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Bruno Dallapiccola

Research Profile

Physiology

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Italy

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Chromosomes, Human, Pair 22

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Benedetto Simone; Liliana Varesco; Antonella Agodi; Stefania Boccia; Domenico Coviello; Francesca Dagna Bricarelli; Bruno Dallapiccola; Emilio Di Maria; Antonio Federici; Maurizio Genuardi; Maria Rosaria Gualano; Walter Mazzucco; Walter Ricciardi
The policy of public health genomics in Italy.
M Cristina Digilio; Rosangela Ferese; M Grazia Giuffrida; Francesca Lepri; Bruno Marino; Antonio Novelli; Cecilia Surace; Adriano Angioni; Anwar Baban; Laura Bernardini; Federica Consoli; Alessandro De Luca; Bruno Dallapiccola
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
Maria Cecilia D'Asdia; Laura Bernardini; Federica Consoli; Bruno Dallapiccola; Maria Cristina Digilio; Rosangela Ferese; Valentina Guida; Monia Magliozzi; Bruno Marino; Isabella Torrente; Alessandro De Luca
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

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All Publications

2013: Benedetto Simone; Liliana Varesco; Antonella Agodi; Stefania Boccia; Domenico Coviello; Francesca Dagna Bricarelli; Bruno Dallapiccola; Emilio Di Maria; Antonio Federici; Maurizio Genuardi; Maria Rosaria Gualano; Walter Mazzucco; Walter Ricciardi
The policy of public health genomics in Italy.
Health policy (Amsterdam, Netherlands) 2013;110(2-3):214-9.
2013: M Cristina Digilio; Rosangela Ferese; M Grazia Giuffrida; Francesca Lepri; Bruno Marino; Antonio Novelli; Cecilia Surace; Adriano Angioni; Anwar Baban; Laura Bernardini; Federica Consoli; Alessandro De Luca; Bruno Dallapiccola
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
European journal of medical genetics 2013;56(3):144-9.
2013: Maria Cecilia D'Asdia; Laura Bernardini; Federica Consoli; Bruno Dallapiccola; Maria Cristina Digilio; Rosangela Ferese; Valentina Guida; Monia Magliozzi; Bruno Marino; Isabella Torrente; Alessandro De Luca
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
European journal of medical genetics 2013;56(2):80-7.
2013: Valentina Guida; Giuseppe Lamorte; Francesca Lepri; Bruno Marino; Marcella Rocchetti; Anna Sarkozy; Antonio Zaza; Monica Bonetti; Serena Cecchetti; Massimiliano Copetti; Maria Cristina Digilio; Bruno Dallapiccola; Jeroen den Hertog; Rosangela Ferese; Vania Gelmetti; Alessandro De Luca
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
European journal of human genetics : EJHG 2013;21(1):69-75.
2012: Maria Lisa Dentici; Anwar Baban; Mario De Curtis; Maria Cristina Digilio; Rita Mingarelli; Costantino Romagnoli; Luigi Tarani; Giuseppe Zampino; Bruno Dallapiccola
RDDR: a dysmorphology diagnostic network for newborns in central Italy.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25 Suppl 4():121-3.
2012: Federica del Chierico; Maria Elisabetta Guerzoni; Melania Manco; Gian Luigi Marseglia; Maurizio Muraca; Luigi Bonizzi; Rita Carsetti; Anna Maria Castellazzi; Bruno Dallapiccola; Willem de Vos; Paola Roncada; Guglielmo Salvatori; Fabrizio Signore; Andrea Urbani; Pamela Vernocchi; lorenza putignani
Early-life gut microbiota under physiological and pathological conditions: the central role of combined meta-omics-based approaches.
Journal of proteomics 2012;75(15):4580-7.
2012: M Cristina Digilio; Bruno Dallapiccola; B Marino
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.
Pediatric cardiology 2012;33(5):874-5.
2012: Viviana Caputo; Eugenio Carrani; Claudio Carta; Luciano Cianetti; Andrea Ciolfi; Bruno Dallapiccola; Maria Lisa Dentici; Livia Garavelli; Bruce D Gelb; Daniela Melis; Marcello Niceta; Margherita Silengo; Lorenzo Stella; generoso andria; Elga Belligni; Elisa Biamino; Gianfranco Bocchinfuso; Loredana Boccone; Marco Tartaglia
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
American journal of human genetics 2012;90(1):161-9.
2011: V Guida; C Iannascoli; G Maestrale; Bruno Marino; R Mingarelli; M Uda; G Usala; E Bellacchio; Francesca Chiappe; A De Luca; M C Digilio; R Ferese; Bruno Dallapiccola
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Clinical genetics 2011;80(6):591-4.
2011: Paolo Prontera; Daniela Rogaia; Rita Romani; Gabriela Stangoni; Carmela Ardisia; Laura Bernardini; Anna Capalbo; Bruno Dallapiccola; Emilio Donti
Deletion 2p15-16.1 syndrome: case report and review.
American journal of medical genetics. Part A 2011;155A(10):2473-8.
2011: Maria Cristina Digilio; Maria Grazia Giuffrida; Valentina Guida; Francesca Lepri; Bruno Marino; Antonio Novelli; Barbara Torres; Paolo Versacci; Anwar Baban; Laura Bernardini; Rossella Capolino; Alessandro De Luca; Bruno Dallapiccola
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
American journal of medical genetics. Part A 2011;155A(9):2196-202.
2011: Asli Sirmaci; Michail Spiliopoulos; Juan I. Young; Stephan Zuchner; Alex Abrams; Emanuele Agolini; Guney Bademci; S Blanton; Francesco Brancati; Bruno Dallapiccola; Maria Christina Digilio; Duygu Duman; Shengru Guo; Asli Kavaz; Berrin Konuk; Eric Powell; Mustafa Tekin
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
American journal of human genetics 2011;89(2):289-94.
2011: Alessandro De Luca; Andrea de Zorzi; R Ferese; Francesca Lepri; Bruno Marino; A Sarkozy; Pasquale Vergara; Paolo Versacci; M L Dentici; M C Digilio; F Consoli; Bruno Dallapiccola
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
Clinical genetics 2011;80(2):184-90.
2011: Giuseppe Marangi; Federica Martinez; Marina Murdolo; Daniela Orteschi; Chiara Pantaleoni; Rosa Pettinato; Stefania Ricciardi; Corrado Romano; Gigliola Serra; Giovanni Sorge; Irene Toldo; Gessica Vasco; Enrico Alfei; Anna Baroncini; Domenica Battaglia; Chiara Biscione; Paolo Bonanni; Pietro Chiurazzi; Bruno Dallapiccola; Cecilia Daolio; Donatella Greco; Serena Lattante; Rosetta Lecce; Donatella Lettori; Cinzia Magnani; Marcella Zollino
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
American journal of medical genetics. Part A 2011;155A(7):1536-45.
2011: Francesca Lepri; Bruno Marino; Laura Mazzanti; Giovanni Neri; Francesca Pantaleoni; Alba Pilotta; Cesare Rossi; Angelo Selicorni; Margherita Cirillo Silengo; Franco Stanzial; Lorenzo Stella; Giuseppina Baldassarre; Michela Bonaguro; Viviana Caputo; Viviana Cordeddu; Bruno Dallapiccola; Alessandro De Luca; Maria L Dentici; Maria Cristina Digilio; Maria F Faienza; Francesca Faravelli; Giovanni B Ferrero; Orazio Gabrielli; Bruce D Gelb; Ines Kavamura; Isabella Torrrente; Serenella Venanzi; Bradley J Williams; Giuseppe Zampino; Marco Tartaglia
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Human mutation 2011;32(7):760-72.
2011: Anna Modoni; Serena Pagliarani; Elisa Pisaneschi; Gabriella Silvestri; Isabella Torrente; Enza Maria Valente; Bruno Dallapiccola; Adele D'Amico; Maria Lucia Mereu; Luciano Merlini; Mauro Lo Monaco
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2011;28(1):39-44.
2011: Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C W Ng; Wilson Chan; Danny Chan; Stefan Mundlos
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
American journal of human genetics 2011;88(1):70-5.
2010: Daniela Zuccarello; Bruno Dallapiccola; Antonio Novelli; Carlo Foresta
Azoospermia in a man with a constitutional ring 22 chromosome.
European journal of medical genetics 2010;53(6):389-91.
2010: Cristina Gervasini; Francesca Romana Grati; Faustina Lalatta; Silvia Tabano; Barbara Gentilin; Patrizia Colapietro; Simona De Toffol; Giada Frontino; Francesca Motta; Silvia Maitz; Laura Bernardini; Bruno Dallapiccola; Luigi Fedele; Lidia Larizza; Monica Miozzo
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(10):634-40.
2010: Marco Oliverio; Maria Cristina Digilio; Paolo Versacci; Bruno Dallapiccola; Bruno Marino
Shells and heart: are human laterality and chirality of snails controlled by the same maternal genes?
American journal of medical genetics. Part A 2010;152A(10):2419-25.
2010: M Cristina Digilio; Anwar Baban; Bruno Marino; Bruno Dallapiccola
Hypoplastic left heart syndrome in patients with Kabuki syndrome.
Pediatric cardiology 2010;31(7):1111-3.
2010: Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
European journal of human genetics : EJHG 2010;18(10):1133-40.
2010: Francesco Brancati; Paola Fortugno; Irene Bottillo; Marc Lopez; Emmanuelle Josselin; Omar Boudghene-Stambouli; Emanuele Agolini; Laura Bernardini; Emanuele Bellacchio; Miriam Iannicelli; Alfredo Rossi; Amina Dib-Lachachi; Liborio Stuppia; Giandomenico Palka; Stefan Mundlos; Sigmar Stricker; Uwe Kornak; Giovanna Zambruno; Bruno Dallapiccola
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
American journal of human genetics 2010;87(2):265-73.
2010: Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria Cristina Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
American journal of human genetics 2010;87(2):250-7.
2010: Francesca Clementina Radio; Laura Bernardini; Sara Loddo; Irene Bottillo; Antonio Novelli; Rita Mingarelli; Bruno Dallapiccola
TBX2 gene duplication associated with complex heart defect and skeletal malformations.
American journal of medical genetics. Part A 2010;152A(8):2061-6.
2010: Irene Bottillo; Isabella Torrente; Valentina Lanari; Valentina Pinna; Sandra Giustini; Luigina Divona; Alessandro De Luca; Bruno Dallapiccola
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.
American journal of medical genetics. Part A 2010;152A(6):1467-73.
2010: S Michiorri; V Gelmetti; E Giarda; F Lombardi; F Romano; Roberta Marongiu; S Nerini-Molteni; sale Patrizio; R Vago; G Arena; L Torosantucci; L Cassina; M A Russo; Bruno Dallapiccola; Enza Maria Valente; G Casari
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy.
Cell death and differentiation 2010;17(6):962-74.
2010: Uwe Kornak; Francesco Brancati; Martine Le Merrer; Klaske Lichtenbelt; Wolfgang Ernst Hoehne; Sigrid Tinschert; Francesco Giuseppe Garaci; Bruno Dallapiccola; Peter Nürnberg
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
American journal of medical genetics. Part A 2010;152A(4):870-4.
2010: L Sinibaldi; G Harifi; Irene Bottillo; M Iannicelli; S El Hassani; F Brancati; Bruno Dallapiccola
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
Clinical and experimental rheumatology 2010;28(2):153-7.
2010: Lothar Gremer; Alessandro De Luca; Torsten Merbitz-Zahradnik; Bruno Dallapiccola; Susanne Morlot; Marco Tartaglia; Kerstin Kutsche; Mohammad Reza Ahmadian; Georg Rosenberger
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Human molecular genetics 2010;19(5):790-802.
2010: Carrie M Louie; Gianluca Caridi; Vanda S Lopes; Francesco Brancati; Andreas Kispert; Madeline A Lancaster; Andrew M Schlossman; Edgar Otto; Michael Leitges; Hermann-Josef Gröne; Irma Lopez; Harini V Gudiseva; John F O'Toole; Elena Vallespin; Radha Ayyagari; Carmen Ayuso; Frans P M Cremers; Anneke I den Hollander; Robert K Koenekoop; Bruno Dallapiccola; Gian Marco Ghiggeri; Friedhelm Hildebrandt; Enza Maria Valente; David S Williams; Joseph G Gleeson
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Nature genetics 2010;42(2):175-80.
2010: Bruno Dallapiccola; Isabella Torrente; Emanuele Agolini; Arnaldo Morena; Rita Mingarelli
A nationwide genetic testing survey in Italy, year 2007.
Genetic testing and molecular biomarkers 2010;14(1):17-22.
2010: Laura Bernardini; Viola Alesi; Sara Loddo; Antonio Novelli; Irene Bottillo; Agatino Battaglia; Maria Cristina Digilio; Giuseppe Zampino; Adam Ertel; Paolo Fortina; Saul Surrey; Bruno Dallapiccola
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
European journal of human genetics : EJHG 2010;18(2):178-85.
2010: Valentina Guida; Francesca Lepri; Raymon Vijzelaar; Andrea De Zorzi; Paolo Versacci; Maria Cristina Digilio; Bruno Marino; Alessandro De Luca; Bruno Dallapiccola
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
Disease markers 2010;28(5):287-92.
2010: Alberto Pilotto; Filomena Addante; Marilisa Franceschi; Gioacchino Leandro; Giuseppe Rengo; Piero D'Ambrosio; Maria Grazia Longo; Franco Rengo; Fabio Pellegrini; Bruno Dallapiccola; Luigi Ferrucci
Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure.
Circulation. Heart failure 2010;3(1):14-20.
2009: Monica Bonetti; Chiara Barzaghi; Francesco Brancati; Alessandro Ferraris; Emanuele Bellacchio; Alessandro Giovanetti; Tamara Ialongo; Giovanna Zorzi; Carla Piano; Martina Petracca; Alberto Albanese; Nardo Nardocci; Bruno Dallapiccola; Anna Rita Bentivoglio; Barbara Garavaglia; Enza Maria Valente
Mutation screening of the DYT6/THAP1 gene in Italy.
Movement disorders : official journal of the Movement Disorder Society 2009;24(16):2424-7.
2009: Alessandro Ferraris; Tamara Ialongo; Giulio Cesare Passali; Maria Teresa Pellecchia; Livia Brusa; Marianna Laruffa; Arianna Guidubaldi; Gaetano Paludetti; Alberto Albanese; Paolo Barone; Bruno Dallapiccola; Enza Maria Valente; Anna Rita Bentivoglio
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
Movement disorders : official journal of the Movement Disorder Society 2009;24(16):2350-7.
2009: Bruno Dallapiccola; Laura Bernardini; Antonio Novelli; Rita Mingarelli
Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.
American journal of medical genetics. Part A 2009;149A(12):2867-70.
2009: M Cristina Digilio; Donna M McDonald-McGinn; Carrie Heike; Charles Catania; Bruno Dallapiccola; Bruno Marino; Elaine H Zackai
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
American journal of medical genetics. Part A 2009;149A(12):2860-4.
2009: Renato Borgatti; Susan Marelli; Laura Bernardini; Antonio Novelli; Anna Cavallini; Alessandra Tonelli; Maria Teresa Bassi; Bruno Dallapiccola
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.
Clinical genetics 2009;76(6):573-6.
2009: Maria Lisa Dentici; Francesco Brancati; Rita Mingarelli; Bruno Dallapiccola
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.
European journal of medical genetics 2009;52(6):421-5.
2009: Mohammad Hoque; Maria Prencipe; Maria Luana Poeta; Raffaela Barbano; Vanna Maria Valori; Massimiliano Copetti; Antonietta Pia Gallo; Mariana Brait; Evaristo Maiello; Adolfo Apicella; Raffaele Rossiello; Francesco Zito; Tommasi Stefania; angelo paradiso; Massimo Carella; Bruno Dallapiccola; Roberto Murgo; Illuminato Carosi; Michele Bisceglia; Vito Michele Fazio; David Sidransky; Paola Parrella
Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009;18(10):2694-700.
2009: Carmelo Damiano Salpietro; Silvana Briuglia; Maria Concetta Cutrupi; Romina Gallizzi; Luciana Rigoli; Bruno Dallapiccola
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.
American journal of medical genetics. Part A 2009;149A(10):2270-3.
2009: Sofia Douzgou; Rita Mingarelli; Bruno Dallapiccola
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.
Clinical dysmorphology 2009;18(4):205-8.
2009: Monica Bonetti; Alessandro Ferraris; Martina Petracca; Anna Rita Bentivoglio; Bruno Dallapiccola; Enza Maria Valente
GIGYF2 variants are not associated with Parkinson's disease in Italy.
Movement disorders : official journal of the Movement Disorder Society 2009;24(12):1867-8; author reply 1868-9.
2009: Alberto Pilotto; M Franceschi; G D'Onofrio; A Bizzarro; F Mangialasche; L Cascavilla; F Paris; M G Matera; Andrea Pilotto; A Daniele; P Mecocci; C Masullo; Bruno Dallapiccola; Davide Seripa
Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease.
Neurology 2009;73(10):761-7.
2009: Luciana Chessa; Maria Piane; Monia Magliozzi; Isabella Torrente; Camilla Savio; Patrizia Lulli; Alessandro De Luca; Bruno Dallapiccola
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Annals of human genetics 2009;73(Pt 5):532-9.
2009: Stephanie L Bielas; Jennifer L Silhavy; Francesco Brancati; Marina V Kisseleva; Lihadh Al-Gazali; Laszlo Sztriha; Riad A Bayoumi; Maha S Zaki; Alice Abdel-Aleem; Rasim Ozgur Rosti; Hulya Kayserili; Dominika Swistun; Lesley C Scott; Enrico Bertini; Eugen Boltshauser; Elisa Fazzi; Lorena Travaglini; Seth J Field; Stephanie Gayral; Monique Jacoby; Stephane Schurmans; Bruno Dallapiccola; Philip W Majerus; Enza Maria Valente; Joseph G Gleeson
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nature genetics 2009;41(9):1032-6.
2009: Maria Cristina Digilio; Laura Bernardini; Anna Capalbo; Rossella Capolino; Maria Giulia Gagliardi; Bruno Marino; Antonio Novelli; Bruno Dallapiccola
16p subtelomeric duplication: a clinically recognizable syndrome.
European journal of human genetics : EJHG 2009;17(9):1135-40.
2009: Alberto Pilotto; Maria G Matera; Luigi Ferrucci; Daniele Sancarlo; Gioacchino Leandro; Grazia D'Onofrio; Davide Seripa; Filomena Addante; Marilisa Franceschi; Bruno Dallapiccola
Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients.
Rejuvenation research 2009;12(4):239-47.
2009: Maria Cristina Digilio; Laura Bernardini; Rita Mingarelli; Rossella Capolino; Anna Capalbo; Maria Grazia Giuffrida; Paolo Versacci; Antonio Novelli; Bruno Dallapiccola
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.
American journal of medical genetics. Part A 2009;149A(8):1777-81.
2009: Alberto Pilotto; Filomena Addante; Luigi Ferrucci; Gioacchino Leandro; Grazia D'Onofrio; Michele Corritore; Valeria Niro; Carlo Scarcelli; Bruno Dallapiccola; Marilisa Franceschi
The multidimensional prognostic index predicts short- and long-term mortality in hospitalized geriatric patients with pneumonia.
The journals of gerontology. Series A, Biological sciences and medical sciences 2009;64(8):880-7.
2009: L Bernardini; L Sinibaldi; A Capalbo; I Bottillo; B Mancuso; B Torres; A Novelli; M C Digilio; Bruno Dallapiccola
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
Clinical genetics 2009;76(1):117-9.
2009: Giorgia Esposito; Giorgia Grutter; Fabrizio Drago; Mauro W Costa; Antonella De Santis; Giovanna Bosco; Bruno Marino; Emanuele Bellacchio; Francesca Lepri; Richard P Harvey; Anna Sarkozy; Bruno Dallapiccola
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
American journal of medical genetics. Part A 2009;149A(7):1574-7.
2009: Davide Seripa; Francesco Panza; Marilisa Franceschi; Grazia D'Onofrio; Vincenzo Solfrizzi; Bruno Dallapiccola; Alberto Pilotto
Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease.
Ageing research reviews 2009;8(3):214-36.
2009: Bruno Dallapiccola; Maria Cristina Digilio; Adriana Zatterale; Rita Galeone; Rossella Capolino; Rita Mingarelli
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.
Clinical dysmorphology 2009;18(3):135-8.
2009: Maria Lisa Dentici; Anna Sarkozy; Francesca Pantaleoni; Claudio Carta; Francesca Lepri; Rosangela Ferese; Viviana Cordeddu; Simone Martinelli; Silvana Briuglia; Maria Cristina Digilio; Giuseppe Zampino; Marco Tartaglia; Bruno Dallapiccola
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
European journal of human genetics : EJHG 2009;17(6):733-40.
2009: Anna Sarkozy; Claudio Carta; Sonia Moretti; Giuseppe Zampino; Maria C Digilio; Francesca Pantaleoni; Anna Paola Scioletti; Giorgia Esposito; Viviana Cordeddu; Francesca Lepri; Valentina Petrangeli; Maria L Dentici; Grazia M S Mancini; Angelo Selicorni; Cesare Rossi; Laura Mazzanti; Bruno Marino; Giovanni B Ferrero; Margherita Cirillo Silengo; Luigi Memo; Franco Stanzial; Francesca Faravelli; Liborio Stuppia; Efisio Puxeddu; Bruce D Gelb; Bruno Dallapiccola; Marco Tartaglia
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Human mutation 2009;30(4):695-702.
2009: Irene Bottillo; Terje Ahlquist; Helge Brekke; Stine A Danielsen; Eva van den Berg; Fredrik Mertens; Ragnhild A Lothe; Bruno Dallapiccola
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.
The Journal of pathology 2009;217(5):693-701.
2009: Bruno Dallapiccola; Laura Bernardini; Antonio Novelli; Rita Mingarelli
Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.
American journal of medical genetics. Part A 2009;149A(3):546-8.
2009: Roberta Marongiu; Brian Spencer; Leslie Crews; Anthony Adame; Christina Patrick; Margarita Trejo; Bruno Dallapiccola; Enza Maria Valente; Eliezer Masliah
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux.
Journal of neurochemistry 2009;108(6):1561-74.
2009: Paolo Prontera; Laura Bernardini; Gabriela Stangoni; Anna Capalbo; Daniela Rogaia; Carmela Ardisia; Antonio Novelli; Bruno Dallapiccola; Emilio Donti
2q31.2q32.3 deletion syndrome: report of an adult patient.
American journal of medical genetics. Part A 2009;149A(4):706-12.
2009: Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Annalisa Mazzotta; Enrico Bertini; Eugen Boltshauser; Stefano D'Arrigo; francesco emma; Elisa Fazzi; Romina Gallizzi; Mattia Gentile; Damir Loncarevic; Vlatka Mejaski-Bosnjak; Chiara Pantaleoni; Luciana Rigoli; Carmelo Damiano Salpietro; Sabrina Signorini; Gilda Rita Stringini; Alain Verloes; Dominika Zabloka; Bruno Dallapiccola; Joseph G Gleeson; Enza Maria Valente
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Human mutation 2009;30(2):E432-42.
2009: Alessandro Bertolino; Leonardo Fazio; Annabella Di Giorgio; Giuseppe Blasi; Raffaella Romano; Paolo Taurisano; Grazia Caforio; Lorenzo Sinibaldi; Gianluca Ursini; teresa popolizio; Emanuele Tirotta; Audrey Papp; Bruno Dallapiccola; Emiliana Borrelli; Wolfgang Sadee
Genetically determined interaction between the dopamine transporter and the D2 receptor on prefronto-striatal activity and volume in humans.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(4):1224-34.
2009: Laura Bernardini; stefania gimelli; Cristina Gervasini; Massimo Carella; Anwar Baban; Giada Frontino; Giancarlo Barbano; Maria Teresa Divizia; Luigi Fedele; Antonio Novelli; Frédérique Béna; Faustina Lalatta; Monica Miozzo; Bruno Dallapiccola
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.
Orphanet journal of rare diseases 2009;4():25.
2009: Andrea Masotti; Viviana Caputo; Letizia Da Sacco; Antonio Pizzuti; Bruno Dallapiccola; Gian Franco Bottazzo
Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.
Journal of biomedicine & biotechnology 2009;2009():659028.
2009: Alberto Pilotto; Daniele Sancarlo; Francesco Panza; Francesco Paris; Grazia D'Onofrio; Leandro Cascavilla; Filomena Addante; Davide Seripa; Vincenzo Solfrizzi; Bruno Dallapiccola; Marilisa Franceschi; Luigi Ferrucci
The Multidimensional Prognostic Index (MPI), based on a comprehensive geriatric assessment predicts short- and long-term mortality in hospitalized older patients with dementia.
Journal of Alzheimer's disease : JAD 2009;18(1):191-9.
2009: Paola Parrella; Antonella la Torre; Massimiliano Copetti; Vanna M Valori; Raffaela Barbano; Angelo Notarangelo; Michele Bisceglia; Antonietta Pia Gallo; Teresa Balsamo; Maria Luana Poeta; Massimo Carella; Domenico Catapano; Salvatore Parisi; Bruno Dallapiccola; Evaristo Maiello; Vincenzo D'Angelo; Vito Michele Fazio
High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas.
Journal of biomedicine & biotechnology 2009;2009():531692.
2009: Sabrina Prudente; Daniela Scarpelli; Manisha Chandalia; yuan-yuan zhang; Eleonora Morini; Silvia Del Guerra; Francesco Perticone; Rong Li; Christine Powers; Francesco Andreozzi; Piero Marchetti; Bruno Dallapiccola; Nicola Abate; Alessandro Doria; Giorgio Sesti; Vincenzo Trischitta
The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes.
The Journal of clinical endocrinology and metabolism 2009;94(1):190-6.
2008: Enza Maria Valente; Alessandro Ferraris; Bruno Dallapiccola
Genetic testing for paediatric neurological disorders.
Lancet neurology 2008;7(12):1113-26.
2008: Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R Wilcox; Dietmar Müller; Paige B Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nature genetics 2008;40(12):1410-2.
2008: Angelo Carbone; Laura Bernardini; Francesco Valenzano; Irene Bottillo; Clara De Simone; Rodolfo Capizzi; Anna Capalbo; Francesca Romano; Antonio Novelli; Bruno Dallapiccola; Pierluigi Amerio
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.
Genes, chromosomes & cancer 2008;47(12):1067-75.
2008: Giuseppe Limongelli; Giuseppe Pacileo; Maria Cristina Digilio; Paolo Calabro'; Giovanni Di Salvo; Alessandra Rea; Tiziana Miele; Alessandro Frigiola; Anna Sarkozy; Bruno Dallapiccola; Bruno Marino; Raffaele Calabro'
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.
International journal of cardiology 2008;130(3):e108-10.
2008: Elisabetta Mascheroni; Maria Cristina Digilio; Elisabetta Cortis; Rita Devito; Anna Sarkozy; Rossella Capolino; Bruno Dallapiccola; Alberto G Ugazio
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.
American journal of medical genetics. Part A 2008;146A(22):2966-7.
2008: Maria Cristina Digilio; Bruno Marino; Bruno Dallapiccola
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.
American journal of medical genetics. Part A 2008;146A(21):2842-4.
2008: Heather L Wilson; John A Crolla; Dena Walker; Lina Artifoni; Bruno Dallapiccola; Takako Takano; Pradeep Vasudevan; Shuwen Huang; Vivienne Maloney; Twila Yobb; Oliver Quarrell; Heather E McDermid
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
European journal of human genetics : EJHG 2008;16(11):1301-10.
2008: Fabrizio Bossa; Anna Latiano; Luigia Rossi; Mauro Magnani; Orazio Palmieri; Bruno Dallapiccola; Sonja Serafini; Gianluca Damonte; Ermelinda De Santo; Angelo Andriulli; Vito Annese
Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study.
The American journal of gastroenterology 2008;103(10):2509-16.
2008: Sofia Douzgou; Katarina Lehmann; Rita Mingarelli; Stefan Mundlos; Bruno Dallapiccola
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
American journal of medical genetics. Part A 2008;146A(16):2116-21.
2008: F Brancati; L Travaglini; D Zablocka; Eugen Boltshauser; P Accorsi; G Montagna; J L Silhavy; Giuseppe Barrano; Enrico Bertini; francesco emma; L Rigoli; Bruno Dallapiccola; Joseph G Gleeson; Enza Maria Valente
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Clinical genetics 2008;74(2):164-70.
2008: Alessandro Bertolino; Annabella Di Giorgio; Giuseppe Blasi; Fabio Sambataro; Grazia Caforio; Lorenzo Sinibaldi; Valeria Latorre; Antonio Rampino; Paolo Taurisano; Leonardo Fazio; Raffaella Romano; Sofia Douzgou; teresa popolizio; Bhaskar S Kolachana; Marcello Nardini; Daniel R Weinberger; Bruno Dallapiccola
Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks.
Biological psychiatry 2008;64(3):226-34.
2008: Maria Cristina Digilio; Flaminia Calzolari; Rossella Capolino; Alessandra Toscano; Anna Sarkozy; Andrea de Zorzi; Bruno Dallapiccola; Bruno Marino
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
American journal of medical genetics. Part A 2008;146A(14):1815-9.
2008: Terje Ahlquist; Irene Bottillo; Stine A Danielsen; Gunn Iren Meling; Torleiv O Rognum; Guro E Lind; Bruno Dallapiccola; Ragnhild A Lothe
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A.
Neoplasia (New York, N.Y.) 2008;10(7):680-6, 2 p following 686.
2008: Maria Francesca Bedeschi; Antonio Novelli; Laura Bernardini; Cecilia Parazzini; Vera Bianchi; Barbara Torres; Federica Natacci; Maria Grazia Giuffrida; Paola Ficarazzi; Bruno Dallapiccola; Faustina Lalatta
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
American journal of medical genetics. Part A 2008;146A(13):1718-24.
2008: Francesco Brancati; Francesco Giuseppe Garaci; Rita Mingarelli; Bruno Dallapiccola
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome.
American journal of medical genetics. Part A 2008;146A(12):1622-3.
2008: Eleonora Morini; Vittorio Tassi; Daria Capponi; Ornella Ludovico; Bruno Dallapiccola; Vincenzo Trischitta; Sabrina Prudente
Interaction between PPARgamma2 variants and gender on the modulation of body weight.
Obesity (Silver Spring, Md.) 2008;16(6):1467-70.
2008: Maria Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Costello syndrome: clinical diagnosis in the first year of life.
European journal of pediatrics 2008;167(6):621-8.
2008: Vania Gelmetti; Alessandro Ferraris; Livia Brusa; Francesca Romano; Federica Lombardi; Chiara Barzaghi; Paolo Stanzione; Barbara Garavaglia; Bruno Dallapiccola; Enza Maria Valente
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study.
Movement disorders : official journal of the Movement Disorder Society 2008;23(6):881-5.
2008: Giuseppe Limongelli; Bruno Marino; Carmela Morelli; Giuseppe Pacileo; Dario Paladini; Maria Giovanna Russo; Anna Sarkozy; Paolo Calabrò; Bruno Dallapiccola; Giovanni Di Salvo; Maria Felicetti; Raffaele Calabrò
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.
Journal of prenatal medicine 2008;2(2):24-6.
2008: Roberta Marongiu; Alessandro Ferraris; Tamara Ialongo; Silvia Michiorri; Francesco Soleti; Francesca Ferrari; Antonio E Elia; Daniele Ghezzi; Alberto Albanese; Maria Concetta Altavista; Angelo Antonini; Paolo Barone; Livia Brusa; Pietro Cortelli; Paolo Martinelli; Maria Teresa Pellecchia; Gianni Pezzoli; Cesa Scaglione; Paolo Stanzione; Michele Tinazzi; Anna Zecchinelli; Massimo Zeviani; Emanuele Cassetta; Barbara Garavaglia; Bruno Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Human mutation 2008;29(4):565.
2008: Giuseppe Limongelli; Anna Sarkozy; Giuseppe Pacileo; Paolo Calabrò; Maria Cristina Digilio; Valeria Maddaloni; Giulia Gagliardi; Giovanni Di Salvo; Maria Iacomino; Bruno Marino; Bruno Dallapiccola; Raffaele Calabrò
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
American journal of medical genetics. Part A 2008;146A(5):620-8.
2008: Massimo Torlontano; Cosimo Durante; Isabella Torrente; Umberto Crocetti; Giovanni Augello; Giuseppe Ronga; Teresa Montesano; Laura Travascio; Antonella Verrienti; Rocco Bruno; Stefano Santini; Palmina D'Arcangelo; Bruno Dallapiccola; Sebastiano Filetti; Vincenzo Trischitta
Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients.
The Journal of clinical endocrinology and metabolism 2008;93(3):910-3.
2008: Anita Rauch; Christian T Thiel; Detlev Schindler; U Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; koenraad devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
2008: Agatino Battaglia; H Eugene Hoyme; Bruno Dallapiccola; Elaine Zackai; Louanne Hudgins; Donna McDonald-McGinn; Nadia Bahi-Buisson; Corrado Romano; Charles A Williams; Lisa L Brailey; Lisa L Braley; Sameer M Zuberi; John C Carey
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Pediatrics 2008;121(2):404-10.
2008: Alberto Pilotto; Luigi Ferrucci; Marilisa Franceschi; Luigi P D'Ambrosio; Carlo Scarcelli; Leandro Cascavilla; Francesco Paris; Giuliana Placentino; Davide Seripa; Bruno Dallapiccola; Gioacchino Leandro
Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients.
Rejuvenation research 2008;11(1):151-61.
2008: M Cristina Digilio; Bruno Marino; Bruno Dallapiccola
Deletion 22q11 and isolated congenital heart disease.
International journal of cardiology 2008;123(3):364-5.
2008: Laura Bernardini; Chiara Palka; Caterina Ceccarini; Anna Capalbo; Irene Bottillo; Rita Mingarelli; Antonio Novelli; Bruno Dallapiccola
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
American journal of medical genetics. Part A 2008;146A(2):238-44.
2008: Maria Cristina Digilio; Rossella Capolino; Bruno Dallapiccola
Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba.
American journal of medical genetics. Part A 2008;146A(2):254-6.
2008: Anna Rita Ciccaglione; Cinzia Marcantonio; Elena Tritarelli; Paola Tataseo; Alessandro Ferraris; Roberto Bruni; Bruno Dallapiccola; Germano Gerosolimo; Angela Costantino; Maria Rapicetta
Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones.
BMC genomics 2008;9():309.
2008: Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Leopard syndrome.
Orphanet journal of rare diseases 2008;3():13.
2008: Davide Seripa; Maria Giovanna Matera; Marilisa Franceschi; Alessandra Bizzarro; Francesco Paris; Leandro Cascavilla; Monica Rinaldi; Francesco Panza; Vincenzo Solfrizzi; antonio daniele; Carlo Masullo; Bruno Dallapiccola; Alberto Pilotto
Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease.
Dementia and geriatric cognitive disorders 2008;25(3):287-92.
2008: Enza Maria Valente; Francesco Brancati; Bruno Dallapiccola
Genotypes and phenotypes of Joubert syndrome and related disorders.
European journal of medical genetics 2008;51(1):1-23.
2007: Laura Bernardini; Marco Castori; Anna Capalbo; Vahe Mokini; Rita Mingarelli; Paolo Simi; Alice Bertuccelli; Antonio Novelli; Bruno Dallapiccola
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
American journal of medical genetics. Part A 2007;143A(24):2937-43.
2007: Mirella Fiorito; Isabella Torrente; Salvatore De Cosmo; Valentina Guida; Alessia Colosimo; Sabrina Prudente; Elisabetta Flex; Rossella Menghini; Roberto Miccoli; Giuseppe Penno; Fabio Pellegrini; Vittorio Tassi; Massimo Federici; Vincenzo Trischitta; Bruno Dallapiccola
Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.
Obesity (Silver Spring, Md.) 2007;15(12):2889-95.
2007: Alessandro De Luca; Irene Bottillo; M C Dasdia; A Morella; V Lanari; Laura Bernardini; Luigina Divona; Sandra Giustini; Lorenzo Sinibaldi; Antonio Novelli; Isabella Torrente; Annalisa Schirinzi; Bruno Dallapiccola
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
Journal of medical genetics 2007;44(12):800-8.
2007: Oronzo Scarciolla; Francesco Brancati; Enza Maria Valente; Alessandro Ferraris; Maria Vittoria De Angelis; Stefano Valbonesi; Barbara Garavaglia; Antonino Uncini; Giandomenico Palka; Liborio Stuppia; Bruno Dallapiccola
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
Movement disorders : official journal of the Movement Disorder Society 2007;22(15):2274-8.
2007: Salvatore De Cosmo; Sabrina Prudente; Francesco Andreozzi; Eleonora Morini; Anna Rauseo; Daniela Scarpelli; yuan-yuan zhang; Rui Xu; Francesco Perticone; Bruno Dallapiccola; Giorgio Sesti; Alessandro Doria; Vincenzo Trischitta
Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2007;50(4):688-9.
2007: Marina Scintu; Rita Vitale; Maria Prencipe; Antonietta Pia Gallo; Loriana Bonghi; Vanna Maria Valori; Evaristo Maiello; Monica Rinaldi; Emanuela Signori; Carla Rabitti; Massimo Carella; Bruno Dallapiccola; Vittorio Altomare; Vito Michele Fazio; Paola Parrella
Genomic instability and increased expression of BUB1B and MAD2L1 genes in ductal breast carcinoma.
Cancer letters 2007;254(2):298-307.
2007: Marco Castori; Chiara Palka; Francesco Brancati; Rita Mingarelli; Bruno Dallapiccola
Reticulate vascular lesions and a large head.
Pediatric dermatology 2007;24(5):555-6.
2007: Alessandro Bertolino; Grazia Caforio; Giuseppe Blasi; Antonio Rampino; Marcello Nardini; Daniel R Weinberger; Bruno Dallapiccola; Lorenzo Sinibaldi; Sophia Douzgou
COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia.
Schizophrenia research 2007;95(1-3):253-5.
2007: Giuseppe Limongelli; Giuseppe Pacileo; Bruno Marino; Maria Cristina Digilio; Anna Sarkozy; Perry Elliott; Paolo Versacci; Paolo Calabro; Andrea de Zorzi; Giovanni Di Salvo; Petros Syrris; Michael Patton; William J McKenna; Bruno Dallapiccola; Raffaele Calabro
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
The American journal of cardiology 2007;100(4):736-41.
2007: Alberto Pilotto; Davide Seripa; Marilisa Franceschi; Carlo Scarcelli; Donatella Colaizzo; Elvira Grandone; Valeria Niro; Angelo Andriulli; Gioacchino Leandro; Francesco Di Mario; Bruno Dallapiccola
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms.
Gastroenterology 2007;133(2):465-71.
2007: Paola Prandini; Samuel Deutsch; Robert Lyle; Maryline Gagnebin; Celine Delucinge Vivier; Mauro Delorenzi; Corinne Gehrig; Patrick Descombes; Stephanie L Sherman; Franca Dagna Bricarelli; Chiara Baldo; Antonio Novelli; Bruno Dallapiccola; Stylianos E Antonarakis
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
American journal of human genetics 2007;81(2):252-63.
2007: Bhaswati Pandit; Anna Sarkozy; Len A Pennacchio; Claudio Carta; Kimihiko Oishi; Simone Martinelli; Edgar A Pogna; Wendy Schackwitz; Anna Ustaszewska; Andrew P Landstrom; J Martijn Bos; Steve R Ommen; Giorgia Esposito; Francesca Lepri; Faul Christian; Peter Mundel; Juan Pedro López-Siguero; Romano Tenconi; Angelo Selicorni; cesare rossi; Laura Mazzanti; Isabella Torrente; Bruno Marino; Maria Cristina Digilio; Giuseppe Zampino; Michael J Ackerman; Bruno Dallapiccola; Marco Tartaglia; Bruce D Gelb
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nature genetics 2007;39(8):1007-12.
2007: Marco Castori; Evelina Silvestri; Josè Nunnari; Paola Grammatico; Bruno Dallapiccola
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma.
American journal of medical genetics. Part A 2007;143A(12):1391-3.
2007: Anna Sarkozy; Annalisa Schirinzi; Francesca Lepri; Irene Bottillo; Alessandro De Luca; Antonio Pizzuti; Marco Tartaglia; Maria Cristina Digilio; Bruno Dallapiccola
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
American journal of medical genetics. Part A 2007;143A(9):1009-11.
2007: Sabrina Prudente; Elisabetta Flex; Eleonora Morini; Federica Turchi; Daria Capponi; Salvatore De Cosmo; Vittorio Tassi; Valentina Guida; Angelo Avogaro; Franco Folli; Francesca Maiani; Lucia Frittitta; Bruno Dallapiccola; Vincenzo Trischitta
A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities.
Diabetes 2007;56(5):1468-74.
2007: Emanuela Signori; Emanuela Massi; Maria Giovanna Matera; Monica Poscente; Carolina Gravina; Gianluca Falcone; Michele Attilio Rosa; Monica Rinaldi; Wim Wuyts; Davide Seripa; Bruno Dallapiccola; Vito Michele Fazio
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
Genes, chromosomes & cancer 2007;46(5):470-7.
2007: Laura Bernardini; Anna Capalbo; Maria Gabriella D'Avanzo; Isabella Torrente; Paola Grammatico; Domenico Dell'Edera; Denise Pontes Cavalcanti; Antonio Novelli; Bruno Dallapiccola
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
European journal of medical genetics 2007;50(2):94-102.
2007: Giuseppe Zampino; Francesca Pantaleoni; Claudio Carta; Gilda Cobellis; Isabella Vasta; Cinzia Neri; Edgar A Pogna; Emma De Feo; Angelica Delogu; Anna Sarkozy; Francesca Atzeri; Angelo Selicorni; Katherine A Rauen; Cheryl S Cytrynbaum; Rosanna Weksberg; Bruno Dallapiccola; Andrea Ballabio; Bruce D Gelb; Giovanni Neri; Marco Tartaglia
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Human mutation 2007;28(3):265-72.
2007: Caterina Ceccarini; Lorenzo Sinibaldi; Laura Bernardini; Roberto De Simone; Rita Mingarelli; Antonio Novelli; Bruno Dallapiccola
Duplication 18q21.31-q22.2.
American journal of medical genetics. Part A 2007;143(4):343-8.
2007: Marco Castori; Sofia Douzgou; Evelina Silvestri; Férechté Encha-Razavi; Bruno Dallapiccola
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.
American journal of medical genetics. Part A 2007;143(3):277-84.
2007: Giulio Calcagni; Maria Cristina Digilio; Anna Sarkozy; Bruno Dallapiccola; Bruno Marino
Familial recurrence of congenital heart disease: an overview and review of the literature.
European journal of pediatrics 2007;166(2):111-6.
2007: Marco Castori; Francesco Brancati; Rita Mingarelli; Stefan Mundlos; Bruno Dallapiccola
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
American journal of medical genetics. Part A 2007;143(2):195-9.
2007: Jordi Clarimon; Francesco Brancati; Elizabeth Peckham; Enza Maria Valente; Bruno Dallapiccola; Giovanni Abruzzese; Paolo Girlanda; Giovanni Defazio; Alfredo Berardelli; Mark Hallett; Andrew Singleton
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
Movement disorders : official journal of the Movement Disorder Society 2007;22(2):162-6.
2007: Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Journal of human genetics 2007;52(12):1011-7.
2007: Giuseppe Orsitto; Davide Seripa; Francesco Panza; Marilisa Franceschi; Leandro Cascavilla; Giuliana Placentino; Maria Giovanna Matera; Francesco Paris; Cristiano Capurso; Vincenzo Solfrizzi; Bruno Dallapiccola; Alberto Pilotto
Apolipoprotein E genotypes in hospitalized elderly patients with vascular dementia.
Dementia and geriatric cognitive disorders 2007;23(5):327-33.
2007: Irene Bottillo; Alessandro De Luca; Annalisa Schirinzi; Valentina Guida; Isabella Torrente; Stefano Calvieri; Cristina Gervasini; Lidia Larizza; Antonio Pizzuti; Bruno Dallapiccola
Functional analysis of splicing mutations in exon 7 of NF1 gene.
BMC medical genetics 2007;8():4.
2007: Gerardo Piacentini; Maria Cristina Digilio; Anna Sarkozy; Silvia Placidi; Bruno Dallapiccola; Bruno Marino
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.
Journal of cardiovascular medicine (Hagerstown, Md.) 2007;8(1):7-11.
2007: Alessia Colosimo; Valentina Guida; Ivana Antonucci; Tiziana Bonfini; Liborio Stuppia; Bruno Dallapiccola
Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells.
Haematologica 2007;92(1):129-30.
2007: Sabrina Prudente; Manisha Chandalia; Eleonora Morini; Roberto Baratta; Bruno Dallapiccola; Nicola Abate; Lucia Frittitta; Vincenzo Trischitta
The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites.
Obesity (Silver Spring, Md.) 2007;15(1):1-4.
2007: Roberta Marongiu; Francesco Brancati; Angelo Antonini; Tamara Ialongo; Caterina Ceccarini; Oronzo Scarciolla; Anna Capalbo; Riccardo Benti; Gianni Pezzoli; Bruno Dallapiccola; Stefano Goldwurm; Enza Maria Valente
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
Human mutation 2007;28(1):98.
2007: Marco Tartaglia; Len A Pennacchio; Chen Zhao; Kamlesh K Yadav; Valentina Fodale; Anna Sarkozy; Bhaswati Pandit; Kimihiko Oishi; Simone Martinelli; Wendy Schackwitz; Anna Ustaszewska; Joel Martin; James Bristow; Claudio Carta; Francesca Lepri; Cinzia Neri; Isabella Vasta; Kate Gibson; Cynthia J R Curry; Juan Pedro López Siguero; Maria Cristina Digilio; Giuseppe Zampino; Bruno Dallapiccola; Dafna Bar-Sagi; Bruce D Gelb
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nature genetics 2007;39(1):75-9.
2006: Giuseppe Orsitto; Davide Seripa; Francesco Panza; Marilisa Franceschi; Leandro Cascavilla; Giuliana Placentino; Francesco Paris; Vincenzo Solfrizzi; Bruno Dallapiccola; Alberto Pilotto
Apolipoprotein E genotypes in mild cognitive impairment subtypes.
Journal of the American Geriatrics Society 2006;54(12):1965-6.
2006: Oronzo Scarciolla; Liborio Stuppia; Maria Vittoria De Angelis; Stefania Murru; Chiara Palka; Rossella Giuliani; Marta Pace; Antonio Di Muzio; Isabella Torrente; Annunziata Morella; Paola Grammatico; Manlio Giacanelli; Maria Cristina Rosatelli; Antonino Uncini; Bruno Dallapiccola
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
Neurogenetics 2006;7(4):269-76.
2006: Maria Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
European journal of pediatrics 2006;165(11):803-5.
2006: Giulio Calcagni; Maria Cristina Digilio; Rossella Capolino; Bruno Dallapiccola; Bruno Marino
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.
Clinical dysmorphology 2006;15(4):203-6.
2006: Mattia Gambarin; Enza Maria Valente; Paolo Liberini; Giuseppe Barrano; Alberto Bonizzato; Alessandro Padovani; Giuseppe Moretto; Mirta Fiorio; Bruno Dallapiccola; Nicola Smania; Antonio Fiaschi; Michele Tinazzi
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 2006;21(10):1782-4.
2006: Giuseppe Pacileo; Paolo Calabrò; Giuseppe Limongelli; Giuseppe Santoro; MariaCristina Digilio; Anna Sarkozy; Bruno Marino; Bruno Dallapiccola; Raffaele Calabrò
Diffuse coronary dilation in a young patient with LEOPARD syndrome.
International journal of cardiology 2006;112(2):e35-7.
2006: Pasquale Striano; Michela Malacarne; Simona Cavani; Mauro Pierluigi; Rosanna Rinaldi; Maria Luigia Cavaliere; Maria Michela Rinaldi; Carmelilia De Bernardo; Antonino Coppola; Maria Pintaudi; Roberto Gaggero; Paola Grammatico; Salvatore Striano; Bruno Dallapiccola; Federico Zara; Francesca Faravelli
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
American journal of medical genetics. Part A 2006;140(18):1944-9.
2006: Anna Sarkozy; Francesca Lepri; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Bruno Dallapiccola
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
American journal of medical genetics. Part A 2006;140(18):1970-2.
2006: Davide Seripa; Marilisa Franceschi; Maria Giovanna Matera; Francesco Panza; Pat Kehoe; Carolina Gravina; Giuseppe Orsitto; Vincenzo Solfrizzi; Giovanni Di Minno; Bruno Dallapiccola; Alberto Pilotto
Sex differences in the association of apolipoprotein E and angiotensin-converting enzyme gene polymorphisms with healthy aging and longevity: a population-based study from Southern Italy.
The journals of gerontology. Series A, Biological sciences and medical sciences 2006;61(9):918-23.
2006: Valentina Guida; Maria Pia Cappabianca; Alessia Colosimo; Francesca Rafanelli; Antonio Amato; Bruno Dallapiccola
Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects.
Haematologica 2006;91(9):1275-6.
2006: Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(8):536-8.
2006: Bruno Dallapiccola; Isabella Torrente; Arnaldo Morena; Franca Dagna Bricarelli; Rita Mingarelli
Genetic testing in Italy, year 2004.
European journal of human genetics : EJHG 2006;14(8):911-6.
2006: Chiara Criscuolo; Giampiero Volpe; Anna De Rosa; Andrea Varrone; Roberta Marongiu; Pietro Mancini; Elena Salvatore; Bruno Dallapiccola; Alessandro Filla; Enza Maria Valente; Giuseppe De Michele
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2006;21(8):1265-7.
2006: Roberta Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio E Elia; Stefania Cavone; Alberto Albanese; Maria Concetta Altavista; Paolo Barone; Livia Brusa; Pietro Cortelli; Lucia Petrozzi; Cesa Scaglione; Paolo Stanzione; Michele Tinazzi; Massimo Zeviani; Bruno Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente; Barbara Garavaglia
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2006;21(8):1232-5.
2006: Marco Castori; Francesco Brancati; Rosanna Rinaldi; Loredana Adami; Rita Mingarelli; Paola Grammatico; Bruno Dallapiccola
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A 2006;140(14):1573-9.
2006: Claudio Carta; Francesca Pantaleoni; Gianfranco Bocchinfuso; Lorenzo Stella; Isabella Vasta; Anna Sarkozy; Cristina Digilio; Antonio Palleschi; Antonio Pizzuti; Paola Grammatico; Giuseppe Zampino; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
American journal of human genetics 2006;79(1):129-35.
2006: Joseph T C Shieh; Swaroop Aradhya; Antonio Novelli; Melanie A Manning; Athena M Cherry; Janet Brumblay; Carmelo Damiano Salpietro; Laura Bernardini; Bruno Dallapiccola; H Eugene Hoyme
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
American journal of medical genetics. Part A 2006;140(12):1267-73.
2006: Enza Maria Valente; Jennifer L Silhavy; Francesco Brancati; Giuseppe Barrano; Suguna Rani Krishnaswami; Marco Castori; Madeline A Lancaster; Eugen Boltshauser; Loredana Boccone; Lihadh Al-Gazali; Elisa Fazzi; Sabrina Signorini; Carrie M Louie; Emanuele Bellacchio; Enrico Bertini; Bruno Dallapiccola; Joseph G Gleeson
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nature genetics 2006;38(6):623-5.
2006: Alessandro Ferraris; Barbara Torres; Daniela Knafelz; Arrigo Barabino; Paolo Lionetti; Gian Luigi de Angelis; Giuseppe Iacono; Bronislava Papadatou; Giovanna D'Amato; Vincenzo M. Di Ciommo Laurora; Bruno Dallapiccola; Massimo Castro
Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.
Inflammatory bowel diseases 2006;12(5):355-61.
2006: Marco Castori; Francesco Brancati; Alessandro Castriota Scanderbeg; Bruno Dallapiccola
Hypochondrogenesis.
Pediatric radiology 2006;36(5):460-1.
2006: Alessandro Bertolino; Giuseppe Blasi; Valeria Latorre; Valeria Rubino; Antonio Rampino; Lorenzo Sinibaldi; Grazia Caforio; Vittoria Petruzzella; Antonio Pizzuti; Tommaso Scarabino; Marcello Nardini; Daniel R Weinberger; Bruno Dallapiccola
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(15):3918-22.
2006: Hiroshi Nemoto; Genshu Tate; Annalisa Schirinzi; Takao Suzuki; Shoji Sasaya; Yasuo Yoshizawa; Takemasa Midorikawa; Toshiyuki Mitsuya; Bruno Dallapiccola; Yutaka Sanada
Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.
Journal of gastroenterology 2006;41(4):378-82.
2006: Maria Cristina Digilio; Anna Sarkozy; Andrea de Zorzi; Giuseppe Pacileo; Giuseppe Limongelli; Rita Mingarelli; Raffaele Calabrò; Bruno Marino; Bruno Dallapiccola
LEOPARD syndrome: clinical diagnosis in the first year of life.
American journal of medical genetics. Part A 2006;140(7):740-6.
2006: Valentina Guida; Alessia Colosimo; Marco Fichera; Turiddu Lombardo; Luciana Rigoli; Bruno Dallapiccola
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers.
Haematologica 2006;91(3):409-10.
2006: Enza Maria Valente; Francesco Brancati; Jennifer L Silhavy; Marco Castori; Sarah E Marsh; Giuseppe Barrano; Enrico Bertini; Eugen Boltshauser; Maha S Zaki; Alice Abdel-Aleem; Ghada M H Abdel-Salam; Emanuele Bellacchio; Roberta Battini; Robert P Cruse; William B Dobyns; Kalpathy S Krishnamoorthy; Clotilde Lagier-Tourenne; Alex Magee; Ignacio Pascual-Castroviejo; Carmelo Damiano Salpietro; Dean Sarco; Bruno Dallapiccola; Joseph G Gleeson
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of neurology 2006;59(3):527-34.
2006: Angelo Restivo; Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.
Journal of cardiovascular medicine (Hagerstown, Md.) 2006;7(2):77-85.
2006: Anna Latiano; Orazio Palmieri; Rossella M Valvano; Renata D'Incà; Maurizio Vecchi; Alessandro Ferraris; Giacomo Carlo Sturniolo; Luisa Spina; Giovanni Lombardi; Bruno Dallapiccola; Angelo Andriulli; Marcella Devoto; Vito Annese
Contribution of IBD5 locus to clinical features of IBD patients.
The American journal of gastroenterology 2006;101(2):318-25.
2006: Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola
KBG syndrome.
Orphanet journal of rare diseases 2006;1():50.
2006: Monia Magliozzi; Maria Piane; Isabella Torrente; Lorenzo Sinibaldi; Giovanni Rizzo; Camilla Savio; Patrizia Lulli; Alessandro De Luca; Bruno Dallapiccola; Luciana Chessa
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Disease markers 2006;22(4):257-64.
2006: Antonio Amato; Maria Pia Cappabianca; Donatella Ponzini; Paola Di Biagio; Alessia Colosimo; Valentina Guida; Fabrizio Mastropietro; Enrica Foglietta; Paola Grisanti; Silvana Rinaldi; Bruno Dallapiccola; Ida Bianco
Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.
Hemoglobin 2006;30(3):405-7.
2006: Alessandro Ferraris; Giovanna D'Amato; Valerio Nobili; Barbara Torres; Matilde Marcellini; Bruno Dallapiccola
Combined test for UGT1A1 -3279T-->G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients.
Genetic testing 2006;10(2):121-5.
2006: Annalisa Schirinzi; Snezana Drmanac; Bruno Dallapiccola; Steve Huang; Kathryn Scott; Alessandro De Luca; Donald Swanson; Radoje Drmanac; Saul Surrey; Paolo Fortina
Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.
Genetic testing 2006;10(1):8-17.
2006: Vito Annese; Anna Latiano; L Rossi; Fabrizio Bossa; Gianluca Damonte; Bruno Dallapiccola; Sonja Serafini; Francesca Pierigé; Angelo Andriulli; Mauro Magnani
The polymorphism of multi-drug resistance 1 gene (MDR1) does not influence the pharmacokinetics of dexamethasone loaded into autologous erythrocytes of patients with inflammatory bowel disease.
European review for medical and pharmacological sciences 2006;10(1):27-31.
2005: Anna Sarkozy; Giorgia Esposito; Emanuela Conti; Maria Cristina Digilio; Bruno Marino; Raffaele Calabrò; Antonio Pizzuti; Bruno Dallapiccola
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.
American journal of medical genetics. Part A 2005;139(3):236-8.
2005: Francesco Brancati; Marco Castori; Rita Mingarelli; Bruno Dallapiccola
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.
American journal of medical genetics. Part A 2005;139(3):212-5.
2005: Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics 2005;77(6):1092-101.
2005: Marco Castori; Lorenzo Sinibaldi; Rita Mingarelli; R S Lachman; D L Rimoin; Bruno Dallapiccola
Pachydermoperiostosis: an update.
Clinical genetics 2005;68(6):477-86.
2005: Carmelo Damiano Salpietro; Silvana Briuglia; Graziella Bertuccio; Luciana Rigoli; Rita Mingarelli; Bruno Dallapiccola
Report of a third family with Oliver syndrome.
American journal of medical genetics. Part A 2005;139A(2):159-61.
2005: Laura Silvestri; Viviana Caputo; Emanuele Bellacchio; Luigia Atorino; Bruno Dallapiccola; Enza Maria Valente; Giorgio Casari
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
Human molecular genetics 2005;14(22):3477-92.
2005: Mario Vaccaro; Damiano Carmelo Salpietro; Silvana Briuglia; Maria Valeria Merlino; Fabrizio Guarneri; Bruno Dallapiccola
Cutis laxa in Kabuki make-up syndrome.
Journal of the American Academy of Dermatology 2005;53(5 Suppl 1):S247-51.
2005: Marco Castori; Enza Maria Valente; Maurizio Clementi; Alma Patrizia Tormene; Francesco Brancati; Viviana Caputo; Bruno Dallapiccola
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
Investigative ophthalmology & visual science 2005;46(10):3539-44.
2005: Paolo Versacci; Maria Cristina Digilio; Ursula Sauer; Bruno Dallapiccola; Bruno Marino
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.
American journal of medical genetics. Part A 2005;138A(2):185-6.
2005: Sabrina Prudente; Marta Letizia Hribal; Elisabetta Flex; Federica Turchi; Eleonora Morini; Salvatore De Cosmo; Simonetta Bacci; Vittorio Tassi; Marina Cardellini; Renato Lauro; Giorgio Sesti; Bruno Dallapiccola; Vincenzo Trischitta
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy.
Diabetes 2005;54(9):2807-11.
2005: Elena Pedrini; Alessandro De Luca; Enza Maria Valente; Veronica Maini; Silvia Capponcelli; Marina Mordenti; Rita Mingarelli; Luca Sangiorgi; Bruno Dallapiccola
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Human mutation 2005;26(3):280.
2005: Gerardo Piacentini; Maria Cristina Digilio; Rossella Capolino; Andrea De Zorzi; Alessandra Toscano; Anna Sarkozy; Rita D'Agostino; Maurizio Marasini; Maria Giovanna Russo; Bruno Dallapiccola; Bruno Marino
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.
American journal of medical genetics. Part A 2005;137(2):176-80.
2005: Alessandro Ferraris; Daniela Knafelz; Barbara Torres; Paolo Fortina; Massimo Castro; Bruno Dallapiccola
Analysis of CARD15 gene variants in Italian pediatric patients with inflammatory bowel diseases.
The Journal of pediatrics 2005;147(2):272-3.
2005: Liborio Stuppia; Ivana Antonucci; Francesco Binni; Alessandra Brandi; Nicoletta Grifone; Alessia Colosimo; Mariella De Santo; Valentina Gatta; Gianfranco Gelli; Valentina Guida; Silvia Majore; Giuseppe Calabrese; Chiara Palka; Anna Ravani; Rosanna Rinaldi; Gian Mario Tiboni; Enzo Ballone; Anna Venturoli; Alessandra Ferlini; Isabella Torrente; Paola Grammatico; Elisa Calzolari; Bruno Dallapiccola
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
European journal of human genetics : EJHG 2005;13(8):959-64.
2005: Anna Sarkozy; Emanuela Conti; Francesca Lepri; Antonio Pizzuti; Bruno Dallapiccola; Camillo Autore; Marco Tartaglia
Hyperthrophic cardiomyopathy and the PTPN11 gene.
American journal of medical genetics. Part A 2005;136(1):93-4.
2005: Rita Mingarelli; Daniela Zuccarello; Maria Cristina Digilio; Bruno Dallapiccola
A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
American journal of medical genetics. Part A 2005;136(1):84-6.
2005: Alberto Albanese; Enza Maria Valente; Luigi Romito; Emanuele Bellacchio; Antonio E Elia; Bruno Dallapiccola
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
Neurology 2005;64(11):1958-60.
2005: Vito Annese; Anna Latiano; Luigina Rossi; Giovanni Lombardi; Bruno Dallapiccola; Sonja Serafini; Gianluca Damonte; Angelo Andriulli; Mauro Magnani
Erythrocytes-mediated delivery of dexamethasone in steroid-dependent IBD patients-a pilot uncontrolled study.
The American journal of gastroenterology 2005;100(6):1370-5.
2005: Maria Teresa Pellecchia; Enza Maria Valente; Laura Cif; S Salvi; Alberto Albanese; Valentina Scarano; Ubaldo Bonuccelli; Anna Rita Bentivoglio; A D'Amico; Cecilia Marelli; A Di Giorgio; Philippe Coubes; Paolo Barone; Bruno Dallapiccola
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Neurology 2005;64(10):1810-2.
2005: Maria Cristina Digilio; Rossella Capolino; Bruno Marino; Anna Sarkozy; Bruno Dallapiccola
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1.
American journal of medical genetics. Part A 2005;134(4):457-8.
2005: Maria Cristina Digilio; Bruno Marino; Rossella Capolino; Adriano Angioni; Anna Sarkozy; M Cristina Roberti; Emanuela Conti; Andrea de Zorzi; Bruno Dallapiccola
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.
American journal of medical genetics. Part A 2005;134A(2):158-64.
2005: Mc Digilio; Bruno Marino; Rossella Capolino; Bruno Dallapiccola
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).
Images in paediatric cardiology 2005;7(2):23-34.
2005: Laura Bernardini; Lorenzo Sinibaldi; Caterina Ceccarini; Antonio Novelli; Bruno Dallapiccola
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.
Prenatal diagnosis 2005;25(4):283-5.
2005: Enza Maria Valente; Sarah E Marsh; Marco Castori; Tracy Dixon-Salazar; Enrico Bertini; Lihadh Al-Gazali; Jean Messer; Clara Barbot; C Geoffrey Woods; Eugen Boltshauser; Asma A Al Tawari; Carmelo Damiano Salpietro; Hulya Kayserili; László Sztriha; Moez Gribaa; Michel Koenig; Bruno Dallapiccola; Joseph G Gleeson
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Annals of neurology 2005;57(4):513-9.
2005: Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects.
American journal of medical genetics. Part A 2005;134A(1):1-2.
2005: Enza Maria Valente; M J Edwards; P Mir; A DiGiorgio; S Salvi; M Davis; N Russo; M Bozi; H-T Kim; G Pennisi; Niall Quinn; Bruno Dallapiccola; K P Bhatia
The epsilon-sarcoglycan gene in myoclonic syndromes.
Neurology 2005;64(4):737-9.
2005: Anna Sarkozy; Emanuela Conti; Rita D'Agostino; Maria Cristina Digilio; Roberto Formigari; Fernando M Picchio; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
American journal of medical genetics. Part A 2005;133A(1):68-70.
2005: Anna Sarkozy; Emanuela Conti; Cinzia Neri; R D'Agostino; Maria Cristina Digilio; G Esposito; A Toscano; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.
Journal of medical genetics 2005;42(2):e16.
2005: Antonio Novelli; Caterina Ceccarini; Laura Bernardini; Daniela Zuccarello; Maria Cristina Digilio; Rita Mingarelli; Bruno Dallapiccola
Pure trisomy 19p syndrome in an infant with an extra ring chromosome.
Cytogenetic and genome research 2005;111(2):182-5.
2005: Elisabetta Flex; Antonio Pizzuti; Carlo Di Bonaventura; S Douzgou; Gabriella Egeo; Jinane Fattouch; Mario Manfredi; Bruno Dallapiccola; Anna Teresa Giallonardo
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.
Journal of neurology 2005;252(1):62-6.
2005: Giovanni Fabbrini; Francesco Brancati; Laura Vacca; Enza Maria Valente; Andrea Nemeth; Angela Meesaq; Nuala Sykes; Bruno Dallapiccola; Alfredo Berardelli
A novel family with an unusual early-onset generalized dystonia.
Movement disorders : official journal of the Movement Disorder Society 2005;20(1):81-6.
2004: Lorenzo Sinibaldi; Alessandro De Luca; Emanuele Bellacchio; Emanuela Conti; Augusto Pasini; Claudio Paloscia; Gianfranco Spalletta; Carlo Caltagirone; Antonio Pizzuti; Bruno Dallapiccola
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Human mutation 2004;24(6):534-5.
2004: Francesco Brancati; Maria Gabriella D'Avanzo; Maria Cristina Digilio; Anna Sarkozy; Massimo Biondi; Daniele De Brasi; Rita Mingarelli; Bruno Dallapiccola
KBG syndrome in a cohort of Italian patients.
American journal of medical genetics. Part A 2004;131(2):144-9.
2004: Anna Sarkozy; Maria Gabriela Obregon; Emanuela Conti; Giorgia Esposito; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
European journal of human genetics : EJHG 2004;12(12):1069-72.
2004: Sebastiano Gangemi; Antonella Saija; Paola Lucia Minciullo; Antonio Tomaino; Francesco Cimino; Giuseppe Bisignano; Silvana Briuglia; Maria Valeria Merlino; Bruno Dallapiccola; Damiano Carmelo Salpietro
Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] 2004;53(11):601-3.
2004: V Migliosi; Elisabetta Flex; Valentina Guida; martini alessandro; N Giarbini; T Markova; Isabella Torrente; Bruno Dallapiccola
Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.
Clinical genetics 2004;66(5):478-80.
2004: Maria Savino; Maria D'Apolito; Vincenza Formica; Filomena Baorda; Francesca Mari; Alessandra Renieri; Enrico Carabba; Enrico Tarantino; Elena Andreucci; Serena Belli; Lorenzo Lo Muzio; Bruno Dallapiccola; Leopoldo Zelante; Anna Savoia
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Human mutation 2004;24(5):441.
2004: Daniela Zuccarello; E Morini; S Douzgou; Alberto Ferlin; Antonio Pizzuti; Damiano Carmelo Salpietro; Carlo Foresta; Bruno Dallapiccola
Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.
Journal of endocrinological investigation 2004;27(8):760-4.
2004: Enza Maria Valente; Sergio Salvi; Tamara Ialongo; Roberta Marongiu; Antonio E Elia; Viviana Caputo; Luigi Romito; Alberto Albanese; Bruno Dallapiccola; Anna Rita Bentivoglio
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Annals of neurology 2004;56(3):336-41.
2004: Simona Pigullo; Alessandro De Luca; Paolo Barone; Roberta Marchese; Emilia Bellone; Alessia Colosimo; Cesa Scaglione; Paolo Martinelli; Emilio Di Maria; Antonio Pizzuti; Giovanni Abbruzzese; Bruno Dallapiccola; Franco Ajmar; Paola Mandich
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Parkinsonism & related disorders 2004;10(6):357-62.
2004: Antonio Novelli; Laura Bernardini; Damiano Carmelo Salpietro; Silvana Briuglia; Maria Valeria Merlino; Rita Mingarelli; Bruno Dallapiccola
Disomy of distal Xq in males: case report and overview.
American journal of medical genetics. Part A 2004;128A(2):165-9.
2004: Giovanna Franciosa; Manoocheher Pourshaban; Alessandro De Luca; Anna Buccino; Bruno Dallapiccola; Paolo Aureli
Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography.
Applied and environmental microbiology 2004;70(7):4170-6.
2004: Valentina Guida; Alessia Colosimo; Mirella Fiorito; Enrica Foglietta; Ida Bianco; Giovanni Ivaldi; Marco Fichera; Bruno Dallapiccola
Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias.
Clinical chemistry 2004;50(7):1242-5.
2004: Luigia Rossi; Massimo Castro; Francesco D'Orio; Gianluca Damonte; Sonja Serafini; Leonardo Bigi; Ivo Panzani; Giuseppe Novelli; Bruno Dallapiccola; Simona Panunzi; Pierluigi Di Carlo; Sergio Bella; Mauro Magnani
Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients.
Blood cells, molecules & diseases 2004;33(1):57-63.
2004: Emilio Di Maria; Rossella Gulli; Silvia Begni; Alessandro De Luca; Stefano Bignotti; Augusto Pasini; Emilia Bellone; Antonio Pizzuti; Bruno Dallapiccola; Giuseppe Novelli; Franco Ajmar; Massimo Gennarelli; Paola Mandich
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):27-9.
2004: Antonio Novelli; Caterina Ceccarini; Laura Bernardini; Daniela Zuccarello; Viviana Caputo; Maria Cristina Digilio; Rita Mingarelli; Bruno Dallapiccola
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
Clinical genetics 2004;66(1):30-8.
2004: Giuseppe Miscio; Vittorio Tassi; Angelo Coco; Teresa Soccio; Rosa Di Paola; Sabrina Prudente; Roberto Baratta; Lucia Frittitta; Ornella Ludovico; Libera Padovano; Bruno Dallapiccola; Umberto Di Mario; Salvatore De Cosmo; Vincenzo Trischitta
The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance.
Journal of molecular medicine (Berlin, Germany) 2004;82(7):459-66.
2004: Antonio Novelli; Enza Maria Valente; Laura Bernardini; Caterina Ceccarini; Lorenzo Sinibaldi; Viviana Caputo; Pietro Cavalli; Bruno Dallapiccola
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
European journal of human genetics : EJHG 2004;12(7):579-83.
2004: Alessandro De Luca; Annalisa Schirinzi; Anna Buccino; Irene Bottillo; Lorenzo Sinibaldi; Isabella Torrente; Angela Ciavarella; Tania Dottorini; Roberto Porciello; Sandra Giustini; Stefano Calvieri; Bruno Dallapiccola
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
Human mutation 2004;23(6):629.
2004: Enza Maria Valente; Patrick M Abou-Sleiman; Viviana Caputo; Miratul M K Muqit; Kirsten Harvey; Suzana Gispert; Zeeshan Ali; Domenico Del Turco; Anna Rita Bentivoglio; Daniel G Healy; Alberto Albanese; Robert L Nussbaum; Rafael González-Maldonado; Thomas Deller; Sergio Salvi; Pietro Cortelli; William P Gilks; David S Latchman; Robert Justin Harvey; Bruno Dallapiccola; Georg Auburger; Nicholas W Wood
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Science (New York, N.Y.) 2004;304(5674):1158-60.
2004: Francesco Brancati; Rita Mingarelli; Anna Sarkozy; Bruno Dallapiccola
Ablepharon-macrostomia syndrome in a 46-year-old woman.
American journal of medical genetics. Part A 2004;127A(1):96-8.
2004: Anna Sarkozy; Emanuela Conti; Maria Cristina Digilio; Bruno Marino; E Morini; G Pacileo; M Wilson; R Calabrò; Antonio Pizzuti; Bruno Dallapiccola
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Journal of medical genetics 2004;41(5):e68.
2004: Maria Cristina Digilio; Isabella Torrente; Judith A Goodship; Bruno Marino; Giuseppe Novelli; Aldo Giannotti; Bruno Dallapiccola
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p.
American journal of medical genetics. Part A 2004;126A(3):319-23.
2004: Alberto Ferlin; Andrea Bettella; Andrea Tessari; Elena Salata; Bruno Dallapiccola; Carlo Foresta
Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility.
Fertility and sterility 2004;81(4):1013-8.
2004: Antonio Pizzuti; Giovanni Fabbrini; Leila Baghernajad Salehi; Laura Vacca; Maurizio Inghilleri; Bruno Dallapiccola; A Berardelli
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.
Neurology 2004;62(6):1021-2.
2004: Carmelo Damiano Salpietro; Silvana Briuglia; Maria Valeria Merlino; Basilia Piraino; Mariella Valenzise; Bruno Dallapiccola
Hallerman-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1.
American journal of medical genetics. Part A 2004;125A(2):216-8.
2004: Antonio Pizzuti; Elisabetta Flex; Rita Mingarelli; Carmelo Damiano Salpietro; Leopoldo Zelante; Bruno Dallapiccola
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Human mutation 2004;23(3):286.
2004: Isabella Torrente; Franco Arturi; Leonardo D'Aloiso; Alessia Colosimo; Alessandro De Luca; Elisabetta Ferretti; Diego Russo; Eusebio Chiefari; Daniela Scarpelli; Michele Bisceglia; Bruno Dallapiccola; Sebastiano Filetti
Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma.
Journal of endocrinological investigation 2004;27(2):111-6.
2004: Maria Cristina Digilio; Giuseppe Pacileo; Anna Sarkozy; Giuseppe Limongelli; Emanuela Conti; Fabiana Cerrato; Bruno Marino; Antonio Pizzuti; Raffaele Calabrò; Bruno Dallapiccola
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(2):95-8.
2004: Carlo Casali; Enza Maria Valente; Enrico Bertini; G Montagna; Chiara Criscuolo; Giuseppe De Michele; Marcello Villanova; Maria Damiano; Alberto Pierallini; Francesco Brancati; Valentina Scarano; Alessandra Tessa; Federica Cricchi; Gabriella Grieco; Maria Muglia; M Carella; B Martini; A Rossi; Giuseppe Amabile; Giuseppe Nappi; Alessandro Filla; Bruno Dallapiccola; Filippo M Santorelli
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Neurology 2004;62(2):262-8.
2003: Francesco Brancati; Rita Mingarelli; Bruno Dallapiccola
Recurrent triploidy of maternal origin.
European journal of human genetics : EJHG 2003;11(12):972-4.
2003: Francesco Brancati; Enza Maria Valente; Gianluca Tadini; Viviana Caputo; A Di Benedetto; Carlo Gelmetti; Bruno Dallapiccola
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
Journal of medical genetics 2003;40(11):849-53.
2003: Antonio Pizzuti; Anna Sarkozy; Anthea L Newton; Emanuela Conti; Elisabetta Flex; Maria Cristina Digilio; Francesca Amati; Debora Gianni; Caterina Tandoi; Bruno Marino; Merlin Crossley; Bruno Dallapiccola
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Human mutation 2003;22(5):372-7.
2003: Orazio Palmieri; Stephen Toth; Alessandro Ferraris; Angelo Andriulli; Anna Latiano; Vito Annese; Bruno Dallapiccola; Maurizio Vecchi; Marcella Devoto; Saul Surrey; Paolo Fortina
CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.
Clinical chemistry 2003;49(10):1675-9.
2003: Enza Maria Valente; Anjum Misbahuddin; Francesco Brancati; Mark R Placzek; Barbara Garavaglia; Sergio Salvi; Andrea Nemeth; Charles Shaw-Smith; Nardo Nardocci; Anna Rita Bentivoglio; Alfredo Berardelli; Roberto Eleopra; Bruno Dallapiccola; Thomas T Warner
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.
Movement disorders : official journal of the Movement Disorder Society 2003;18(9):1047-51.
2003: Alberto Ferlin; Mauro Simonato; Lucia Bartoloni; Giorgia Rizzo; Andrea Bettella; Tania Dottorini; Bruno Dallapiccola; Carlo Foresta
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
The Journal of clinical endocrinology and metabolism 2003;88(9):4273-9.
2003: Anna Sarkozy; Emanuela Conti; Davide Seripa; Maria Cristina Digilio; N Grifone; Caterina Tandoi; V M Fazio; V Di Ciommo; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Journal of medical genetics 2003;40(9):704-8.
2003: Dieter C Gruenert; Emanuela Bruscia; Giuseppe Novelli; Alessia Colosimo; Bruno Dallapiccola; Federica Sangiuolo; Kaarin K Goncz
Sequence-specific modification of genomic DNA by small DNA fragments.
The Journal of clinical investigation 2003;112(5):637-41.
2003: Francesco Brancati; Enza Maria Valente; Nicholas P Davies; Anna Sarkozy; Mary G Sweeney; M LoMonaco; A Pizzuti; Michael G Hanna; Bruno Dallapiccola
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Journal of neurology, neurosurgery, and psychiatry 2003;74(9):1339-41.
2003: Maria Cristina Digilio; Aldo Giannotti; Massimo Castro; Franco Colistro; Francesca Ferretti; Bruno Marino; Bruno Dallapiccola
Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome).
American journal of medical genetics. Part A 2003;121A(3):286-8.
2003: Carmelo Damiano Salpietro; Silvana Briuglia; Luciana Rigoli; Maria Valeria Merlino; Bruno Dallapiccola
Confirmation of Nablus mask-like facial syndrome.
American journal of medical genetics. Part A 2003;121A(3):283-5.
2003: Francesca Amati; Ivano Condò; Emanuela Conti; Federica Sangiuolo; Bruno Dallapiccola; Roberto Testi; Giuseppe Novelli
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.
Cell biochemistry and function 2003;21(3):263-7.
2003: Enza Maria Valente; Damiano Carmelo Salpietro; Francesco Brancati; Enrico Bertini; Tiziana Galluccio; Gaetano Tortorella; Silvana Briuglia; Bruno Dallapiccola
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
American journal of human genetics 2003;73(3):663-70.
2003: Maria Cristina Digilio; Adriano Angioni; Aldo Giannotti; Bruno Dallapiccola; Bruno Marino
Truncus arteriosus and duplication 8q.
American journal of medical genetics. Part A 2003;121A(1):79-81.
2003: Sebastiano Gangemi; Antonella Saija; Antonio Tomaino; Francesco Cimino; Rosaria Alba Merendino; Paola Lucia Minciullo; Silvana Briuglia; Maria Valeria Merlino; Bruno Dallapiccola; Benito Ferlazzo; Damiano Carmelo Salpietro
Protein carbonyl group content in patients affected by familiar chronic nail candidiasis.
Mediators of inflammation 2003;12(4):247-9.
2003: Alessandro De Luca; Mario Rizzardi; Anna Buccino; Rosina Alessandroni; Gian Paolo Salvioli; Nando Filograsso; Giuseppe Novelli; Bruno Dallapiccola
Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants.
Neurogenetics 2003;4(4):207-12.
2003: E Conti; Tania Dottorini; Anna Sarkozy; G E Tiller; G Esposito; Antonio Pizzuti; Bruno Dallapiccola
A novel PTPN11 mutation in LEOPARD syndrome.
Human mutation 2003;21(6):654.
2003: Massimo Mangino; Damiano Carmelo Salpietro; Daniela Zuccarello; Sebastiano Gangemi; Luciana Rigoli; Maria Valeria Merlino; Silvana Briuglia; Giuseppe Bisignano; Rita Mingarelli; Bruno Dallapiccola
A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.
European journal of human genetics : EJHG 2003;11(6):433-6.
2003: Alessia Colosimo; Valentina Guida; Luciana Rigoli; Chiara Di Bella; Alessandro De Luca; Silvana Briuglia; Liborio Stuppia; Damiano Carmelo Salpietro; Bruno Dallapiccola
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Human mutation 2003;21(6):622-9.
2003: Francesco Brancati; Enza Maria Valente; Marco Castori; Nicola Vanacore; Mariateresa Sessa; Giuseppe Galardi; Alfredo Berardelli; Anna Rita Bentivoglio; Giovanni Defazio; Paolo Girlanda; Giovanni Abbruzzese; Alberto Albanese; Bruno Dallapiccola
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.
Journal of neurology, neurosurgery, and psychiatry 2003;74(5):665-6.
2003: Alessia Colosimo; Valentina Guida; Elisabetta Flex; Emanuela Conti; Bruno Dallapiccola
Use of DHPLC for rapid screening of recombinant clones.
BioTechniques 2003;34(4):706-8.
2003: Emanuela Conti; Nicoletta Grifone; Anna Sarkozy; Caterina Tandoi; Bruno Marino; Maria Cristina Digilio; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
European journal of human genetics : EJHG 2003;11(4):349-51.
2003: Elisabetta Flex; Massimo Mangino; M Mazzoli; martini alessandro; V Migliosi; Alessia Colosimo; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Journal of medical genetics 2003;40(4):278-81.
2003: Maria Cristina Digilio; Bruno Marino; Aldo Giannotti; Bruno Dallapiccola; John M Opitz
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
Birth defects research. Part A, Clinical and molecular teratology 2003;67(3):149-53.
2003: Antonio Pizzuti; Elisabetta Flex; Carlo Di Bonaventura; Tania Dottorini; Gabriella Egeo; Mario Manfredi; Bruno Dallapiccola; Anna Teresa Giallonardo
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
Annals of neurology 2003;53(3):396-9.
2003: Alessandro De Luca; Anna Buccino; Debora Gianni; Massimo Mangino; Sandra Giustini; Antonio Richetta; Luigina Divona; Stefano Calvieri; Rita Mingarelli; Bruno Dallapiccola
NF1 gene analysis based on DHPLC.
Human mutation 2003;21(2):171-2.
2003: Giovanni Defazio; Francesco Brancati; Enza Maria Valente; Viviana Caputo; Antonio Pizzuti; Davide Martino; Giovanni Abbruzzese; Paolo Livrea; Alfredo Berardelli; Bruno Dallapiccola
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
Movement disorders : official journal of the Movement Disorder Society 2003;18(2):207-12.
2003: Anna Sarkozy; Emanuela Conti; Giorgia Esposito; Antonio Pizzuti; Bruno Dallapiccola; Rita Mingarelli; Bruno Marino; Maria Cristina Digilio; Vincenzo Paoletti
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene.
American journal of medical genetics. Part A 2003;116A(4):389-90.
2003: Massimo Mangino; Antonio Pizzuti; Bruno Dallapiccola; Aldo Bonfante; Donatella Saccilotto; Elena Cucchiara
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci.
American journal of medical genetics. Part A 2003;116A(3):312-4.
2003: Alessia Colosimo; Valentina Guida; Anna Scolari; Alessandro De Luca; Giandomenico Palka; Luciana Rigoli; Anna Meo; Damiano Carmelo Salpietro; Bruno Dallapiccola
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy.
Genetic testing 2003;7(3):269-75.
2003: Alberto Ferlin; Enrico Moro; A Rossi; Bruno Dallapiccola; Carlo Foresta
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men.
Journal of medical genetics 2003;40(1):18-24.
2003: Alessandro De Luca; Emanuela Conti; Nicoletta Grifone; Francesca Amati; Gianfranco Spalletta; Carlo Caltagirone; Giuseppina Bonaviri; Augusto Pasini; Massimo Gennarelli; Bignotti Stefano; Lucia Berti; Gerhard Mittler; Michael Meisterernst; Bruno Dallapiccola; Giuseppe Novelli
Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;116B(1):32-5.
2002: Antonio Pizzuti; Giuseppe Calabrese; Maura Bozzali; Louise Telvi; Elisena Morizio; Valentina Guida; Valentina Gatta; Liborio Stuppia; Alexandra Ion; Giandomenico Palka; Bruno Dallapiccola
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.
Investigative ophthalmology & visual science 2002;43(12):3609-12.
2002: Rosa Santacroce; Antonia Ratti; Francesco Caroli; Barbara Foglieni; Alessandro Ferraris; Laura Cremonesi; Maurizio Margaglione; Marco Seri; Roberto Ravazzolo; Gabriella Restagno; Bruno Dallapiccola; Eric F Rappaport; Eleanor S Pollak; Saul Surrey; Maurizio Ferrari; Paolo Fortina
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.
Clinical chemistry 2002;48(12):2124-30.
2002: Rama Kudaravalli; Theresa Tidd; Mirko Pinotti; Antonia Ratti; Rosa Santacroce; Maurizio Margaglione; Bruno Dallapiccola; francesco bernardi; Paolo Fortina; Marcella Devoto; Eleanor S Pollak
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength.
Thrombosis and haemostasis 2002;88(5):763-7.
2002: Leila Baghernajad Salehi; Massimo Mangino; Salvatore De Serio; Domenico De Cicco; Francesca Capon; Sabrina Semprini; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
Human genetics 2002;111(4-5):401-4.
2002: Alessandro Ferraris; Eric F Rappaport; Rosa Santacroce; Eleanor S Pollak; Ian D Krantz; Stephen Toth; Frida Lysholm; Maurizio Margaglione; Gabriella Restagno; Bruno Dallapiccola; Saul Surrey; Paolo Fortina
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Human mutation 2002;20(4):312-20.
2002: Enza Maria Valente; Francesco Brancati; Viviana Caputo; E A Graham; Mary B Davis; Alessandro Ferraris; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6 is a common cause of familial parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S117-8.
2002: Antonio Pizzuti; Alessandra Argiolas; Rosa Di Paola; Roberto Baratta; Anna Rauseo; Maura Bozzali; Riccardo Vigneri; Bruno Dallapiccola; Vincenzo Trischitta; Lucia Frittitta
An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.
The Journal of clinical endocrinology and metabolism 2002;87(9):4403-6.
2002: Anna Sarkozy; Rita Mingarelli; Francesco Brancati; Bruno Dallapiccola
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.
American journal of medical genetics 2002;111(4):412-4.
2002: Daniela Zuccarello; Damiano Carmelo Salpietro; Sebastiano Gangemi; V Toscano; Maria Valeria Merlino; Silvana Briuglia; Giuseppe Bisignano; Massimo Mangino; Rita Mingarelli; Bruno Dallapiccola
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis.
Journal of medical genetics 2002;39(9):671-5.
2002: Giuseppe Novelli; Antoine Muchir; Federica Sangiuolo; Anne Helbling-Leclerc; Maria Rosaria D'Apice; Catherine Massart; Francesca Capon; Paolo Sbraccia; Massimo Federici; Renato Lauro; Cosimo Tudisco; Rosanna Pallotta; Gioacchino Scarano; Bruno Dallapiccola; Luciano Merlini; Gisèle Bonne
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
American journal of human genetics 2002;71(2):426-31.
2002: Maria Cristina Digilio; Emanuela Conti; Anna Sarkozy; Rita Mingarelli; Tania Dottorini; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
American journal of human genetics 2002;71(2):389-94.
2002: Paola Origone; Alessandro De Luca; Carlo Bellini; Anna Buccino; Rita Mingarelli; Simona Costabel; Carmen La Rosa; Cecilia Garrè; Domenico A Coviello; Franco Ajmar; Bruno Dallapiccola; Eugenio Bonioli
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
Human mutation 2002;20(1):74-5.
2002: Enza Maria Valente; Francesco Brancati; Viviana Caputo; Enrico Bertini; Clarice Patrono; Danilo Costanti; Bruno Dallapiccola
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.
Annals of neurology 2002;51(6):681-5.
2002: Alessia Colosimo; Valentina Guida; Giandomenico Palka; Bruno Dallapiccola
Extrachromosomal genes: a powerful tool in gene targeting approaches.
Gene therapy 2002;9(11):679-82.
2002: Dieter C Gruenert; Giuseppe Novelli; Bruno Dallapiccola; Alessia Colosimo
Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy.
Gene therapy 2002;9(11):653-7.
2002: Elisabetta Flex; Alessandro De Luca; Maria Rosaria D'Apice; Anna Buccino; Bruno Dallapiccola; Giuseppe Novelli
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Neuromuscular disorders : NMD 2002;12(5):501-5.
2002: Francesca Amati; Emanuela Conti; Annalisa Botta; Paola Amicucci; Bruno Dallapiccola; Giuseppe Novelli
Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).
Cell biochemistry and function 2002;20(2):163-70.
2002: Carlo Foresta; Alberto Ferlin; Luca Gianaroli; Bruno Dallapiccola
Guidelines for the appropriate use of genetic tests in infertile couples.
European journal of human genetics : EJHG 2002;10(5):303-12.
2002: Francesca Lombardo; Eric Baudin; Eusebio Chiefari; Franco Arturi; Stéphane Bardet; Bernard Caillou; Chiara Conte; Bruno Dallapiccola; Dario Giuffrida; Jean-Michel Bidart; Martin Schlumberger; Sebastiano Filetti
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
The Journal of clinical endocrinology and metabolism 2002;87(4):1674-80.
2002: Francesco Brancati; Giovanni Defazio; Viviana Caputo; Enza Maria Valente; Antonio Pizzuti; Paolo Livrea; Alfredo Berardelli; Bruno Dallapiccola
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):392-7.
2002: Massimo Mangino; Elisabetta Flex; Maria Cristina Digilio; Aldo Giannotti; Bruno Dallapiccola
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
Human mutation 2002;19(3):308.
2002: Alessia Colosimo; Valentina Guida; Alessandro De Luca; Maria Pia Cappabianca; Ida Bianco; Giandomenico Palka; Bruno Dallapiccola
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
Human mutation 2002;19(3):287-95.
2002: Alessandra Toscano; Silvia Anaclerio; Maria Cristina Digilio; Aldo Giannotti; Giuseppe Fariello; Bruno Dallapiccola; Bruno Marino
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
European journal of pediatrics 2002;161(2):116-7.
2002: Bruno Marino; Maria Cristina Digilio; Paolo Versacci; Silvia Anaclerio; Bruno Dallapiccola
[Transposition of great arteries. Understanding its pathogenesis].
Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology 2002;3(2):154-60.
2002: Carlo Foresta; Andrea Bettella; Alberto Ferlin; Andrea Garolla; Enrico Moro; Fulvia Baldinotti; Paolo Simi; Bruno Dallapiccola
Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene.
American journal of medical genetics 2002;107(3):259-60.
2002: Enza Maria Valente; Francesco Brancati; Alessandro Ferraris; Elizabeth A Graham; Mary B Davis; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Dietmar Wassilowsky; Biswadjiet S Harhangi; Nina Rawal; Viviana Caputo; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2001: A Giannotti; G Tiberio; Massimo Castro; F Virgilii; Franco Colistro; Francesca Ferretti; MC Digilio; Manuela Gambarara; Bruno Dallapiccola
Coeliac disease in Williams syndrome.
Journal of medical genetics 2001;38(11):767-8.
2001: Annalisa Botta; C Tandoi; G Fini; G Calabrese; Bruno Dallapiccola; Giuseppe Novelli
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L).
Gene 2001;275(1):39-46.
2001: Massimo Mangino; Elisabetta Flex; Francesca Capon; Federica Sangiuolo; E Carraro; Francesca Gualandi; M Mazzoli; martini alessandro; Giuseppe Novelli; Bruno Dallapiccola
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
European journal of human genetics : EJHG 2001;9(9):667-71.
2001: Alessandro De Luca; Augusto Pasini; Francesca Amati; Annalisa Botta; Gianfranco Spalletta; S Alimenti; F Caccamo; Emanuela Conti; Joseph Trakalo; Fabio Macciardi; Bruno Dallapiccola; Giuseppe Novelli
Association study of a promoter polymorphism of UFD1L gene with schizophrenia.
American journal of medical genetics 2001;105(6):529-33.
2001: Lucia Berti; Gerhard Mittler; Gerhard K H Przemeck; Gertraud Stelzer; B Günzler; Francesca Amati; Emanuela Conti; Bruno Dallapiccola; Martin Hrabé De Angelis; G Novelli; Michael Meisterernst
Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
Genomics 2001;74(3):320-32.
2001: Kaarin K Goncz; Alessia Colosimo; Bruno Dallapiccola; LUCIE GAGNÉ; K Hong; Giuseppe Novelli; D Papahadjopoulos; T Sawa; Hans Schreier; jeanine wiener-kronish; Z Xu; Dieter C Gruenert
Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.
Gene therapy 2001;8(12):961-5.
2001: Silvia Anaclerio; Bruno Marino; A Carotti; Maria Cristina Digilio; Alessandra Toscano; P Gitto; Aldo Giannotti; Roberto M Di Donato; Bruno Dallapiccola
Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.
Italian heart journal : official journal of the Italian Federation of Cardiology 2001;2(5):384-7.
2001: Francesca Capon; Sabrina Semprini; Sergio Chimenti; Giuseppe Fabrizi; Giovanna Zambruno; S Murgia; C Carcassi; M Fazio; Rita Mingarelli; Bruno Dallapiccola; Giuseppe Novelli
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21.
The Journal of investigative dermatology 2001;116(5):728-30.
2001: Alessandro De Luca; M Rizzardi; Isabella Torrente; Rosina Alessandroni; Gian Paolo Salvioli; N Filograsso; Bruno Dallapiccola; Giuseppe Novelli
Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates.
Neurogenetics 2001;3(2):79-82.
2001: C Tandoi; Annalisa Botta; G Fini; Federica Sangiuolo; Giuseppe Novelli; R Ricci; G Zampino; C Anichini; Bruno Dallapiccola
Exclusion of the elastin gene in the pathogenesis of Costello syndrome.
American journal of medical genetics 2001;98(3):286-7.
2001: Alessandro De Luca; Isabella Torrente; Massimo Mangino; R Danesi; Bruno Dallapiccola; Giuseppe Novelli
Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.
Mutation research 2001;432(3-4):79-82.
2001: Antonia Ratti; Francesca Amati; M Bozzali; Emanuela Conti; Federica Sangiuolo; Maria Berloco; G Palumbo; A Botta; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster.
Cytogenetics and cell genetics 2001;92(3-4):279-82.
2001: Bruno Marino; Maria Cristina Digilio; Alessandra Toscano; Silvia Anaclerio; Aldo Giannotti; C Feltri; Maria Antonietta De Ioris; A Angioni; Bruno Dallapiccola
Anatomic patterns of conotruncal defects associated with deletion 22q11.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):45-8.
2001: Sabrina Semprini; Alessandra Tacconelli; Francesca Capon; F Brancati; Bruno Dallapiccola; Giuseppe Novelli
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
Genetic testing 2001;5(1):33-7.
2000: Bruno Dallapiccola; G Novelli
Male infertility, pleiotropic genes, and increased risk of diseases in future generations.
Journal of endocrinological investigation 2000;23(9):557-9.
2000: Federica Sangiuolo; Emanuela Bruscia; Francesca Capon; Serenella Servidei; Bruno Dallapiccola; Giuseppe Novelli
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
European journal of human genetics : EJHG 2000;8(10):809-12.
2000: Francesca Capon; Alessandra Tacconelli; Emiliano Giardina; S Sciacchitano; R Bruno; Vittorio Tassi; Vincenzo Trischitta; Sebastiano Filetti; Bruno Dallapiccola; Giuseppe Novelli
Mapping a dominant form of multinodular goiter to chromosome Xp22.
American journal of human genetics 2000;67(4):1004-7.
2000: Cosimo Tudisco; G Canepa; Giuseppe Novelli; Bruno Dallapiccola
Familial mandibuloacral dysplasia: report of an additional Italian patient.
American journal of medical genetics 2000;94(3):237-41.
2000: Maria Cristina Digilio; Bruno Marino; Aldo Giannotti; R Di Donato; Bruno Dallapiccola
Heterotaxy with left atrial isomerism in a patient with deletion 18p.
American journal of medical genetics 2000;94(3):198-200.
2000: Francesca Capon; Bruno Dallapiccola; Giuseppe Novelli
Advances in the search for psoriasis susceptibility genes.
Molecular genetics and metabolism 2000;71(1-2):250-5.
2000: Sabrina Semprini; Ruggiero Mango; F Brancati; Bruno Dallapiccola; Lucia Becherini; Giuseppe Novelli; A De Lorenzo; M L Brandi; L Gennari
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women.
Calcified tissue international 2000;67(1):93-4.
2000: Paola Amicucci; Massimo Gennarelli; Giuseppe Novelli; Bruno Dallapiccola
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.
Clinical chemistry 2000;46(2):301-2.
2000: Katia Margiotti; Federica Sangiuolo; Alessandro De Luca; F Froio; Celeste L Pearce; V Ricci-Barbini; Francesco Micali; M Bonafe; C Franceschi; Bruno Dallapiccola; Giuseppe Novelli; Juergen K V Reichardt
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.
Disease markers 2000;16(3-4):147-50.
1999: Annalisa Botta; Federica Sangiuolo; L Calza; L Giardino; S Potenza; Giuseppe Novelli; Bruno Dallapiccola
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.
Genomics 1999;62(3):525-8.
1999: Francesca Amati; Emanuela Conti; Antonio Novelli; Mario Bengala; M C Diglio; Bruno Marino; A Giannotti; Orazio Gabrielli; Giuseppe Novelli; Bruno Dallapiccola
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
European journal of human genetics : EJHG 1999;7(8):903-9.
1999: Bruno Marino; Maria Cristina Digilio; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.
The Journal of pediatrics 1999;135(6):703-6.
1999: Francesca Capon; Sabrina Semprini; Bruno Dallapiccola; Giuseppe Novelli
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.
American journal of human genetics 1999;65(6):1798-800.
1999: Serenella Servidei; Francesca Capon; antonella spinazzola; Massimiliano Mirabella; Sabrina Semprini; G de Rosa; Massimo Gennarelli; Federica Sangiuolo; Enzo Ricci; Harvey W Mohrenweiser; Bruno Dallapiccola; Pietro Tonali; Giuseppe Novelli
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Neurology 1999;53(4):830-7.
1999: Bruno Marino; Maria Cristina Digilio; M Persiani; Roberto M Di Donato; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Deletion 22q11 in patients with interrupted aortic arch.
The American journal of cardiology 1999;84(3):360-1, A9.
1999: Antonio Novelli; M Sabani; A Caiola; M C Digilio; A Giannotti; Rita Mingarelli; Giuseppe Novelli; Bruno Dallapiccola
Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
Molecular and cellular probes 1999;13(4):303-7.
1999: Massimo Mangino; O Sanchez; Isabella Torrente; Alessandro De Luca; Francesca Capon; Giuseppe Novelli; Bruno Dallapiccola
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.
American journal of human genetics 1999;65(2):441-7.
1999: Maria Cristina Digilio; Bruno Marino; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.
American journal of medical genetics 1999;85(2):140-6.
1999: A Colosimo; Annalucia Serafino; Federica Sangiuolo; S Di Sario; Emanuela Bruscia; Paola Amicucci; Giuseppe Novelli; Bruno Dallapiccola; G Mossa
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.
Biochimica et biophysica acta 1999;1419(2):186-94.
1999: Massimo Gennarelli; M Pavoni; Fulvio Cruciani; Gianfranco De Stefano; Bruno Dallapiccola; Giuseppe Novelli
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia.
Human genetics 1999;105(1-2):165-7.
1999: Giuseppe Novelli; Francesca Amati; Bruno Dallapiccola
UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
Trends in genetics : TIG 1999;15(7):251-4.
1999: Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; Roberta Bordoni; Paola Mandich; Emilia Bellone; Emanuela Conti; Mario Bengala; A Mari; Vincenzo Silani; Bruno Dallapiccola
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.
Molecular genetics and metabolism 1999;67(3):227-35.
1999: Annalisa Botta; Giuseppe Novelli; A Mari; Antonio Novelli; M Sabani; J Korenberg; Lucy Osborne; M C Digilio; A Giannotti; Bruno Dallapiccola
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Journal of medical genetics 1999;36(6):478-80.
1999: Massimo Gennarelli; M Pavoni; Paola Amicucci; Corrado Angelini; E Menegazzo; G Zelano; Giuseppe Novelli; Bruno Dallapiccola
Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.
Neuromuscular disorders : NMD 1999;9(4):215-9.
1999: Annalucia Serafino; Giuseppe Novelli; S Di Sario; A Colosimo; Paola Amicucci; Federica Sangiuolo; G Mossa; Bruno Dallapiccola
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.
Biochemistry and molecular biology international 1999;47(2):337-44.
1999: Sabrina Semprini; Francesca Capon; S Bovolenta; Emanuela Bruscia; Antonio Pizzuti; Giuseppe Fabrizi; Cataldo Schietroma; Giovanna Zambruno; Bruno Dallapiccola; Giuseppe Novelli
Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility.
Human genetics 1999;104(2):130-4.
1999: Rita Mingarelli; Vahe Mokini; Alessandro Castriota-Scanderbeg; Bruno Dallapiccola
Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.
Clinical dysmorphology 1999;8(1):73-5.
1999: Massimo Mangino; Isabella Torrente; Alessandro De Luca; O Sanchez; Bruno Dallapiccola; Giuseppe Novelli
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
Journal of human genetics 1999;44(1):76-7.
1999: Francesca Capon; Giuseppe Novelli; Sabrina Semprini; M Clementi; M Nudo; P Vultaggio; Cinzia Mazzanti; Tommaso Gobello; Annalisa Botta; Giuseppe Fabrizi; Bruno Dallapiccola
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1.
The Journal of investigative dermatology 1999;112(1):32-5.
1999: Alessandro De Luca; Isabella Torrente; Massimo Mangino; E Bertini; Bruno Dallapiccola; Giuseppe Novelli
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
Human heredity 1999;49(1):59-60.
1998: Massimo Gennarelli; M Pavoni; Paola Amicucci; Giuseppe Novelli; Bruno Dallapiccola
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 1998;7(3):135-7.
1998: Massimo Gennarelli; M Lucarelli; Paola Amicucci; S Soddu; Giuseppe Novelli; Bruno Dallapiccola
Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity.
Cell biochemistry and function 1998;16(2):117-22.
1998: Isabella Torrente; Massimo Mangino; Alessandro De Luca; Rita Mingarelli; M Gennarelli; Aldo Giannotti; Giuseppe Novelli; Bruno Dallapiccola
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
Prenatal diagnosis 1998;18(5):504-6.
1998: Giuseppe Novelli; A Mari; Francesca Amati; A Colosimo; Federica Sangiuolo; Mario Bengala; Emanuela Conti; Antonia Ratti; Roberta Bordoni; Antonio Pizzuti; A Baldini; R Crinelli; Franco Pandolfi; M Magnani; Bruno Dallapiccola
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).
Biochimica et biophysica acta 1998;1396(2):158-62.
1998: A Mari; Francesca Amati; Emanuela Conti; Mario Bengala; Giuseppe Novelli; Bruno Dallapiccola
A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.
Clinical genetics 1998;53(3):226-7.
1998: Federica Sangiuolo; Annalisa Botta; A Mesoraca; Serenella Servidei; Luciano Merlini; G Fratta; Giuseppe Novelli; Bruno Dallapiccola
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Human mutation 1998;11(4):331.
1997: Isabella Torrente; Massimo Mangino; M Gennarelli; Giuseppe Novelli; A Giannotti; P Vadalà; Bruno Dallapiccola
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
American journal of medical genetics 1997;72(2):242-4.
1997: Bruno Marino; Maria Cristina Digilio; G Novelli; Aldo Giannotti; Bruno Dallapiccola
Tricuspid atresia and 22q11 deletion.
American journal of medical genetics 1997;72(1):40-2.
1997: Giuseppe Novelli; Laura Calzà; Paola Amicucci; Luciana Giardino; M Pozza; V Silani; Antonio Pizzuti; Massimo Gennarelli; G Piombo; Francesca Capon; Bruno Dallapiccola
Expression study of survival motor neuron gene in human fetal tissues.
Biochemical and molecular medicine 1997;61(1):102-6.
1997: Giuseppe Novelli; Sabrina Semprini; Francesca Capon; Bruno Dallapiccola
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
Neurogenetics 1997;1(1):29-30.
1997: Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; A Mari; Giuseppe Calabrese; Silvia K Nicolis; Vincenzo Silani; Bruno Marino; Guglielmo Scarlato; Sergio Ottolenghi; Bruno Dallapiccola
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.
Human molecular genetics 1997;6(2):259-65.
1997: Paola Francalanci; P Gallo; Bruno Dallapiccola; Giuseppe Calabrese; Bruno Marino
A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago.
The American journal of cardiology 1997;79(2):245-7.
1997: Marco Lucarelli; Massimo Gennarelli; Patrizia Cardelli; Giuseppe Novelli; Sigfrido Scarpa; Bruno Dallapiccola; Roberto Strom
Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels.
FEBS letters 1997;401(1):53-8.
1997: Bruno Dallapiccola; Isabella Torrente; Rita Mingarelli; Giuseppe Novelli
From genetic research into clinical practice.
Acta geneticae medicae et gemellologiae 1997;46(3):139-46.
1997: Anna Savoia; Maria Rosaria Piemontese; Maria Savino; Adriana Zatterale; J Pronk; Fré Arwert; Hans Joenje; Ugo Ramenghi; F Dagna-Bricarelli; Bruno Dallapiccola; Leopoldo Zelante
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.
Human genetics 1997;99(1):93-7.
1996: Massimo Gennarelli; Giuseppe Novelli; F Andreasi Bassi; Lluis Martorell; M Cornet; E Menegazzo; Maria Luisa Mostacciuolo; J M Martinez; Corrado Angelini; Antonio Pizzuti; Montserrat Baiget; Bruno Dallapiccola
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
American journal of medical genetics 1996;65(4):342-7.
1996: Rita Mingarelli; Alessandro Castriota-Scanderbeg; Bruno Dallapiccola
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
Journal of medical genetics 1996;33(10):884-6.
1996: Francesca Capon; C Levato; Luciano Merlini; Corrado Angelini; M L Mostacciuolo; L Politano; Giuseppe Novelli; Bruno Dallapiccola
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.
Neuromuscular disorders : NMD 1996;6(4):261-4.
1996: A Mesoraca; Gianluigi Pilu; A Perolo; Giuseppe Novelli; N Salfi; A Lucchi; Luciano Bovicelli; Bruno Dallapiccola
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.
Prenatal diagnosis 1996;16(8):764-8.
1996: Antonio Pizzuti; Francesca Amati; Giuseppe Calabrese; A Mari; A Colosimo; Vincenzo Silani; Luciana Giardino; Antonia Ratti; D Penso; Laura Calzà; Giandomenico Palka; Guglielmo Scarlato; Giuseppe Novelli; Bruno Dallapiccola
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.
Human molecular genetics 1996;5(7):953-8.
1996: Maria Cristina Digilio; B Marino; S Grazioli; D Agostino; A Giannotti; Bruno Dallapiccola
Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.
The American journal of cardiology 1996;77(15):1375-6.
1996: Rita Mingarelli; Maria Cristina Digilio; A Mari; Francesca Amati; L Standoli; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
The search for hemizygosity at 22qll in patients with isolated cleft palate.
Journal of craniofacial genetics and developmental biology 1996;16(2):118-21.
1996: Antonio Pizzuti; Giuseppe Novelli; A Mari; Antonia Ratti; A Colosimo; Francesca Amati; D Penso; Federica Sangiuolo; Giuseppe Calabrese; Giandomenico Palka; Vincenzo Silani; Massimo Gennarelli; Rita Mingarelli; Guglielmo Scarlato; Peter J Scambler; Bruno Dallapiccola
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.
American journal of human genetics 1996;58(4):722-9.
1996: Giuseppe Novelli; Francesca Capon; C Levato; A Cavicchini; Bruno Dallapiccola
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies.
Clinical chemistry 1996;42(4):643-4.
1996: B Marino; Maria Cristina Digilio; S Grazioli; Roberto Formigari; R Mingarelli; A Giannotti; Bruno Dallapiccola
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.
The American journal of cardiology 1996;77(7):505-8.
1996: Francesca Capon; C Levato; Sabrina Semprini; Antonio Pizzuti; Luciano Merlini; Giuseppe Novelli; Bruno Dallapiccola
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.
Muscle & nerve 1996;19(3):378-80.
1996: A Massari; Giuseppe Novelli; A Colosimo; Federica Sangiuolo; Giandomenico Palka; Giuseppe Calabrese; L Camurri; G Ghirardini; G Milani; C Giorlandino; Giancarlo Gazzanelli; Manuela Malatesta; C Romanini; Bruno Dallapiccola
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.
Human genetics 1996;97(2):150-5.
1996: Paola Iannetti; Alberto Spalice; Rita Mingarelli; U Raucci; Antonio Novelli; Bruno Dallapiccola
Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q.
Annales de génétique 1996;39(1):26-30.
1996: P Maceratesi; Federica Sangiuolo; Giuseppe Novelli; P Ninfali; M Magnani; Juergen K V Reichardt; Bruno Dallapiccola
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Human mutation 1996;8(4):369-72.
1996: A Colosimo; Giuseppe Calabrese; Massimo Gennarelli; A M Ruzzo; Federica Sangiuolo; Mauro Magnani; Giandomenico Palka; Giuseppe Novelli; Bruno Dallapiccola
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization.
Cytogenetics and cell genetics 1996;74(3):187-8.
1996: A Colosimo; Giuseppe Novelli; A Cavicchini; Bruno Dallapiccola
Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay.
International journal of clinical & laboratory research 1996;26(2):136-9.
1996: Francesca Capon; C Levato; E Bussaglia; S Lo Cicero; Eduardo F Tizzano; Montserrat Baiget; Vincenzo Silani; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Human mutation 1996;7(3):198-201.
1995: B Marino; M G Gagliardi; Maria Cristina Digilio; B Polletta; S Grazioli; D Agostino; A Giannotti; Bruno Dallapiccola
Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.
European journal of pediatrics 1995;154(12):949-52.
1995: Massimo Gennarelli; Marco Lucarelli; G Zelano; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Different expression of the myotonin protein kinase gene in discrete areas of human brain.
Biochemical and biophysical research communications 1995;216(2):489-94.
1995: Bruno Dallapiccola; Rita Mingarelli
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.
Journal of medical genetics 1995;32(10):816-8.
1995: A Mari; Francesca Amati; Rita Mingarelli; A Giannotti; G Sebastio; V Colloridi; Giuseppe Novelli; Bruno Dallapiccola
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
Human genetics 1995;96(4):444-8.
1995: Massimo Gennarelli; Marco Lucarelli; Francesca Capon; Antonio Pizzuti; Luciano Merlini; Corrado Angelini; Giuseppe Novelli; Bruno Dallapiccola
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
Biochemical and biophysical research communications 1995;213(1):342-8.
1995: Francesca Amati; A Mari; Rita Mingarelli; Massimo Gennarelli; Maria Cristina Digilio; A Giannotti; B Marino; Giuseppe Novelli; Bruno Dallapiccola
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.
American journal of medical genetics 1995;57(3):483-8.
1995: Francesca Amati; A Mari; Maria Cristina Digilio; Rita Mingarelli; B Marino; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Human genetics 1995;95(5):479-82.
1995: I Delaroche; M Sabani; Giuseppe Calabrese; Rita Mingarelli; Giandomenico Palka; Bruno Dallapiccola
Fetal translocation between chromosomes 2, 18, and 21 resolved by fish.
Prenatal diagnosis 1995;15(3):278-81.
1995: Giuseppe Novelli; Massimo Gennarelli; E Menegazzo; Corrado Angelini; Bruno Dallapiccola
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.
Neuromuscular disorders : NMD 1995;5(2):157-9.
1995: Federica Sangiuolo; P Maceratesi; A Mesoraca; Annalisa Botta; A Cavicchini; Giuseppe Novelli; Bruno Dallapiccola
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.
International journal of clinical & laboratory research 1995;25(3):142-5.
1995: Salvatore Melchionda; Maria Cristina Digilio; Rita Mingarelli; Giuseppe Novelli; Peter J Scambler; B Marino; Bruno Dallapiccola
Transposition of the great arteries associated with deletion of chromosome 22q11.
The American journal of cardiology 1995;75(1):95-8.
1995: Francesca Capon; S Lo Cicero; C Levato; Giuseppe Novelli; Bruno Dallapiccola
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1995;15(1):93-4.
1995: Bruno Dallapiccola; R Mingarelli; Giuseppe Novelli
The link between cytogenetics and mendelism.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1995;49(2):83-93.
1994: Massimo Gennarelli; Bruno Dallapiccola; Montserrat Baiget; Lluis Martorell; Giuseppe Novelli
Meiotic drive at the myotonic dystrophy locus.
Journal of medical genetics 1994;31(12):980.
1994: G Scirè; Bruno Dallapiccola; Paola Iannetti; F Bonaiuto; Cinzia Galasso; Rita Mingarelli; Brunetto Boscherini
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.
American journal of medical genetics 1994;52(4):478-82.
1994: S Lo Cicero; Francesca Capon; Salvatore Melchionda; Massimo Gennarelli; Giuseppe Novelli; Bruno Dallapiccola
First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.
Prenatal diagnosis 1994;14(6):459-62.
1994: I Mastrogiacomo; E Pagani; Giuseppe Novelli; Corrado Angelini; Massimo Gennarelli; E Menegazzo; G Bonanni; Bruno Dallapiccola
Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.
Journal of endocrinological investigation 1994;17(5):381-3.
1994: M P Iampieri; Rita Mingarelli; E Le Guern; Giuseppe Novelli; Bruno Dallapiccola
Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.
Prenatal diagnosis 1994;14(4):285-9.
1994: Bruno Dallapiccola; Rita Mingarelli; G Obregon
Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.
Clinical genetics 1994;45(4):200-2.
1994: Tetsuo Ashizawa; M Anvret; M Baiget; J M Barceló; H Brunner; A M Cobo; Bruno Dallapiccola; R G Fenwick; U Grandell; H Harley
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.
American journal of human genetics 1994;54(3):414-23.
1994: Bruno Dallapiccola; R Mingarelli; Maria Cristina Digilio; B Marino; G Novelli
[Genetics of congenital heart diseases].
Giornale italiano di cardiologia 1994;24(2):155-66.
1994: Giuseppe Novelli; Gabriella Spedini; Giovanni Destro-Bisol; Massimo Gennarelli; C Fattorini; Bruno Dallapiccola
North Eurasian origin of the myotonic dystrophy mutation.
Human mutation 1994;4(1):79-81.
1994: Federica Sangiuolo; L De Santis; A Cavicchini; U Angeloni; C Romanini; Giuseppe Novelli; Bruno Dallapiccola
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay.
International journal of clinical & laboratory research 1994;24(4):223-6.
1994: Giuseppe Novelli; Federica Sangiuolo; P Maceratesi; Bruno Dallapiccola
The up-to-date molecular genetics of cystic fibrosis.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(10):455-63.
1993: Francesca Capon; S L Cicero; Giuseppe Novelli; Bruno Dallapiccola
PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
PCR methods and applications 1993;3(3):211-2.
1993: Antonio Pizzuti; Massimo Gennarelli; Giuseppe Novelli; A Colosimo; S Lo Cicero; CT Caskey; Bruno Dallapiccola
Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X.
Biochemical and biophysical research communications 1993;197(1):154-62.
1993: Bruno Dallapiccola; Paola Mandich; Emilia Bellone; A Selicorni; V Mokin; Franco Ajmar; Giuseppe Novelli
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
American journal of medical genetics 1993;47(6):921-4.
1993: Marie-Pierre Audrézet; Giuseppe Novelli; Bernard Mercier; Federica Sangiuolo; P Maceratesi; Claude Férec; Bruno Dallapiccola
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity 1993;43(5):295-300.
1993: Giuseppe Novelli; Massimo Gennarelli; Federica Sangiuolo; L D'Agruma; S Lo Cicero; Salvatore Melchionda; Bruno Dallapiccola
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene.
Cell biochemistry and function 1993;11(3):187-91.
1993: Francesca Capon; Salvatore Melchionda; Massimo Gennarelli; S Lo Cicero; M Giacanelli; Giuseppe Novelli; Bruno Dallapiccola
A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
Molecular and cellular probes 1993;7(3):221-6.
1993: Domenico Del Principe; M P Iampieri; Daniela Germani; A Menichelli; Giuseppe Novelli; Bruno Dallapiccola
Detection by capillary electrophoresis of restriction fragment length polymorphism. Analysis of a polymerase chain reaction-amplified product of the DXS 164 locus in the dystrophin gene.
Journal of chromatography 1993;638(2):277-81.
1993: Giuseppe Novelli; Massimo Gennarelli; G Zelano; Antonio Pizzuti; C Fattorini; C T Caskey; Bruno Dallapiccola
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
Biochemistry and molecular biology international 1993;29(2):291-7.
1993: L D'Agruma; A Colosimo; U Angeloni; Giuseppe Novelli; Bruno Dallapiccola
Plasmid DNA and low-frequency electromagnetic fields.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(2-3):101-5.
1993: Giuseppe Novelli; Massimo Gennarelli; C Fattorini; C Abbruzzese; Bruno Dallapiccola
The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(8):321-30.
1993: Federica Sangiuolo; S Lo Cicero; P Maceratesi; S Quattrucci; Giuseppe Novelli; Bruno Dallapiccola
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
Human mutation 1993;2(5):422-4.
1992: Giuseppe Novelli; Massimo Gennarelli; G Zelano; Federica Sangiuolo; S Lo Cicero; F Samson; Bruno Dallapiccola
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.
Cell biochemistry and function 1992;10(4):251-6.
1992: Massimo Gennarelli; Salvatore Melchionda; C Fattorini; Giuseppe Novelli; Bruno Dallapiccola
Genotyping of spinal muscular atrophy families with linked DNA probes.
Clinical genetics 1992;42(6):317-9.
1992: Bruno Dallapiccola; A Giannotti; B Marino; C Digilio; G Obregon
Familial aplasia cutis congenita and coarctation of the aorta.
American journal of medical genetics 1992;43(4):762-3.
1992: N Pasetto; Francesco Sesti; L De Santis; Emilio Piccione; Giuseppe Novelli; Bruno Dallapiccola
The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction.
Gynecologic oncology 1992;46(1):33-6.
1992: Giuseppe Novelli; Massimo Gennarelli; M Rocchi; Bruno Dallapiccola
Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.
Human genetics 1992;88(6):697-8.
1992: Bruno Dallapiccola; L Zelante; Rita Mingarelli; M Pellegrino; V Bertozzi
Baller-Gerold syndrome: case report and clinical and radiological review.
American journal of medical genetics 1992;42(3):365-8.
1992: Giuseppe Novelli; Massimo Gennarelli; L De Santis; P Angeloni; Bruno Dallapiccola
Inosine-containing primers in human papillomavirus detection by polymerase chain reaction.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1992;46(4):167-9.
1991: Massimo Gennarelli; Giuseppe Novelli; Anna Maria Cobo; M Baiget; Bruno Dallapiccola
3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.
Human genetics 1991;87(6):654-6.
1991: B Porfirio; D Smeets; L Beckers; Daniela Caporossi; Bruna Tedeschi; Patrizia Vernole; H Joenje; B Nicoletti; Bruno Dallapiccola
Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-dichloro-platinum (II) in Fanconi anemia lymphocyte cultures.
Human genetics 1991;86(3):256-60.
1991: Giuseppe Novelli; Massimo Gennarelli; L Potenza; P Angeloni; Bruno Dallapiccola
Study of the effects on DNA of electromagnetic fields using clamped homogeneous electric field gel electrophoresis.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1991;45(10):451-4.
1991: Rita Mingarelli; G Valorani; L Zelante; Bruno Dallapiccola
Ring chromosome 8 associated with microcephaly.
Annales de génétique 1991;34(2):90-2.
1990: Giuseppe Novelli; Paolo Gasparini; A Savoia; Pier Franco Pignatti; Federica Sangiuolo; Bruno Dallapiccola
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
Human genetics 1990;85(4):420-1.
1990: Giuseppe Novelli; Federica Sangiuolo; Bruno Dallapiccola; Paolo Gasparini; A Savoia; Pier Franco Pignatti; E Fernandez; J Benitez; Teresa Casals; Virginia Nunes
Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.
Prenatal diagnosis 1990;10(6):413-4.
1989: Xavier Estivill; Paolo Gasparini; Giuseppe Novelli; Teresa Casals; Virginia Nunes; P Gallano; A Savoia; A Ruzzo; Bruno Dallapiccola; Pier Franco Pignatti
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Bruno Dallapiccola; G Ferranti; D Altissimi; F Colloridi; R Paesano
First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.
Prenatal diagnosis 1989;9(8):555-8.
1989: B Porfirio; G Ambroso; G Giannella; G Isacchi; Bruno Dallapiccola
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine.
Human genetics 1989;83(1):49-51.
1989: Bruno Dallapiccola; A Giannotti; A Lembo; L Saguì
Autosomal recessive form of whistling face syndrome in sibs.
American journal of medical genetics 1989;33(4):542-4.
1989: Paolo Gasparini; Giuseppe Novelli; A Savoia; Bruno Dallapiccola; Pier Franco Pignatti
First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases.
Prenatal diagnosis 1989;9(5):349-55.
1989: Bruno Dallapiccola; B Marino; A Giannotti; G Valorani
Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.
Annales de génétique 1989;32(2):92-6.
1987: B Porfirio; Bruno Dallapiccola; L Terrenato
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites.
Annals of human genetics 1987;51(Pt 4):329-36.
1986: A Farulla; E Monaco; C R Corrao; F Cardoni; S Simonazzi; Bruno Dallapiccola
[Fanconi's anemia: in vitro tests for the individualization of heterozygotes].
Giornale italiano di medicina del lavoro 1986;8(3-4):133-8.