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Bruno Dallapiccola
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106
Novelli, Giuseppe
59
Digilio, Maria Cristina
57
Mingarelli, Rita
46
Pizzuti, Antonio
41
Sarkozy, Anna
41
Marino, Bruno
39
Valente, Enza Maria
32
Brancati, Francesco
30
Gennarelli, Massimo
30
De Luca, Alessandro
27
Sangiuolo, Federica
24
Capon, Francesca
22
Torrente, Isabella
18
Amati, Francesca
16
Guida, Valentina
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All Publications
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2009: Dentici Maria Lisa; Brancati Francesco; Mingarelli Rita; Dallapiccola Bruno
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.
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2009: Hoque Mohammad Obaidul; Prencipe Maria; Poeta Maria Luana; Barbano Raffaela; Valori Vanna Maria; Copetti Massimiliano; Gallo Antonietta Pia; Brait Mariana; Maiello Evaristo; Apicella Adolfo; Rossiello Raffaele; Zito Francesco; Stefania Tommasi; Paradiso Angelo; Carella Massimo; Dallapiccola Bruno; Murgo Roberto; Carosi Illuminato; Bisceglia Michele; Fazio Vito Michele; Sidransky David; Parrella Paola
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.
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2009: Salpietro Carmelo Damiano; Briuglia Silvana; Cutrupi Maria Concetta; Gallizzi Romina; Rigoli Luciana; Dallapiccola Bruno
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.
American journal of medical genetics. Part A 2009;149A(10):2270-3.
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2009: Douzgou Sofia; Mingarelli Rita; Dallapiccola Bruno
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.
Clinical dysmorphology 2009;18(4):205-8.
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2009: Pilotto Alberto; Franceschi M; D'Onofrio G; Bizzarro A; Mangialasche F; Cascavilla L; Paris F; Matera M G; Pilotto Andrea; Daniele A; Mecocci P; Masullo C; Dallapiccola B; Seripa D
Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease.
Neurology 2009;73(10):761-7.
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2009: Chessa Luciana; Piane Maria; Magliozzi Monia; Torrente Isabella; Savio Camilla; Lulli Patrizia; De Luca Alessandro; Dallapiccola Bruno
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Annals of human genetics 2009;73(Pt 5):532-9.
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2009: Bielas Stephanie L; Silhavy Jennifer L; Brancati Francesco; Kisseleva Marina V; Al-Gazali Lihadh; Sztriha Laszlo; Bayoumi Riad A; Zaki Maha S; Abdel-Aleem Alice; Rosti Rasim Ozgur; Kayserili Hulya; Swistun Dominika; Scott Lesley C; Bertini Enrico; Boltshauser Eugen; Fazzi Elisa; Travaglini Lorena; Field Seth J; Gayral Stephanie; Jacoby Monique; Schurmans Stephane; Dallapiccola Bruno; Majerus Philip W; Valente Enza Maria; Gleeson Joseph G
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nature genetics 2009;41(9):1032-6.
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2009: Bonetti Monica; Ferraris Alessandro; Petracca Martina; Bentivoglio Anna Rita; Dallapiccola Bruno; Valente Enza Maria
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.
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2009: Digilio Maria Cristina; Bernardini Laura; Capalbo Anna; Capolino Rossella; Gagliardi Maria Giulia; Marino Bruno; Novelli Antonio; Dallapiccola Bruno
16p subtelomeric duplication: a clinically recognizable syndrome.
European journal of human genetics : EJHG 2009;17(9):1135-40.
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2009: Pilotto Alberto; Matera Maria G; Ferrucci Luigi; Sancarlo Daniele; Leandro Gioacchino; D'Onofrio Grazia; Seripa Davide; Addante Filomena; Franceschi Marilisa; Dallapiccola Bruno
Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients.
Rejuvenation research 2009;12(4):239-47.
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2009: Digilio Maria Cristina; Bernardini Laura; Mingarelli Rita; Capolino Rossella; Capalbo Anna; Giuffrida Maria Grazia; Versacci Paolo; Novelli Antonio; Dallapiccola Bruno
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.
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2009: Pilotto Alberto; Addante Filomena; Ferrucci Luigi; Leandro Gioacchino; D'Onofrio Grazia; Corritore Michele; Niro Valeria; Scarcelli Carlo; Dallapiccola Bruno; Franceschi Marilisa
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.
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2009: Bernardini L; Sinibaldi L; Capalbo A; Bottillo I; Mancuso B; Torres B; Novelli A; Digilio M C; Dallapiccola B
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
Clinical genetics 2009;76(1):117-9.
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2009: Esposito Giorgia; Grutter Giorgia; Drago Fabrizio; Costa Mauro W; De Santis Antonella; Bosco Giovanna; Marino Bruno; Bellacchio Emanuele; Lepri Francesca; Harvey Richard P; Sarkozy Anna; Dallapiccola Bruno
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.
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2009: Seripa Davide; Panza Francesco; Franceschi Marilisa; D'Onofrio Grazia; Solfrizzi Vincenzo; Dallapiccola Bruno; Pilotto Alberto
Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease.
Ageing research reviews 2009;8(3):214-36.
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2009: Dallapiccola Bruno; Digilio Maria Cristina; Zatterale Adriana; Galeone Rita; Capolino Rossella; Mingarelli Rita
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.
Clinical dysmorphology 2009;18(3):135-8.
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2009: Dentici Maria Lisa; Sarkozy Anna; Pantaleoni Francesca; Carta Claudio; Lepri Francesca; Ferese Rosangela; Cordeddu Viviana; Martinelli Simone; Briuglia Silvana; Digilio Maria Cristina; Zampino Giuseppe; Tartaglia Marco; Dallapiccola Bruno
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.
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2009: Sarkozy Anna; Carta Claudio; Moretti Sonia; Zampino Giuseppe; Digilio Maria C; Pantaleoni Francesca; Scioletti Anna Paola; Esposito Giorgia; Cordeddu Viviana; Lepri Francesca; Petrangeli Valentina; Dentici Maria L; Mancini Grazia M S; Selicorni Angelo; Rossi Cesare; Mazzanti Laura; Marino Bruno; Ferrero Giovanni B; Silengo Margherita Cirillo; Memo Luigi; Stanzial Franco; Faravelli Francesca; Stuppia Liborio; Puxeddu Efisio; Gelb Bruce D; Dallapiccola Bruno; Tartaglia Marco
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Human mutation 2009;30(4):695-702.
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2009: Bottillo Irene; Ahlquist Terje; Brekke Helge; Danielsen Stine A; van den Berg Eva; Mertens Fredrik; Lothe Ragnhild A; Dallapiccola Bruno
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.
The Journal of pathology 2009;217(5):693-701.
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2009: Dallapiccola Bruno; Bernardini Laura; Novelli Antonio; Mingarelli Rita
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.
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2009: Marongiu Roberta; Spencer Brian; Crews Leslie; Adame Anthony; Patrick Christina; Trejo Margarita; Dallapiccola Bruno; Valente Enza Maria; Masliah Eliezer
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.
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2009: Prontera Paolo; Bernardini Laura; Stangoni Gabriela; Capalbo Anna; Rogaia Daniela; Ardisia Carmela; Novelli Antonio; Dallapiccola Bruno; Donti Emilio
2q31.2q32.3 deletion syndrome: report of an adult patient.
American journal of medical genetics. Part A 2009;149A(4):706-12.
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2009: Brancati Francesco; Iannicelli Miriam; Travaglini Lorena; Mazzotta Annalisa; Bertini Enrico; Boltshauser Eugen; D'Arrigo Stefano; Emma Francesco; Fazzi Elisa; Gallizzi Romina; Gentile Mattia; Loncarevic Damir; Mejaski-Bosnjak Vlatka; Pantaleoni Chiara; Rigoli Luciana; Salpietro Carmelo D; Signorini Sabrina; Stringini Gilda Rita; Verloes Alain; Zabloka Dominika; Dallapiccola Bruno; Gleeson Joseph G; Valente Enza Maria;
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.
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2009: Bertolino Alessandro; Fazio Leonardo; Di Giorgio Annabella; Blasi Giuseppe; Romano Raffaella; Taurisano Paolo; Caforio Grazia; Sinibaldi Lorenzo; Ursini Gianluca; Popolizio Teresa; Tirotta Emanuele; Papp Audrey; Dallapiccola Bruno; Borrelli Emiliana; Sadee Wolfgang
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.
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2009: Prudente Sabrina; Scarpelli Daniela; Chandalia Manisha; Zhang Yuan-Yuan; Morini Eleonora; Del Guerra Silvia; Perticone Francesco; Li Rong; Powers Christine; Andreozzi Francesco; Marchetti Piero; Dallapiccola Bruno; Abate Nicola; Doria Alessandro; Sesti Giorgio; Trischitta Vincenzo
The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes.
The Journal of clinical endocrinology and metabolism 2009;94(1):190-6.
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2009: Bernardini Laura; Gimelli Stefania; Gervasini Cristina; Carella Massimo; Baban Anwar; Frontino Giada; Barbano Giancarlo; Divizia Maria Teresa; Fedele Luigi; Novelli Antonio; Béna Frédérique; Lalatta Faustina; Miozzo Monica; Dallapiccola Bruno
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.
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2009: Masotti Andrea; Caputo Viviana; Da Sacco Letizia; Pizzuti Antonio; Dallapiccola Bruno; Bottazzo Gian Franco
Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.
Journal of biomedicine & biotechnology 2009;2009():659028.
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2009: Pilotto Alberto; Sancarlo Daniele; Panza Francesco; Paris Francesco; D'Onofrio Grazia; Cascavilla Leandro; Addante Filomena; Seripa Davide; Solfrizzi Vincenzo; Dallapiccola Bruno; Franceschi Marilisa; Ferrucci Luigi
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.
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2009: Parrella Paola; la Torre Antonella; Copetti Massimiliano; Valori Vanna M; Barbano Raffaela; Notarangelo Angelo; Bisceglia Michele; Gallo Antonietta Pia; Balsamo Teresa; Poeta Maria Luana; Carella Massimo; Catapano Domenico; Parisi Salvatore; Dallapiccola Bruno; Maiello Evaristo; D'Angelo Vincenzo; Fazio Vito Michele
High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas.
Journal of biomedicine & biotechnology 2009;2009():531692.
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2008: Valente Enza Maria; Ferraris Alessandro; Dallapiccola Bruno
Genetic testing for paediatric neurological disorders.
Lancet neurology 2008;7(12):1113-26.
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2008: Hennies Hans Christian; Kornak Uwe; Zhang Haikuo; Egerer Johannes; Zhang Xin; Seifert Wenke; Kühnisch Jirko; Budde Birgit; Nätebus Marc; Brancati Francesco; Wilcox William R; Müller Dietmar; Kaplan Paige B; Rajab Anna; Zampino Giuseppe; Fodale Valentina; Dallapiccola Bruno; Newman William; Metcalfe Kay; Clayton-Smith Jill; Tassabehji May; Steinmann Beat; Barr Francis A; Nürnberg Peter; Wieacker Peter; Mundlos Stefan
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nature genetics 2008;40(12):1410-2.
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2008: Carbone Angelo; Bernardini Laura; Valenzano Francesco; Bottillo Irene; De Simone Clara; Capizzi Rodolfo; Capalbo Anna; Romano Francesca; Novelli Antonio; Dallapiccola Bruno; Amerio Pierluigi
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.
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2008: Mascheroni Elisabetta; Digilio M Cristina; Cortis Elisabetta; Devito Rita; Sarkozy Anna; Capolino Rossella; Dallapiccola Bruno; Ugazio Alberto G
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.
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2008: Digilio M C; Marino Bruno; Dallapiccola Bruno
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.
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2008: Wilson Heather L; Crolla John A; Walker Dena; Artifoni Lina; Dallapiccola Bruno; Takano Takako; Vasudevan Pradeep; Huang Shuwen; Maloney Vivienne; Yobb Twila; Quarrell Oliver; McDermid Heather E
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.
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2008: Limongelli Giuseppe; Pacileo Giuseppe; Digilio Maria Cristina; Calabro' Paolo; Di Salvo Giovanni; Rea Alessandra; Miele Tiziana; Frigiola Alessandro; Sarkozy Anna; Dallapiccola Bruno; Marino Bruno; Calabro' Raffaele
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.
International journal of cardiology 2008;130(3):e108-10.
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2008: Bossa Fabrizio; Latiano Anna; Rossi Luigia; Magnani Mauro; Palmieri Orazio; Dallapiccola Bruno; Serafini Sonja; Damonte Gianluca; De Santo Ermelinda; Andriulli Angelo; Annese Vito
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.
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2008: Douzgou Sofia; Lehmann Katarina; Mingarelli Rita; Mundlos Stefan; Dallapiccola Bruno
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
American journal of medical genetics. Part A 2008;146A(16):2116-21.
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2008: Brancati F; Travaglini L; Zablocka D; Boltshauser E; Accorsi P; Montagna G; Silhavy J L; Barrano G; Bertini E; Emma F; Rigoli L; Dallapiccola B; Gleeson J G; Valente E M
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Clinical genetics 2008;74(2):164-70.
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2008: Bertolino Alessandro; Di Giorgio Annabella; Blasi Giuseppe; Sambataro Fabio; Caforio Grazia; Sinibaldi Lorenzo; Latorre Valeria; Rampino Antonio; Taurisano Paolo; Fazio Leonardo; Romano Raffaella; Douzgou Sofia; Popolizio Teresa; Kolachana Bhaskar; Nardini Marcello; Weinberger Daniel R; Dallapiccola Bruno
Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks.
Biological psychiatry 2008;64(3):226-34.
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2008: Ahlquist Terje; Bottillo Irene; Danielsen Stine A; Meling Gunn I; Rognum Torleiv O; Lind Guro E; Dallapiccola Bruno; Lothe Ragnhild A
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.
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2008: Digilio M Cristina; Calzolari Flaminia; Capolino Rossella; Toscano Alessandra; Sarkozy Anna; de Zorzi Andrea; Dallapiccola Bruno; Marino Bruno
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
American journal of medical genetics. Part A 2008;146A(14):1815-9.
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2008: Bedeschi Maria Francesca; Novelli Antonio; Bernardini Laura; Parazzini Cecilia; Bianchi Vera; Torres Barbara; Natacci Federica; Giuffrida Maria Grazia; Ficarazzi Paola; Dallapiccola Bruno; Lalatta Faustina
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.
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2008: Brancati Francesco; Garaci Francesco Giuseppe; Mingarelli Rita; Dallapiccola Bruno
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.
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2008: Morini Eleonora; Tassi Vittorio; Capponi Daria; Ludovico Ornella; Dallapiccola Bruno; Trischitta Vincenzo; Prudente Sabrina
Interaction between PPARgamma2 variants and gender on the modulation of body weight.
Obesity (Silver Spring, Md.) 2008;16(6):1467-70.
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2008: Digilio M Cristina; Sarkozy Anna; Capolino Rossella; Chiarini Testa M Beatrice; Esposito Giorgia; de Zorzi Andrea; Cutrera Renato; Marino Bruno; Dallapiccola Bruno
Costello syndrome: clinical diagnosis in the first year of life.
European journal of pediatrics 2008;167(6):621-8.
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2008: Marongiu Roberta; Ferraris Alessandro; Ialongo Tàmara; Michiorri Silvia; Soleti Francesco; Ferrari Francesca; Elia Antonio E; Ghezzi Daniele; Albanese Alberto; Altavista Maria Concetta; Antonini Angelo; Barone Paolo; Brusa Livia; Cortelli Pietro; Martinelli Paolo; Pellecchia Maria Teresa; Pezzoli Gianni; Scaglione Cesa; Stanzione Paolo; Tinazzi Michele; Zecchinelli Anna; Zeviani Massimo; Cassetta Emanuele; Garavaglia Barbara; Dallapiccola Bruno; Bentivoglio Anna Rita; Valente Enza Maria;
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Human mutation 2008;29(4):565.
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2008: Gelmetti Vania; Ferraris Alessandro; Brusa Livia; Romano Francesca; Lombardi Federica; Barzaghi Chiara; Stanzione Paolo; Garavaglia Barbara; Dallapiccola Bruno; Valente Enza Maria
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.
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2008: Limongelli Giuseppe; Sarkozy Anna; Pacileo Giuseppe; Calabrò Paolo; Digilio Maria Cristina; Maddaloni Valeria; Gagliardi Giulia; Di Salvo Giovanni; Iacomino Maria; Marino Bruno; Dallapiccola Bruno; Calabrò Raffaele
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.
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2008: Torlontano Massimo; Durante Cosimo; Torrente Isabella; Crocetti Umberto; Augello Giovanni; Ronga Giuseppe; Montesano Teresa; Travascio Laura; Verrienti Antonella; Bruno Rocco; Santini Stefano; D'Arcangelo Palmina; Dallapiccola Bruno; Filetti Sebastiano; Trischitta Vincenzo
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.
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2008: Battaglia Agatino; Hoyme H Eugene; Dallapiccola Bruno; Zackai Elaine; Hudgins Louanne; McDonald-McGinn Donna; Bahi-Buisson Nadia; Romano Corrado; Williams Charles A; Brailey Lisa L; Zuberi Sameer M; Carey John C
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.
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2008: Rauch Anita; Thiel Christian T; Schindler Detlev; Wick Ursula; Crow Yanick J; Ekici Arif B; van Essen Anthonie J; Goecke Timm O; Al-Gazali Lihadh; Chrzanowska Krystyna H; Zweier Christiane; Brunner Han G; Becker Kristin; Curry Cynthia J; Dallapiccola Bruno; Devriendt Koenraad; Dörfler Arnd; Kinning Esther; Megarbane André; Meinecke Peter; Semple Robert K; Spranger Stephanie; Toutain Annick; Trembath Richard C; Voss Egbert; Wilson Louise; Hennekam Raoul; de Zegher Francis; Dörr Helmuth-Günther; Reis André
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
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2008: Pilotto Alberto; Ferrucci Luigi; Franceschi Marilisa; D'Ambrosio Luigi P; Scarcelli Carlo; Cascavilla Leandro; Paris Francesco; Placentino Giuliana; Seripa Davide; Dallapiccola Bruno; Leandro Gioacchino
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.
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2008: Valente Enza Maria; Brancati Francesco; Dallapiccola Bruno
Genotypes and phenotypes of Joubert syndrome and related disorders.
European journal of medical genetics 2008;51(1):1-23.
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2008: Bernardini Laura; Palka Chiara; Ceccarini Caterina; Capalbo Anna; Bottillo Irene; Mingarelli Rita; Novelli Antonio; Dallapiccola Bruno
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.
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2008: Digilio M Cristina; Capolino Rossella; Dallapiccola Bruno
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.
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2008: Digilio M Cristina; Marino Bruno; Dallapiccola Bruno
Deletion 22q11 and isolated congenital heart disease.
International journal of cardiology 2008;123(3):364-5.
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2008: Ciccaglione Anna Rita; Marcantonio Cinzia; Tritarelli Elena; Tataseo Paola; Ferraris Alessandro; Bruni Roberto; Dallapiccola Bruno; Gerosolimo Germano; Costantino Angela; Rapicetta Maria
Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones.
BMC genomics 2008;9():309.
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2008: Sarkozy Anna; Digilio Maria Cristina; Dallapiccola Bruno
Leopard syndrome.
Orphanet journal of rare diseases 2008;3():13.
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2008: Seripa Davide; Matera Maria Giovanna; Franceschi Marilisa; Bizzarro Alessandra; Paris Francesco; Cascavilla Leandro; Rinaldi Monica; Panza Francesco; Solfrizzi Vincenzo; Daniele Antonio; Masullo Carlo; Dallapiccola Bruno; Pilotto Alberto
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.
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2007: Fiorito Mirella; Torrente Isabella; De Cosmo Salvatore; Guida Valentina; Colosimo Alessia; Prudente Sabrina; Flex Elisabetta; Menghini Rossella; Miccoli Roberto; Penno Giuseppe; Pellegrini Fabio; Tassi Vittorio; Federici Massimo; Trischitta Vincenzo; Dallapiccola Bruno
Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.
Obesity (Silver Spring, Md.) 2007;15(12):2889-95.
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2007: De Luca A; Bottillo I; Dasdia M C; Morella A; Lanari V; Bernardini L; Divona L; Giustini S; Sinibaldi L; Novelli A; Torrente I; Schirinzi A; Dallapiccola B
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
Journal of medical genetics 2007;44(12):800-8.
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2007: Bernardini Laura; Castori Marco; Capalbo Anna; Mokini Vahe; Mingarelli Rita; Simi Paolo; Bertuccelli Alice; Novelli Antonio; Dallapiccola Bruno
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
American journal of medical genetics. Part A 2007;143A(24):2937-43.
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2007: Scarciolla Oronzo; Brancati Francesco; Valente Enza Maria; Ferraris Alessandro; De Angelis Maria Vittoria; Valbonesi Stefano; Garavaglia Barbara; Uncini Antonino; Palka Giandomenico; Stuppia Liborio; Dallapiccola Bruno
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.
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2007: De Cosmo Salvatore; Prudente Sabrina; Andreozzi Francesco; Morini Eleonora; Rauseo Anna; Scarpelli Daniela; Zhang Yuan-Yuan; Xu Rui; Perticone Francesco; Dallapiccola Bruno; Sesti Giorgio; Doria Alessandro; Trischitta Vincenzo
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.
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2007: Castori Marco; Palka Chiara; Brancati Francesco; Mingarelli Rita; Dallapiccola Bruno
Reticulate vascular lesions and a large head.
Pediatric dermatology 2007;24(5):555-6.
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2007: Bertolino Alessandro; Caforio Grazia; Blasi Giuseppe; Rampino Antonio; Nardini Marcello; Weinberger Daniel R; Dallapiccola Bruno; Sinibaldi Lorenzo; Douzgou Sophia
COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia.
Schizophrenia research 2007;95(1-3):253-5.
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2007: Scintu Marina; Vitale Rita; Prencipe Maria; Gallo Antonietta Pia; Bonghi Loriana; Valori Vanna Maria; Maiello Evaristo; Rinaldi Monica; Signori Emanuela; Rabitti Carla; Carella Massimo; Dallapiccola Bruno; Altomare Vittorio; Fazio Vito M; Parrella Paola
Genomic instability and increased expression of BUB1B and MAD2L1 genes in ductal breast carcinoma.
Cancer letters 2007;254(2):298-307.
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2007: Limongelli Giuseppe; Pacileo Giuseppe; Marino Bruno; Digilio Maria Cristina; Sarkozy Anna; Elliott Perry; Versacci Paolo; Calabro Paolo; De Zorzi Andrea; Di Salvo Giovanni; Syrris Petros; Patton Michael; McKenna William J; Dallapiccola Bruno; Calabro Raffaele
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
The American journal of cardiology 2007;100(4):736-41.
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2007: Pilotto Alberto; Seripa Davide; Franceschi Marilisa; Scarcelli Carlo; Colaizzo Donatella; Grandone Elvira; Niro Valeria; Andriulli Angelo; Leandro Gioacchino; Di Mario Francesco; Dallapiccola Bruno
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms.
Gastroenterology 2007;133(2):465-71.
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2007: Prandini Paola; Deutsch Samuel; Lyle Robert; Gagnebin Maryline; Delucinge Vivier Celine; Delorenzi Mauro; Gehrig Corinne; Descombes Patrick; Sherman Stephanie; Dagna Bricarelli Franca; Baldo Chiara; Novelli Antonio; Dallapiccola Bruno; Antonarakis Stylianos E
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
American journal of human genetics 2007;81(2):252-63.
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2007: Pandit Bhaswati; Sarkozy Anna; Pennacchio Len A; Carta Claudio; Oishi Kimihiko; Martinelli Simone; Pogna Edgar A; Schackwitz Wendy; Ustaszewska Anna; Landstrom Andrew; Bos J Martijn; Ommen Steve R; Esposito Giorgia; Lepri Francesca; Faul Christian; Mundel Peter; López Siguero Juan P; Tenconi Romano; Selicorni Angelo; Rossi Cesare; Mazzanti Laura; Torrente Isabella; Marino Bruno; Digilio Maria C; Zampino Giuseppe; Ackerman Michael J; Dallapiccola Bruno; Tartaglia Marco; Gelb Bruce D
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nature genetics 2007;39(8):1007-12.
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2007: Castori Marco; Silvestri Evelina; Nunnari Josè; Grammatico Paola; Dallapiccola Bruno
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma.
American journal of medical genetics. Part A 2007;143A(12):1391-3.
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2007: Sarkozy Anna; Schirinzi Annalisa; Lepri Francesca; Bottillo Irene; De Luca Alessandro; Pizzuti Antonio; Tartaglia Marco; Digilio Maria Cristina; Dallapiccola Bruno
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
American journal of medical genetics. Part A 2007;143A(9):1009-11.
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2007: Prudente Sabrina; Flex Elisabetta; Morini Eleonora; Turchi Federica; Capponi Daria; De Cosmo Salvatore; Tassi Vittorio; Guida Valentina; Avogaro Angelo; Folli Franco; Maiani Francesca; Frittitta Lucia; Dallapiccola Bruno; Trischitta Vincenzo
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.
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2007: Signori Emanuela; Massi Emanuela; Matera Maria Giovanna; Poscente Monica; Gravina Carolina; Falcone Gianluca; Rosa Michele Attilio; Rinaldi Monica; Wuyts Wim; Seripa Davide; Dallapiccola Bruno; Fazio Vito Michele
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.
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2007: Bernardini Laura; Capalbo Anna; D'Avanzo Maria Gabriella; Torrente Isabella; Grammatico Paola; Dell'Edera Domenico; Cavalcanti Denise Pontes; Novelli Antonio; Dallapiccola Bruno
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
European journal of medical genetics 2007;50(2):94-102.
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2007: Zampino Giuseppe; Pantaleoni Francesca; Carta Claudio; Cobellis Gilda; Vasta Isabella; Neri Cinzia; Pogna Edgar A; De Feo Emma; Delogu Angelica; Sarkozy Anna; Atzeri Francesca; Selicorni Angelo; Rauen Katherine A; Cytrynbaum Cheryl S; Weksberg Rosanna; Dallapiccola Bruno; Ballabio Andrea; Gelb Bruce D; Neri Giovanni; Tartaglia Marco
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Human mutation 2007;28(3):265-72.
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2007: Ceccarini Caterina; Sinibaldi Lorenzo; Bernardini Laura; De Simone Roberto; Mingarelli Rita; Novelli Antonio; Dallapiccola Bruno
Duplication 18q21.31-q22.2.
American journal of medical genetics. Part A 2007;143(4):343-8.
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2007: Castori Marco; Douzgou Sofia; Silvestri Evelina; Encha-Razavi Férechté; Dallapiccola Bruno
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.
American journal of medical genetics. Part A 2007;143(3):277-84.
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2007: Calcagni Giulio; Digilio M Cristina; Sarkozy Anna; Dallapiccola Bruno; Marino Bruno
Familial recurrence of congenital heart disease: an overview and review of the literature.
European journal of pediatrics 2007;166(2):111-6.
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2007: Piacentini Gerardo; Digilio M Cristina; Sarkozy Anna; Placidi Silvia; Dallapiccola Bruno; Marino Bruno
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.
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2007: Colosimo Alessia; Guida Valentina; Antonucci Ivana; Bonfini Tiziana; Stuppia Liborio; Dallapiccola Bruno
Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells.
Haematologica 2007;92(1):129-30.
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2007: Prudente Sabrina; Chandalia Manisha; Morini Eleonora; Baratta Roberto; Dallapiccola Bruno; Abate Nicola; Frittitta Lucia; Trischitta Vincenzo
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.
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2007: Castori Marco; Brancati Francesco; Mingarelli Rita; Mundlos Stefan; Dallapiccola Bruno
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.
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2007: Marongiu Roberta; Brancati Francesco; Antonini Angelo; Ialongo Tamara; Ceccarini Caterina; Scarciolla Oronzo; Capalbo Anna; Benti Riccardo; Pezzoli Gianni; Dallapiccola Bruno; Goldwurm Stefano; Valente Enza Maria
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
Human mutation 2007;28(1):98.
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2007: Tartaglia Marco; Pennacchio Len A; Zhao Chen; Yadav Kamlesh K; Fodale Valentina; Sarkozy Anna; Pandit Bhaswati; Oishi Kimihiko; Martinelli Simone; Schackwitz Wendy; Ustaszewska Anna; Martin Joel; Bristow James; Carta Claudio; Lepri Francesca; Neri Cinzia; Vasta Isabella; Gibson Kate; Curry Cynthia J; Siguero Juan Pedro López; Digilio Maria Cristina; Zampino Giuseppe; Dallapiccola Bruno; Bar-Sagi Dafna; Gelb Bruce D
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nature genetics 2007;39(1):75-9.
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2007: Clarimon Jordi; Brancati Francesco; Peckham Elizabeth; Valente Enza Maria; Dallapiccola Bruno; Abruzzese Giovanni; Girlanda Paolo; Defazio Giovanni; Berardelli Alfredo; Hallett Mark; Singleton Andrew B
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.
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2007: Katzaki Eleni; Pescucci Chiara; Uliana Vera; Papa Filomena Tiziana; Ariani Francesca; Meloni Ilaria; Priolo Manuela; Selicorni Angelo; Milani Donatella; Fischetto Rita; Celle Maria Elena; Grasso Rita; Dallapiccola Bruno; Brancati Francesco; Bordignon Marta; Tenconi Romano; Federico Antonio; Mari Francesca; Renieri Alessandra; Longo Ilaria
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Journal of human genetics 2007;52(12):1011-7.
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2007: Orsitto Giuseppe; Seripa Davide; Panza Francesco; Franceschi Marilisa; Cascavilla Leandro; Placentino Giuliana; Matera Maria Giovanna; Paris Francesco; Capurso Cristiano; Solfrizzi Vincenzo; Dallapiccola Bruno; Pilotto Alberto
Apolipoprotein E genotypes in hospitalized elderly patients with vascular dementia.
Dementia and geriatric cognitive disorders 2007;23(5):327-33.
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2007: Bottillo Irene; De Luca Alessandro; Schirinzi Annalisa; Guida Valentina; Torrente Isabella; Calvieri Stefano; Gervasini Cristina; Larizza Lidia; Pizzuti Antonio; Dallapiccola Bruno
Functional analysis of splicing mutations in exon 7 of NF1 gene.
BMC medical genetics 2007;8():4.
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2006: Orsitto Giuseppe; Seripa Davide; Panza Francesco; Franceschi Marilisa; Cascavilla Leandro; Placentino Giuliana; Paris Francesco; Solfrizzi Vincenzo; Dallapiccola Bruno; Pilotto Alberto
Apolipoprotein E genotypes in mild cognitive impairment subtypes.
Journal of the American Geriatrics Society 2006;54(12):1965-6.
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2006: Scarciolla Oronzo; Stuppia Liborio; De Angelis Maria Vittoria; Murru Stefania; Palka Chiara; Giuliani Rossella; Pace Marta; Di Muzio Antonio; Torrente Isabella; Morella Annunziata; Grammatico Paola; Giacanelli Manlio; Rosatelli Maria Cristina; Uncini Antonino; Dallapiccola Bruno
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
Neurogenetics 2006;7(4):269-76.
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2006: Digilio M Cristina; Sarkozy Anna; Pacileo Giuseppe; Limongelli Giuseppe; Marino Bruno; Dallapiccola Bruno
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
European journal of pediatrics 2006;165(11):803-5.
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2006: Calcagni Giulio; Digilio Maria Cristina; Capolino Rossella; Dallapiccola Bruno; Marino Bruno
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.
Clinical dysmorphology 2006;15(4):203-6.
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2006: Gambarin Mattia; Valente Enza Maria; Liberini Paolo; Barrano Giuseppe; Bonizzato Alberto; Padovani Alessandro; Moretto Giuseppe; Fiorio Mirta; Dallapiccola Bruno; Smania Nicola; Fiaschi Antonio; Tinazzi Michele
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.
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2006: Seripa Davide; Franceschi Marilisa; Matera Maria G; Panza Francesco; Kehoe Patrick G; Gravina Carolina; Orsitto Giuseppe; Solfrizzi Vincenzo; Di Minno Giovanni; Dallapiccola Bruno; Pilotto Alberto
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.
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2006: Guida Valentina; Cappabianca Mara Pia; Colosimo Alessia; Rafanelli Francesca; Amato Antonio; Dallapiccola Bruno
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.
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2006: Striano Pasquale; Malacarne Michela; Cavani Simona; Pierluigi Mauro; Rinaldi Rosanna; Cavaliere Maria Luigia; Rinaldi Maria Michela; De Bernardo Carmelilia; Coppola Antonietta; Pintaudi Maria; Gaggero Roberto; Grammatico Paola; Striano Salvatore; Dallapiccola Bruno; Zara Federico; Faravelli Francesca
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.
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2006: Pacileo Giuseppe; Calabrò Paolo; Limongelli Giuseppe; Santoro Giuseppe; Digilio MariaCristina; Sarkozy Anna; Marino Bruno; Dallapiccola Bruno; Calabrò Raffaele
Diffuse coronary dilation in a young patient with LEOPARD syndrome.
International journal of cardiology 2006;112(2):e35-7.
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2006: Sarkozy Anna; Lepri Francesca; Marino Bruno; Pizzuti Antonio; Digilio M Cristina; Dallapiccola Bruno
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.
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2006: Digilio Maria Cristina; Dallapiccola Bruno; Marino Bruno
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.
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2006: Dallapiccola Bruno; Torrente Isabella; Morena Arnaldo; Dagna-Bricarelli Franca; Mingarelli Rita
Genetic testing in Italy, year 2004.
European journal of human genetics : EJHG 2006;14(8):911-6.
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2006: Criscuolo Chiara; Volpe Giampiero; De Rosa Anna; Varrone Andrea; Marongiu Roberta; Mancini Pietro; Salvatore Elena; Dallapiccola Bruno; Filla Alessandro; Valente Enza Maria; De Michele Giuseppe
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.
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2006: Marongiu Roberta; Ghezzi Daniele; Ialongo Tamara; Soleti Francesco; Elia Antonio; Cavone Stefania; Albanese Alberto; Altavista Maria Concetta; Barone Paolo; Brusa Livia; Cortelli Pietro; Petrozzi Lucia; Scaglione Cesa; Stanzione Paolo; Tinazzi Michele; Zeviani Massimo; Dallapiccola Bruno; Bentivoglio Anna Rita; Valente Enza Maria; Garavaglia Barbara;
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.
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2006: Carta Claudio; Pantaleoni Francesca; Bocchinfuso Gianfranco; Stella Lorenzo; Vasta Isabella; Sarkozy Anna; Digilio Cristina; Palleschi Antonio; Pizzuti Antonio; Grammatico Paola; Zampino Giuseppe; Dallapiccola Bruno; Gelb Bruce D; Tartaglia Marco
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.
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2006: Castori Marco; Brancati Francesco; Rinaldi Rosanna; Adami Loredana; Mingarelli Rita; Grammatico Paola; Dallapiccola Bruno
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A 2006;140(14):1573-9.
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2006: Shieh Joseph T C; Aradhya Swaroop; Novelli Antonio; Manning Melanie A; Cherry Athena M; Brumblay Janet; Salpietro Carmelo D; Bernardini Laura; Dallapiccola Bruno; Hoyme H Eugene
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.
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2006: Valente Enza Maria; Silhavy Jennifer L; Brancati Francesco; Barrano Giuseppe; Krishnaswami Suguna Rani; Castori Marco; Lancaster Madeline A; Boltshauser Eugen; Boccone Loredana; Al-Gazali Lihadh; Fazzi Elisa; Signorini Sabrina; Louie Carrie M; Bellacchio Emanuele; Bertini Enrico; Dallapiccola Bruno; Gleeson Joseph G
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nature genetics 2006;38(6):623-5.
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2006: Ferraris Alessandro; Torres Barbara; Knafelz Daniela; Barabino Arrigo; Lionetti Paolo; de Angelis Gian Luigi; Iacono Giuseppe; Papadatou Bronislava; D'Amato Giovanna; Di Ciommo Vincenzo; Dallapiccola Bruno; Castro Massimo
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.
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2006: Castori Marco; Brancati Francesco; Scanderbeg Alessandro Castriota; Dallapiccola Bruno
Hypochondrogenesis.
Pediatric radiology 2006;36(5):460-1.
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2006: Nemoto Hiroshi; Tate Genshu; Schirinzi Annalisa; Suzuki Takao; Sasaya Shoji; Yoshizawa Yasuo; Midorikawa Takemasa; Mitsuya Toshiyuki; Dallapiccola Bruno; Sanada Yutaka
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.
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2006: Bertolino Alessandro; Blasi Giuseppe; Latorre Valeria; Rubino Valeria; Rampino Antonio; Sinibaldi Lorenzo; Caforio Grazia; Petruzzella Vittoria; Pizzuti Antonio; Scarabino Tommaso; Nardini Marcello; Weinberger Daniel R; Dallapiccola Bruno
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.
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2006: Digilio M Cristina; Sarkozy Anna; de Zorzi Andrea; Pacileo Giuseppe; Limongelli Giuseppe; Mingarelli Rita; Calabrò Raffaele; Marino Bruno; Dallapiccola Bruno
LEOPARD syndrome: clinical diagnosis in the first year of life.
American journal of medical genetics. Part A 2006;140(7):740-6.
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2006: Guida Valentina; Colosimo Alessia; Fichera Marco; Lombardo Turiddu; Rigoli Luciana; Dallapiccola Bruno
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers.
Haematologica 2006;91(3):409-10.
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2006: Valente Enza Maria; Brancati Francesco; Silhavy Jennifer L; Castori Marco; Marsh Sarah E; Barrano Giuseppe; Bertini Enrico; Boltshauser Eugen; Zaki Maha S; Abdel-Aleem Alice; Abdel-Salam Ghada M H; Bellacchio Emanuele; Battini Roberta; Cruse Robert P; Dobyns William B; Krishnamoorthy Kalpathy S; Lagier-Tourenne Clotilde; Magee Alex; Pascual-Castroviejo Ignacio; Salpietro Carmelo D; Sarco Dean; Dallapiccola Bruno; Gleeson Joseph G;
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of neurology 2006;59(3):527-34.
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2006: Restivo Angelo; Sarkozy Anna; Digilio Maria Cristina; Dallapiccola Bruno; Marino Bruno
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.
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2006: Latiano Anna; Palmieri O; Valvano Rossella M; D'Incà Renata; Vecchi Maurizio; Ferraris Angelo; Sturniolo Giacomo C; Spina Luisa; Lombardi Giovanni; Dallapiccola Bruno; Andriulli Angelo; Devoto Marcella; Annese Vito
Contribution of IBD5 locus to clinical features of IBD patients.
The American journal of gastroenterology 2006;101(2):318-25.
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2006: Annese V; Latiano A; Rossi L; Bossa F; Damonte G; Dallapiccola B; Serafini S; Pierigé F; Andriulli A; Magnani M
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.
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2006: Brancati Francesco; Sarkozy Anna; Dallapiccola Bruno
KBG syndrome.
Orphanet journal of rare diseases 2006;1():50.
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2006: Magliozzi Monia; Piane Maria; Torrente Isabella; Sinibaldi Lorenzo; Rizzo Giovanni; Savio Camilla; Lulli Patrizia; De Luca Alessandro; Dallapiccola Bruno; Chessa Luciana
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Disease markers 2006;22(4):257-64.
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2006: Amato Antonio; Pia Cappabianca Maria; Ponzini Donatella; Di Biagio Paola; Colosimo Alessia; Guida Valentina; Mastropietro Fabrizio; Foglietta Enrica; Grisanti Paola; Rinaldi Silvana; Dallapiccola Bruno; Bianco Ida
Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.
Hemoglobin 2006;30(3):405-7.
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2006: Ferraris Alessandro; D'Amato Giovanna; Nobili Valerio; Torres Barbara; Marcellini Matilde; Dallapiccola Bruno
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.
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2006: Schirinzi Annalisa; Drmanac Snezana; Dallapiccola Bruno; Huang Steve; Scott Kathryn; De Luca Alessandro; Swanson Donald; Drmanac Radoje; Surrey Saul; Fortina Paolo
Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.
Genetic testing 2006;10(1):8-17.
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2005: De Luca Alessandro; Bottillo Irene; Sarkozy Anna; Carta Claudio; Neri Cinzia; Bellacchio Emanuele; Schirinzi Annalisa; Conti Emanuela; Zampino Giuseppe; Battaglia Agatino; Majore Silvia; Rinaldi Maria M; Carella Massimo; Marino Bruno; Pizzuti Antonio; Digilio Maria Cristina; Tartaglia Marco; Dallapiccola Bruno
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics 2005;77(6):1092-101.
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2005: Castori M; Sinibaldi L; Mingarelli R; Lachman R S; Rimoin D L; Dallapiccola B
Pachydermoperiostosis: an update.
Clinical genetics 2005;68(6):477-86.
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2005: Sarkozy Anna; Esposito Giorgia; Conti Emanuela; Digilio Maria Cristina; Marino Bruno; Calabrò Raffaele; Pizzuti Antonio; Dallapiccola Bruno
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.
American journal of medical genetics. Part A 2005;139(3):236-8.
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2005: Brancati Francesco; Castori Marco; Mingarelli Rita; Dallapiccola Bruno
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.
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2005: Salpietro Carmelo Damiano; Briuglia Silvana; Bertuccio Graziella; Rigoli Luciana; Mingarelli Rita; Dallapiccola Bruno
Report of a third family with Oliver syndrome.
American journal of medical genetics. Part A 2005;139A(2):159-61.
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2005: Vaccaro Mario; Salpietro Damiano Carmelo; Briuglia Silvana; Merlino Maria Valeria; Guarneri Fabrizio; Dallapiccola Bruno
Cutis laxa in Kabuki make-up syndrome.
Journal of the American Academy of Dermatology 2005;53(5 Suppl 1):S247-51.
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2005: Silvestri Laura; Caputo Viviana; Bellacchio Emanuele; Atorino Luigia; Dallapiccola Bruno; Valente Enza Maria; Casari Giorgio
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
Human molecular genetics 2005;14(22):3477-92.
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2005: Castori Marco; Valente Enza Maria; Clementi Maurizio; Tormene Alma Patrizia; Brancati Francesco; Caputo Viviana; Dallapiccola Bruno
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.
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2005: Versacci Paolo; Digilio M Cristina; Sauer Ursula; Dallapiccola Bruno; Marino Bruno
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.
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2005: Prudente Sabrina; Hribal Marta Letizia; Flex Elisabetta; Turchi Federica; Morini Eleonora; De Cosmo Salvatore; Bacci Simonetta; Tassi Vittorio; Cardellini Marina; Lauro Renato; Sesti Giorgio; Dallapiccola Bruno; Trischitta Vincenzo
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.
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2005: Pedrini Elena; De Luca Alessandro; Valente Enza Maria; Maini Veronica; Capponcelli Silvia; Mordenti Marina; Mingarelli Rita; Sangiorgi Luca; Dallapiccola Bruno
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Human mutation 2005;26(3):280.
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2005: Ferraris Alessandro; Knafelz Daniela; Torres Barbara; Fortina Paolo; Castro Massimo; Dallapiccola Bruno
Analysis of CARD15 gene variants in Italian pediatric patients with inflammatory bowel diseases.
The Journal of pediatrics 2005;147(2):272-3.
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2005: Piacentini Gerardo; Digilio M Cristina; Capolino Rossella; Zorzi Andrea De; Toscano Alessandra; Sarkozy Anna; D'Agostino Rita; Marasini Maurizio; Russo M Giovanna; Dallapiccola Bruno; Marino Bruno
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.
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2005: Stuppia Liborio; Antonucci Ivana; Binni Francesco; Brandi Alessandra; Grifone Nicoletta; Colosimo Alessia; De Santo Mariella; Gatta Valentina; Gelli Gianfranco; Guida Valentina; Majore Silvia; Calabrese Giuseppe; Palka Chiara; Ravani Anna; Rinaldi Rosanna; Tiboni Gian Mario; Ballone Enzo; Venturoli Anna; Ferlini Alessandra; Torrente Isabella; Grammatico Paola; Calzolari Elisa; Dallapiccola Bruno
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.
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2005: Sarkozy Anna; Conti Emanuela; Lepri Francesca Romana; Pizzuti Antonio; Dallapiccola Bruno; Autore Camillo; Tartaglia Marco
Hyperthrophic cardiomyopathy and the PTPN11 gene.
American journal of medical genetics. Part A 2005;136(1):93-4.
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2005: Mingarelli Rita; Zuccarello Daniela; Digilio Maria Cristina; Dallapiccola Bruno
A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
American journal of medical genetics. Part A 2005;136(1):84-6.
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2005: Albanese A; Valente E M; Romito L M; Bellacchio E; Elia A E; Dallapiccola B
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
Neurology 2005;64(11):1958-60.
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2005: Annese Vito; Latiano Anna; Rossi Luigina; Lombardi Giovanni; Dallapiccola Bruno; Serafini Sonia; Damonte Giancarlo; Andriulli Angelo; Magnani Mauro
Erythrocytes-mediated delivery of dexamethasone in steroid-dependent IBD patients-a pilot uncontrolled study.
The American journal of gastroenterology 2005;100(6):1370-5.
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2005: Pellecchia M T; Valente E M; Cif L; Salvi S; Albanese A; Scarano V; Bonuccelli U; Bentivoglio A R; D'Amico A; Marelli C; Di Giorgio A; Coubes P; Barone P; Dallapiccola B
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Neurology 2005;64(10):1810-2.
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2005: Digilio Maria Cristina; Capolino Rossella; Marino Bruno; Sarkozy Anna; Dallapiccola Bruno
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.
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2005: Bernardini Laura; Sinibaldi Lorenzo; Ceccarini Caterina; Novelli Antonio; Dallapiccola Bruno
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.
Prenatal diagnosis 2005;25(4):283-5.
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2005: Valente Enza Maria; Marsh Sarah E; Castori Marco; Dixon-Salazar Tracy; Bertini Enrico; Al-Gazali Lihadh; Messer Jean; Barbot Clara; Woods C Geoffrey; Boltshauser Eugen; Al-Tawari Asma A; Salpietro Carmelo D; Kayserili Hulya; Sztriha László; Gribaa Moez; Koenig Michel; Dallapiccola Bruno; Gleeson Joseph G
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Annals of neurology 2005;57(4):513-9.
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2005: Digilio Maria Cristina; Dallapiccola Bruno; Marino Bruno
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.
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2005: Digilio M Cristina; Marino Bruno; Capolino Rossella; Angioni Adriano; Sarkozy Anna; Roberti M Cristina; Conti Emanuela; de Zorzi Andrea; Dallapiccola Bruno
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.
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2005: Valente E M; Edwards M J; Mir P; DiGiorgio A; Salvi S; Davis M; Russo N; Bozi M; Kim H-T; Pennisi G; Quinn N; Dallapiccola B; Bhatia K P
The epsilon-sarcoglycan gene in myoclonic syndromes.
Neurology 2005;64(4):737-9.
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2005: Sarkozy A; Conti E; Neri C; D'Agostino R; Digilio M C; Esposito G; Toscano A; Marino B; Pizzuti A; Dallapiccola B
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.
Journal of medical genetics 2005;42(2):e16.
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2005: Sarkozy Anna; Conti Emanuela; D'Agostino Rita; Digilio Maria Cristina; Formigari Roberto; Picchio Fernando; Marino Bruno; Pizzuti Antonio; Dallapiccola Bruno
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
American journal of medical genetics. Part A 2005;133A(1):68-70.
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2005: Flex E; Pizzuti A; Di Bonaventura C; Douzgou S; Egeo G; Fattouch J; Manfredi M; Dallapiccola B; Giallonardo A T
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.
Journal of neurology 2005;252(1):62-6.
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2005: Fabbrini Giovanni; Brancati Francesco; Vacca Laura; Valente Enza Maria; Nemeth Andrea; Meesaq Angela; Sykes Nuala; Dallapiccola Bruno; Berardelli Alfredo
A novel family with an unusual early-onset generalized dystonia.
Movement disorders : official journal of the Movement Disorder Society 2005;20(1):81-6.
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2005: Novelli A; Ceccarini C; Bernardini L; Zuccarello D; Digilio M C; Mingarelli R; Dallapiccola B
Pure trisomy 19p syndrome in an infant with an extra ring chromosome.
Cytogenetic and genome research 2005;111(2):182-5.
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2004: Sinibaldi Lorenzo; De Luca Alessandro; Bellacchio Emanuele; Conti Emanuela; Pasini Augusto; Paloscia Claudio; Spalletta Gianfranco; Caltagirone Carlo; Pizzuti Antonio; Dallapiccola Bruno
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Human mutation 2004;24(6):534-5.
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2004: Brancati Francesco; D'Avanzo Maria Gabriella; Digilio Maria Cristina; Sarkozy Anna; Biondi Massimo; De Brasi Davide; Mingarelli Rita; Dallapiccola Bruno
KBG syndrome in a cohort of Italian patients.
American journal of medical genetics. Part A 2004;131(2):144-9.
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2004: Sarkozy Anna; Obregon Maria Gabriela; Conti Emanuela; Esposito Giorgia; Mingarelli Rita; Pizzuti Antonio; Dallapiccola Bruno
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.
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2004: Gangemi S; Saija A; Minciullo P L; Tomaino A; Cimino F; Bisignano G; Briuglia S; Merlino M V; Dallapiccola B; Salpietro D C
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.
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2004: Migliosi V; Flex E; Guida V; Martini A; Giarbini N; Markova T; Torrente I; Dallapiccola B
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.
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2004: Savino Maria; d'Apolito Maria; Formica Vincenza; Baorda Filomena; Mari Francesca; Renieri Alessandra; Carabba Enrico; Tarantino Enrico; Andreucci Elena; Belli Serena; Lo Muzio Lorenzo; Dallapiccola Bruno; Zelante Leopoldo; Savoia Anna
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Human mutation 2004;24(5):441.
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2004: Zuccarello D; Morini E; Douzgou S; Ferlin A; Pizzuti A; Salpietro D C; Foresta C; Dallapiccola B
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.
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2004: Valente Enza Maria; Salvi Sergio; Ialongo Tamara; Marongiu Roberta; Elia Antonio Emanuele; Caputo Viviana; Romito Luigi; Albanese Alberto; Dallapiccola Bruno; Bentivoglio Anna Rita
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Annals of neurology 2004;56(3):336-41.
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2004: Pigullo Simona; De Luca Alessandro; Barone Paolo; Marchese Roberta; Bellone Emilia; Colosimo Alessia; Scaglione Cesa; Martinelli Paolo; Di Maria Emilio; Pizzuti Antonio; Abbruzzese Giovanni; Dallapiccola Bruno; Ajmar Franco; Mandich Paola
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Parkinsonism & related disorders 2004;10(6):357-62.
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2004: Franciosa Giovanna; Pourshaban Manoocheher; De Luca Alessandro; Buccino Anna; Dallapiccola Bruno; Aureli Paolo
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.
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2004: Guida Valentina; Colosimo Alessia; Fiorito Mirella; Foglietta Enrica; Bianco Ida; Ivaldi Giovanni; Fichera Marco; Dallapiccola Bruno
Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias.
Clinical chemistry 2004;50(7):1242-5.
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2004: Rossi Luigia; Castro Massimo; D'Orio Francesco; Damonte Gianluca; Serafini Sonja; Bigi Leonardo; Panzani Ivo; Novelli Giuseppe; Dallapiccola Bruno; Panunzi Simona; Di Carlo Pierluigi; Bella Sergio; Magnani Mauro
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.
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2004: Novelli Antonio; Bernardini Laura; Salpietro Damiano Carmelo; Briuglia Silvana; Merlino Maria Valeria; Mingarelli Rita; Dallapiccola Bruno
Disomy of distal Xq in males: case report and overview.
American journal of medical genetics. Part A 2004;128A(2):165-9.
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2004: Di Maria Emilio; Gulli Rossella; Begni Silvia; De Luca Alessandro; Bignotti Stefano; Pasini Augusto; Bellone Emilia; Pizzuti Antonio; Dallapiccola Bruno; Novelli Giuseppe; Ajmar Franco; Gennarelli Massimo; Mandich Paola
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.
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2004: Novelli A; Ceccarini C; Bernardini L; Zuccarello D; Caputo V; Digilio M C; Mingarelli R; Dallapiccola B
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
Clinical genetics 2004;66(1):30-8.
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2004: Miscio Giuseppe; Tassi Vittorio; Coco Angelo; Soccio Teresa; Di Paola Rosa; Prudente Sabrina; Baratta Roberto; Frittitta Lucia; Ludovico Ornella; Padovano Libera; Dallapiccola Bruno; Di Mario Umberto; De Cosmo Salvatore; Trischitta Vincenzo
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.
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2004: Novelli Antonio; Valente Enza Maria; Bernardini Laura; Ceccarini Caterina; Sinibaldi Lorenzo; Caputo Viviana; Cavalli Pietro; Dallapiccola Bruno
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.
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2004: De Luca Alessandro; Schirinzi Annalisa; Buccino Anna; Bottillo Irene; Sinibaldi Lorenzo; Torrente Isabella; Ciavarella Angela; Dottorini Tania; Porciello Roberto; Giustini Sandra; Calvieri Stefano; Dallapiccola Bruno
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
Human mutation 2004;23(6):629.
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2004: Sarkozy A; Conti E; Digilio M Cristina; Marino B; Morini E; Pacileo G; Wilson M; Calabrò R; Pizzuti A; Dallapiccola B
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Journal of medical genetics 2004;41(5):e68.
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2004: Brancati Francesco; Mingarelli Rita; Sarkozy Anna; Dallapiccola Bruno
Ablepharon-macrostomia syndrome in a 46-year-old woman.
American journal of medical genetics. Part A 2004;127A(1):96-8.
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2004: Valente Enza Maria; Abou-Sleiman Patrick M; Caputo Viviana; Muqit Miratul M K; Harvey Kirsten; Gispert Suzana; Ali Zeeshan; Del Turco Domenico; Bentivoglio Anna Rita; Healy Daniel G; Albanese Alberto; Nussbaum Robert; González-Maldonado Rafael; Deller Thomas; Salvi Sergio; Cortelli Pietro; Gilks William P; Latchman David S; Harvey Robert J; Dallapiccola Bruno; Auburger Georg; Wood Nicholas W
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Science (New York, N.Y.) 2004;304(5674):1158-60.
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2004: Ferlin Alberto; Bettella Andrea; Tessari Andrea; Salata Elena; Dallapiccola Bruno; Foresta Carlo
Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility.
Fertility and sterility 2004;81(4):1013-8.
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2004: Digilio Maria Cristina; Torrente Isabella; Goodship Judith A; Marino Bruno; Novelli Giuseppe; Giannotti Aldo; Dallapiccola Bruno
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.
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2004: Pizzuti A; Fabbrini G; Salehi L; Vacca L; Inghilleri M; Dallapiccola B; Berardelli A
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.
Neurology 2004;62(6):1021-2.
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2004: Damiano Salpietro Carmelo; Briuglia Silvana; Valeria Merlino Maria; Piraino Basilia; Valenzise Mariella; Dallapiccola Bruno
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.
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2004: Pizzuti Antonio; Flex Elisabetta; Mingarelli Rita; Salpietro Carmelo; Zelante Leopoldo; Dallapiccola Bruno
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Human mutation 2004;23(3):286.
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2004: Torrente I; Arturi F; D'Aloiso L; Colosimo A; De Luca A; Ferretti E; Russo D; Chiefari E; Scarpelli D; Bisceglia M; Dallapiccola B; Filetti S
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.
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2004: Digilio M Cristina; Pacileo Giuseppe; Sarkozy Anna; Limongelli Giuseppe; Conti Emanuela; Cerrato Fabiana; Marino Bruno; Pizzuti Antonio; Calabrò Raffaele; Dallapiccola Bruno
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.
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2004: Casali C; Valente E M; Bertini E; Montagna G; Criscuolo C; De Michele G; Villanova M; Damiano M; Pierallini A; Brancati F; Scarano V; Tessa A; Cricchi F; Grieco G S; Muglia M; Carella M; Martini B; Rossi A; Amabile G A; Nappi G; Filla A; Dallapiccola B; Santorelli F M
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Neurology 2004;62(2):262-8.
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2003: Brancati Francesco; Mingarelli Rita; Dallapiccola Bruno
Recurrent triploidy of maternal origin.
European journal of human genetics : EJHG 2003;11(12):972-4.
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2003: Brancati F; Valente E M; Tadini G; Caputo V; Di Benedetto A; Gelmetti C; Dallapiccola B
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.
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2003: Pizzuti Antonio; Sarkozy Anna; Newton Anthea L; Conti Emanuela; Flex Elisabetta; Digilio Maria Cristina; Amati Francesca; Gianni Debora; Tandoi Caterina; Marino Bruno; Crossley Merlin; Dallapiccola Bruno
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Human mutation 2003;22(5):372-7.
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2003: Palmieri Orazio; Toth Stephen; Ferraris Alessandro; Andriulli Angelo; Latiano Anna; Annese Vito; Dallapiccola Bruno; Vecchi Maurizio; Devoto Marcella; Surrey Saul; Fortina Paolo
CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.
Clinical chemistry 2003;49(10):1675-9.
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2003: Valente Enza-Maria; Misbahuddin Anjum; Brancati Francesco; Placzek Mark R; Garavaglia Barbara; Salvi Sergio; Nemeth Andrea; Shaw-Smith Charles; Nardocci Nardo; Bentivoglio Anna-Rita; Berardelli Alfredo; Eleopra Roberto; Dallapiccola Bruno; Warner Thomas T
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.
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2003: Ferlin Alberto; Simonato Mauro; Bartoloni Lucia; Rizzo Giorgia; Bettella Andrea; Dottorini Tania; Dallapiccola Bruno; Foresta Carlo
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
The Journal of clinical endocrinology and metabolism 2003;88(9):4273-9.
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2003: Sarkozy A; Conti E; Seripa D; Digilio M C; Grifone N; Tandoi C; Fazio V M; Di Ciommo V; Marino B; Pizzuti A; Dallapiccola B
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Journal of medical genetics 2003;40(9):704-8.
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2003: Gruenert Dieter C; Bruscia Emanuela; Novelli Giuseppe; Colosimo Alessia; Dallapiccola Bruno; Sangiuolo Federica; Goncz Kaarin K
Sequence-specific modification of genomic DNA by small DNA fragments.
The Journal of clinical investigation 2003;112(5):637-41.
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2003: Brancati F; Valente E M; Davies N P; Sarkozy A; Sweeney M G; LoMonaco M; Pizzuti A; Hanna M G; Dallapiccola B
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.
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2003: Digilio Maria Cristina; Giannotti Aldo; Castro Massimo; Colistro Franco; Ferretti Francesca; Marino Bruno; Dallapiccola Bruno
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.
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2003: Salpietro Carmelo Damiano; Briuglia Silvana; Rigoli Luciana; Merlino Maria Valeria; Dallapiccola Bruno
Confirmation of Nablus mask-like facial syndrome.
American journal of medical genetics. Part A 2003;121A(3):283-5.
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2003: Amati Francesca; Condò Ivano; Conti Emanuela; Sangiuolo Federica; Dallapiccola Bruno; Testi Roberto; Novelli Giuseppe
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.
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2003: Valente Enza Maria; Salpietro Damiano Carmelo; Brancati Francesco; Bertini Enrico; Galluccio Tiziana; Tortorella Gaetano; Briuglia Silvana; Dallapiccola Bruno
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.
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2003: Gangemi S; Saija A; Tomaino A; Cimino F; Merendino R A; Minciullo P L; Briuglia S; Merlino M V; Dallapiccola B; Ferlazzo B; Salpietro D C
Protein carbonyl group content in patients affected by familiar chronic nail candidiasis.
Mediators of inflammation 2003;12(4):247-9.
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2003: Digilio Maria Cristina; Angioni Adriano; Giannotti Aldo; Dallapiccola Bruno; Marino Bruno
Truncus arteriosus and duplication 8q.
American journal of medical genetics. Part A 2003;121A(1):79-81.
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2003: De Luca Alessandro; Rizzardi Mario; Buccino Anna; Alessandroni Rosina; Salvioli Gian Paolo; Filograsso Nando; Novelli Giuseppe; Dallapiccola Bruno
Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants.
Neurogenetics 2003;4(4):207-12.
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2003: Conti E; Dottorini T; Sarkozy A; Tiller G E; Esposito G; Pizzuti A; Dallapiccola B
A novel PTPN11 mutation in LEOPARD syndrome.
Human mutation 2003;21(6):654.
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2003: Mangino M; Salpietro D C; Zuccarello D; Gangemi S; Rigoli L; Merlino M V; Briuglia S; Bisignano G; Mingarelli R; Dallapiccola B
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.
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2003: Colosimo Alessia; Guida Valentina; Rigoli Luciana; Di Bella Chiara; De Luca Alessandro; Briuglia Silvana; Stuppia Liborio; Salpietro Damiano Carmelo; Dallapiccola Bruno
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Human mutation 2003;21(6):622-9.
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2003: Brancati F; Valente E M; Castori M; Vanacore N; Sessa M; Galardi G; Berardelli A; Bentivoglio A R; Defazio G; Girlanda P; Abbruzzese G; Albanese A; Dallapiccola B;
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: Colosimo A; Guida V; Flex E; Conti E; Dallapiccola B
Use of DHPLC for rapid screening of recombinant clones.
BioTechniques 2003;34(4):706-8.
-
2003: Conti Emanuela; Grifone Nicoletta; Sarkozy Anna; Tandoi Caterina; Marino Bruno; Digilio Maria Cristina; Mingarelli Rita; Pizzuti Antonio; Dallapiccola Bruno
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.
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2003: Flex E; Mangino M; Mazzoli M; Martini A; Migliosi V; Colosimo A; Mingarelli R; Pizzuti A; Dallapiccola B
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Journal of medical genetics 2003;40(4):278-81.
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2003: Digilio Maria Cristina; Marino Bruno; Giannotti Aldo; Dallapiccola Bruno; Opitz John M
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.
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2003: Pizzuti Antonio; Flex Elisabetta; Di Bonaventura Carlo; Dottorini Tania; Egeo Gabriella; Manfredi Mario; Dallapiccola Bruno; Giallonardo Anna Teresa
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
Annals of neurology 2003;53(3):396-9.
-
2003: De Luca Alessandro; Buccino Anna; Gianni Debora; Mangino Massimo; Giustini Sandra; Richetta Antonio; Divona Luigina; Calvieri Stefano; Mingarelli Rita; Dallapiccola Bruno
NF1 gene analysis based on DHPLC.
Human mutation 2003;21(2):171-2.
-
2003: Defazio Giovanni; Brancati Francesco; Valente Enza Maria; Caputo Viviana; Pizzuti Antonio; Martino Davide; Abbruzzese Giovanni; Livrea Paolo; Berardelli Alfredo; Dallapiccola Bruno
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.
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2003: Sarkozy Anna; Conti Emanuela; Esposito Giorgia; Pizzuti Antonio; Dallapiccola Bruno; Mingarelli Rita; Marino Bruno; Digilio Maria Cristina; Paoletti Vincenzo
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene.
American journal of medical genetics. Part A 2003;116A(4):389-90.
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2003: Ferlin A; Moro E; Rossi A; Dallapiccola B; Foresta C
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.
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2003: Mangino Massimo; Pizzuti Antonio; Dallapiccola Bruno; Bonfante Aldo; Saccilotto Donatella; Cucchiara Elena
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.
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2003: De Luca Alessandro; Conti Emanuela; Grifone Nicoletta; Amati Francesca; Spalletta Gianfranco; Caltagirone Carlo; Bonaviri Giuseppina; Pasini Augusto; Gennarelli Massimo; Stefano Bignotti; Berti Lucia; Mittler Gerhard; Meisterernst Michael; Dallapiccola Bruno; Novelli Giuseppe
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.
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2003: Colosimo Alessia; Guida Valentina; Scolari Anna; De Luca Alessandro; Palka Giandomenico; Rigoli Luciana; Meo Anna; Salpietro Damiano Carmelo; Dallapiccola Bruno
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy.
Genetic testing 2003;7(3):269-75.
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2002: Pizzuti Antonio; Calabrese Giuseppe; Bozzali Maura; Telvi Louise; Morizio Elisena; Guida Valentina; Gatta Valentina; Stuppia Liborio; Ion Alexandra; Palka Giandomenico; Dallapiccola Bruno
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.
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2002: Santacroce Rosa; Ratti Antonia; Caroli Francesco; Foglieni Barbara; Ferraris Alessandro; Cremonesi Laura; Margaglione Maurizio; Seri Marco; Ravazzolo Roberto; Restagno Gabriella; Dallapiccola Bruno; Rappaport Eric; Pollak Eleanor S; Surrey Saul; Ferrari Maurizio; Fortina Paolo
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.
Clinical chemistry 2002;48(12):2124-30.
-
2002: Kudaravalli Rama; Tidd Theresa; Pinotti Mirko; Ratti Antonia; Santacroce Rosa; Margaglione Maurizio; Dallapiccola Bruno; Bernardi Francesco; Fortina Paolo; Devoto Marcella; Pollak Eleanor S
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: Salehi Leila Baghernajad; Mangino Massimo; De Serio Salvatore; De Cicco Domenico; Capon Francesca; Semprini Sabrina; Pizzuti Antonio; Novelli Giuseppe; Dallapiccola Bruno
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
Human genetics 2002;111(4-5):401-4.
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2002: Ferraris Alessandro; Rappaport Eric; Santacroce Rosa; Pollak Eleanor; Krantz Ian; Toth Stephen; Lysholm Frida; Margaglione Maurizio; Restagno Gabriella; Dallapiccola Bruno; Surrey Saul; Fortina Paolo
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.
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2002: Valente E M; Brancati F; Caputo V; Graham E A; Davis M B; Ferraris A; Breteler M M B; Gasser T; Bonifati V; Bentivoglio A R; De Michele G; Dürr A; Cortelli P; Filla A; Meco G; Oostra B A; Brice A; Albanese A; Dallapiccola B; Wood N W;
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.
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2002: Pizzuti Antonio; Argiolas Alessandra; Di Paola Rosa; Baratta Roberto; Rauseo Anna; Bozzali Maura; Vigneri Riccardo; Dallapiccola Bruno; Trischitta Vincenzo; Frittitta Lucia
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: Sarkozy Anna; Mingarelli Rita; Brancati Francesco; Dallapiccola Bruno
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.
American journal of medical genetics 2002;111(4):412-4.
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2002: Zuccarello D; Salpietro D C; Gangemi S; Toscano V; Merlino M V; Briuglia S; Bisignano G; Mangino M; Mingarelli R; Dallapiccola B
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis.
Journal of medical genetics 2002;39(9):671-5.
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2002: Novelli Giuseppe; Muchir Antoine; Sangiuolo Federica; Helbling-Leclerc Anne; D'Apice Maria Rosaria; Massart Catherine; Capon Francesca; Sbraccia Paolo; Federici Massimo; Lauro Renato; Tudisco Cosimo; Pallotta Rosanna; Scarano Gioacchino; Dallapiccola Bruno; Merlini Luciano; Bonne Gisèle
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
American journal of human genetics 2002;71(2):426-31.
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2002: Digilio Maria Cristina; Conti Emanuela; Sarkozy Anna; Mingarelli Rita; Dottorini Tania; Marino Bruno; Pizzuti Antonio; Dallapiccola Bruno
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
American journal of human genetics 2002;71(2):389-94.
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2002: Origone Paola; De Luca Alessandro; Bellini Carlo; Buccino Anna; Mingarelli Rita; Costabel Simona; La Rosa Carmen; Garrè Cecilia; Coviello Domenico A; Ajmar Franco; Dallapiccola Bruno; Bonioli Eugenio
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
Human mutation 2002;20(1):74-5.
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2002: Valente Enza Maria; Brancati Francesco; Caputo Viviana; Bertini Enrico; Patrono Clarice; Costanti Danilo; Dallapiccola Bruno
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.
Annals of neurology 2002;51(6):681-5.
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2002: Colosimo A; Guida V; Palka G; Dallapiccola B
Extrachromosomal genes: a powerful tool in gene targeting approaches.
Gene therapy 2002;9(11):679-82.
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2002: Gruenert D C; Novelli G; Dallapiccola B; Colosimo A
Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy.
Gene therapy 2002;9(11):653-7.
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2002: Flex Elisabetta; De Luca Alessandro; D'Apice Maria Rosaria; Buccino Anna; Dallapiccola Bruno; Novelli Giuseppe
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Neuromuscular disorders : NMD 2002;12(5):501-5.
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2002: Amati Francesca; Conti Emanuela; Botta Annalisa; Amicucci Paola; Dallapiccola Bruno; Novelli Giuseppe
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.
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2002: Foresta Carlo; Ferlin Alberto; Gianaroli Luca; Dallapiccola Bruno
Guidelines for the appropriate use of genetic tests in infertile couples.
European journal of human genetics : EJHG 2002;10(5):303-12.
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2002: Lombardo Francesca; Baudin Eric; Chiefari Eusebio; Arturi Franco; Bardet Stephane; Caillou Bernard; Conte Chiara; Dallapiccola Bruno; Giuffrida Dario; Bidart Jean-Michel; Schlumberger Martin; Filetti Sebastiano
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.
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2002: Brancati Francesco; Defazio Giovanni; Caputo Viviana; Valente Enza Maria; Pizzuti Antonio; Livrea Paolo; Berardelli Alfredo; Dallapiccola Bruno
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.
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2002: Mangino M; Flex E; Digilio M C; Giannotti A; Dallapiccola B
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
Human mutation 2002;19(3):308.
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2002: Colosimo Alessia; Guida Valentina; De Luca Alessandro; Cappabianca Maria Pia; Bianco Ida; Palka Giandomenico; Dallapiccola Bruno
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
Human mutation 2002;19(3):287-95.
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2002: Toscano Alessandra; Anaclerio Silvia; Digilio Maria Cristina; Giannotti Aldo; Fariello Giuseppe; Dallapiccola Bruno; Marino Bruno
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
European journal of pediatrics 2002;161(2):116-7.
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2002: Marino Bruno; Digilio M Cristina; Versacci Paolo; Anaclerio Silvia; Dallapiccola Bruno
[Transposition of great arteries. Understanding its pathogenesis]
Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology 2002;3(2):154-60.
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2002: Foresta Carlo; Bettella Andrea; Ferlin Alberto; Garolla Andrea; Moro Enrico; Baldinotti Fulvia; Simi Paolo; Dallapiccola Bruno
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.
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2002: Valente Enza Maria; Brancati Francesco; Ferraris Alessandro; Graham Elizabeth A; Davis Mary B; Breteler Monique M B; Gasser Thomas; Bonifati Vincenzo; Bentivoglio Anna Rita; De Michele Giuseppe; Dürr Alexandra; Cortelli Pietro; Wassilowsky Dietmar; Harhangi Biswadjiet S; Rawal Nina; Caputo Viviana; Filla Alessandro; Meco Giuseppe; Oostra Ben A; Brice Alexis; Albanese Alberto; Dallapiccola Bruno; Wood Nicholas W;
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
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2001: Giannotti A; Tiberio G; Castro M; Virgilii F; Colistro F; Ferretti F; Digilio M C; Gambarara M; Dallapiccola B
Coeliac disease in Williams syndrome.
Journal of medical genetics 2001;38(11):767-8.
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2001: Botta A; Tandoi C; Fini G; Calabrese G; Dallapiccola B; Novelli G
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.
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2001: Mangino M; Flex E; Capon F; Sangiuolo F; Carraro E; Gualandi F; Mazzoli M; Martini A; Novelli G; Dallapiccola B
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.
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2001: De Luca A; Pasini A; Amati F; Botta A; Spalletta G; Alimenti S; Caccamo F; Conti E; Trakalo J; Macciardi F; Dallapiccola B; Novelli G
Association study of a promoter polymorphism of UFD1L gene with schizophrenia.
American journal of medical genetics 2001;105(6):529-33.
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2001: Goncz K K; Colosimo A; Dallapiccola B; Gagné L; Hong K; Novelli G; Papahadjopoulos D; Sawa T; Schreier H; Wiener-Kronish J; Xu Z; Gruenert D C
Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.
Gene therapy 2001;8(12):961-5.
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2001: Berti L; Mittler G; Przemeck G K; Stelzer G; Günzler B; Amati F; Conti E; Dallapiccola B; Hrabé de Angelis M; Novelli G; Meisterernst M
Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
Genomics 2001;74(3):320-32.
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2001: Anaclerio S; Marino B; Carotti A; Digilio M C; Toscano A; Gitto P; Giannotti A; Di Donato R; Dallapiccola B
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.
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2001: Capon F; Semprini S; Chimenti S; Fabrizi G; Zambruno G; Murgia S; Carcassi C; Fazio M; Mingarelli R; Dallapiccola B; Novelli G
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21.
The Journal of investigative dermatology 2001;116(5):728-30.
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2001: De Luca A; Rizzardi M; Torrente I; Alessandroni R; Salvioli G P; Filograsso N; Dallapiccola B; Novelli G
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.
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2001: De Luca A; Torrente I; Mangino M; Danesi R; Dallapiccola B; Novelli G
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.
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2001: Marino B; Digilio M C; Toscano A; Anaclerio S; Giannotti A; Feltri C; de Ioris M A; Angioni A; Dallapiccola B
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.
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2001: Tandoi C; Botta A; Fini G; Sangiuolo F; Novelli G; Ricci R; Zampino G; Anichini C; Dallapiccola B
Exclusion of the elastin gene in the pathogenesis of Costello syndrome.
American journal of medical genetics 2001;98(3):286-7.
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2001: Ratti A; Amati F; Bozzali M; Conti E; Sangiuolo F; Berloco M; Palumbo G; Botta A; Pizzuti A; Novelli G; Dallapiccola B
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.
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2001: Semprini S; Tacconelli A; Capon F; Brancati F; Dallapiccola B; Novelli G
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
Genetic testing 2001;5(1):33-7.
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2000: Dallapiccola B; Novelli G
Male infertility, pleiotropic genes, and increased risk of diseases in future generations.
Journal of endocrinological investigation 2000;23(9):557-9.
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2000: Sangiuolo F; Bruscia E; Capon F; Servidei S; Dallapiccola B; Novelli G
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.
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2000: Capon F; Tacconelli A; Giardina E; Sciacchitano S; Bruno R; Tassi V; Trischitta V; Filetti S; Dallapiccola B; Novelli G
Mapping a dominant form of multinodular goiter to chromosome Xp22.
American journal of human genetics 2000;67(4):1004-7.
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2000: Capon F; Dallapiccola B; Novelli G
Advances in the search for psoriasis susceptibility genes.
Molecular genetics and metabolism 2000;71(1-2):250-5.
-
2000: Tudisco C; Canepa G; Novelli G; Dallapiccola B
Familial mandibuloacral dysplasia: report of an additional Italian patient.
American journal of medical genetics 2000;94(3):237-41.
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2000: Digilio M C; Marino B; Giannotti A; Di Donato R; Dallapiccola B
Heterotaxy with left atrial isomerism in a patient with deletion 18p.
American journal of medical genetics 2000;94(3):198-200.
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2000: Semprini S; Mango R; Brancati F; Dallapiccola B; Becherini L; Novelli G; De Lorenzo A; Brandi M L; Gennari L
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women.
Calcified tissue international 2000;67(1):93-4.
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2000: Amicucci P; Gennarelli M; Novelli G; Dallapiccola B
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.
Clinical chemistry 2000;46(2):301-2.
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2000: Margiotti K; Sangiuolo F; De Luca A; Froio F; Pearce C L; Ricci-Barbini V; Micali F; Bonafe M; Franceschi C; Dallapiccola B; Novelli G; Reichardt J K
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.
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1999: Botta A; Sangiuolo F; Calza L; Giardino L; Potenza S; Novelli G; Dallapiccola B
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.
Genomics 1999;62(3):525-8.
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1999: Amati F; Conti E; Novelli A; Bengala M; Diglio M C; Marino B; Giannotti A; Gabrielli O; Novelli G; Dallapiccola B
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.
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1999: Marino B; Digilio M C; Toscano A; Giannotti A; Dallapiccola B
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.
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1999: Capon F; Semprini S; Dallapiccola B; Novelli G
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.
American journal of human genetics 1999;65(6):1798-800.
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1999: Servidei S; Capon F; Spinazzola A; Mirabella M; Semprini S; de Rosa G; Gennarelli M; Sangiuolo F; Ricci E; Mohrenweiser H W; Dallapiccola B; Tonali P; Novelli G
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Neurology 1999;53(4):830-7.
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1999: Marino B; Digilio M C; Persiani M; Di Donato R; Toscano A; Giannotti A; Dallapiccola B
Deletion 22q11 in patients with interrupted aortic arch.
The American journal of cardiology 1999;84(3):360-1, A9.
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1999: Novelli A; Sabani M; Caiola A; Digilio M C; Giannotti A; Mingarelli R; Novelli G; Dallapiccola B
Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
Molecular and cellular probes 1999;13(4):303-7.
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1999: Mangino M; Sanchez O; Torrente I; De Luca A; Capon F; Novelli G; Dallapiccola B
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.
American journal of human genetics 1999;65(2):441-7.
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1999: Gennarelli M; Pavoni M; Cruciani F; De Stefano G; Dallapiccola B; Novelli G
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.
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1999: Colosimo A; Serafino A; Sangiuolo F; Di Sario S; Bruscia E; Amicucci P; Novelli G; Dallapiccola B; Mossa G
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.
Biochimica et biophysica acta 1999;1419(2):186-94.
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1999: Digilio M C; Marino B; Toscano A; Giannotti A; Dallapiccola B
Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.
American journal of medical genetics 1999;85(2):140-6.
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1999: Novelli G; Amati F; Dallapiccola B
UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
Trends in genetics : TIG 1999;15(7):251-4.
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1999: Pizzuti A; Novelli G; Ratti A; Amati F; Bordoni R; Mandich P; Bellone E; Conti E; Bengala M; Mari A; Silani V; Dallapiccola B
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.
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1999: Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne L R; Digilio M C; Giannotti A; Dallapiccola B
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.
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1999: Gennarelli M; Pavoni M; Amicucci P; Angelini C; Menegazzo E; Zelano G; Novelli G; Dallapiccola B
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.
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1999: Serafino A L; Novelli G; Di Sario S; Colosimo A; Amicucci P; Sangiuolo F; Mossa G; Dallapiccola B
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.
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1999: Semprini S; Capon F; Bovolenta S; Bruscia E; Pizzuti A; Fabrizi G; Schietroma C; Zambruno G; Dallapiccola B; Novelli G
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.
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1999: Mingarelli R; Mokini V; Castriota Scanderbeg A; Dallapiccola B
Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.
Clinical dysmorphology 1999;8(1):73-5.
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1999: Capon F; Novelli G; Semprini S; Clementi M; Nudo M; Vultaggio P; Mazzanti C; Gobello T; Botta A; Fabrizi G; Dallapiccola B
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.
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1999: De Luca A; Torrente I; Mangino M; Bertini E; Dallapiccola B; Novelli G
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
Human heredity 1999;49(1):59-60.
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1999: Mangino M; Torrente I; De Luca A; Sanchez O; Dallapiccola B; Novelli G
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
Journal of human genetics 1999;44(1):76-7.
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1998: Gennarelli M; Pavoni M; Amicucci P; Novelli G; Dallapiccola B
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.
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1998: Gennarelli M; Lucarelli M; Amicucci P; Soddu S; Novelli G; Dallapiccola B
Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity.
Cell biochemistry and function 1998;16(2):117-22.
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1998: Torrente I; Mangino M; De Luca A; Mingarelli R; Gennarelli M; Giannotti A; Novelli G; Dallapiccola B
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
Prenatal diagnosis 1998;18(5):504-6.
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1998: Mari A; Amati F; Conti E; Bengala M; Novelli G; Dallapiccola B
A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.
Clinical genetics 1998;53(3):226-7.
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1998: Novelli G; Mari A; Amati F; Colosimo A; Sangiuolo F; Bengala M; Conti E; Ratti A; Bordoni R; Pizzuti A; Baldini A; Crinelli R; Pandolfi F; Magnani M; Dallapiccola B
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).
Biochimica et biophysica acta 1998;1396(2):158-62.
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1998: Sangiuolo F; Botta A; Mesoraca A; Servidei S; Merlini L; Fratta G; Novelli G; Dallapiccola B
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.
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1997: Torrente I; Mangino M; Gennarelli M; Novelli G; Giannotti A; Vadalà P; Dallapiccola B
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.
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1997: Marino B; Digilio M C; Novelli G; Giannotti A; Dallapiccola B
Tricuspid atresia and 22q11 deletion.
American journal of medical genetics 1997;72(1):40-2.
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1997: Novelli G; Calzà L; Amicucci P; Giardino L; Pozza M; Silani V; Pizzuti A; Gennarelli M; Piombo G; Capon F; Dallapiccola B
Expression study of survival motor neuron gene in human fetal tissues.
Biochemical and molecular medicine 1997;61(1):102-6.
-
1997: Novelli G; Semprini S; Capon F; Dallapiccola B
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
Neurogenetics 1997;1(1):29-30.
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1997: Pizzuti A; Novelli G; Ratti A; Amati F; Mari A; Calabrese G; Nicolis S; Silani V; Marino B; Scarlato G; Ottolenghi S; Dallapiccola B
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.
Human molecular genetics 1997;6(2):259-65.
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1997: Francalanci P; Gallo P; Dallapiccola B; Calabrese G; Marino B
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.
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1997: Lucarelli M; Gennarelli M; Cardelli P; Novelli G; Scarpa S; Dallapiccola B; Strom R
Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels.
FEBS letters 1997;401(1):53-8.
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1997: Savoia A; Piemontese M R; Savino M; Zatterale A; Pronk J; Arwert F; Joenje H; Ramenghi U; Dagna-Bricarelli F; Dallapiccola B; Zelante L
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.
Human genetics 1997;99(1):93-7.
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1997: Dallapiccola B; Torrente I; Mingarelli R; Novelli G
From genetic research into clinical practice.
Acta geneticae medicae et gemellologiae 1997;46(3):139-46.
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1996: Gennarelli M; Novelli G; Andreasi Bassi F; Martorell L; Cornet M; Menegazzo E; Mostacciuolo M L; Martinez J M; Angelini C; Pizzuti A; Baiget M; Dallapiccola B
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: Mingarelli R; Castriota Scanderbeg A; Dallapiccola B
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
Journal of medical genetics 1996;33(10):884-6.
-
1996: Capon F; Levato C; Merlini L; Angelini C; Mostacciuolo M L; Politano L; Novelli G; Dallapiccola B
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.
Neuromuscular disorders : NMD 1996;6(4):261-4.
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1996: Mesoraca A; Pilu G; Perolo A; Novelli G; Salfi N; Lucchi A; Bovicelli L; Dallapiccola B
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.
Prenatal diagnosis 1996;16(8):764-8.
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1996: Pizzuti A; Amati F; Calabrese G; Mari A; Colosimo A; Silani V; Giardino L; Ratti A; Penso D; Calzà L; Palka G; Scarlato G; Novelli G; Dallapiccola B
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.
Human molecular genetics 1996;5(7):953-8.
-
1996: Digilio M C; Marino B; Grazioli S; Agostino D; Giannotti A; Dallapiccola B
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.
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1996: Mingarelli R; Digilio M C; Mari A; Amati F; Standoli L; Giannotti A; Novelli G; Dallapiccola B
The search for hemizygosity at 22qll in patients with isolated cleft palate.
Journal of craniofacial genetics and developmental biology 1996;16(2):118-21.
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1996: Pizzuti A; Novelli G; Mari A; Ratti A; Colosimo A; Amati F; Penso D; Sangiuolo F; Calabrese G; Palka G; Silani V; Gennarelli M; Mingarelli R; Scarlato G; Scambler P; Dallapiccola B
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.
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1996: Novelli G; Capon F; Levato C; Cavicchini A; Dallapiccola B
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies.
Clinical chemistry 1996;42(4):643-4.
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1996: Marino B; Digilio M C; Grazioli S; Formigari R; Mingarelli R; Giannotti A; Dallapiccola B
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.
The American journal of cardiology 1996;77(7):505-8.
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1996: Capon F; Levato C; Semprini S; Pizzuti A; Merlini L; Novelli G; Dallapiccola B
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.
Muscle & nerve 1996;19(3):378-80.
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1996: Massari A; Novelli G; Colosimo A; Sangiuolo F; Palka G; Calabrese G; Camurri L; Ghirardini G; Milani G; Giorlandino C; Gazzanelli G; Malatesta M; Romanini C; Dallapiccola B
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.
Human genetics 1996;97(2):150-5.
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1996: Iannetti P; Spalice A; Mingarelli R; Raucci U; Novelli A; Dallapiccola B
Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q.
Annales de génétique 1996;39(1):26-30.
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1996: Maceratesi P; Sangiuolo F; Novelli G; Ninfali P; Magnani M; Reichardt J K; Dallapiccola B
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.
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1996: Colosimo A; Calabrese G; Gennarelli M; Ruzzo A M; Sangiuolo F; Magnani M; Palka G; Novelli G; Dallapiccola B
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.
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1996: Colosimo A; Novelli G; Cavicchini A; Dallapiccola B
Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay.
International journal of clinical & laboratory research 1996;26(2):136-9.
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1996: Capon F; Levato C; Bussaglia E; Lo Cicero S; Tizzano E F; Baiget M; Silani V; Pizzuti A; Novelli G; Dallapiccola B
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Human mutation 1996;7(3):198-201.
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1995: Marino B; Gagliardi M G; Digilio M C; Polletta B; Grazioli S; Agostino D; Giannotti A; Dallapiccola B
Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.
European journal of pediatrics 1995;154(12):949-52.
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1995: Gennarelli M; Lucarelli M; Zelano G; Pizzuti A; Novelli G; Dallapiccola B
Different expression of the myotonin protein kinase gene in discrete areas of human brain.
Biochemical and biophysical research communications 1995;216(2):489-94.
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1995: Dallapiccola B; Mingarelli R
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.
Journal of medical genetics 1995;32(10):816-8.
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1995: Mari A; Amati F; Mingarelli R; Giannotti A; Sebastio G; Colloridi V; Novelli G; Dallapiccola B
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
Human genetics 1995;96(4):444-8.
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1995: Gennarelli M; Lucarelli M; Capon F; Pizzuti A; Merlini L; Angelini C; Novelli G; Dallapiccola B
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
Biochemical and biophysical research communications 1995;213(1):342-8.
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1995: Amati F; Mari A; Mingarelli R; Gennarelli M; Digilio M C; Giannotti A; Marino B; Novelli G; Dallapiccola B
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.
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1995: Amati F; Mari A; Digilio M C; Mingarelli R; Marino B; Giannotti A; Novelli G; Dallapiccola B
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Human genetics 1995;95(5):479-82.
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1995: Delaroche I; Sabani M; Calabrese G; Mingarelli R; Palka G; Dallapiccola B
Fetal translocation between chromosomes 2, 18, and 21 resolved by fish.
Prenatal diagnosis 1995;15(3):278-81.
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1995: Novelli G; Gennarelli M; Menegazzo E; Angelini C; Dallapiccola B
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.
Neuromuscular disorders : NMD 1995;5(2):157-9.
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1995: Melchionda S; Digilio M C; Mingarelli R; Novelli G; Scambler P; Marino B; Dallapiccola B
Transposition of the great arteries associated with deletion of chromosome 22q11.
The American journal of cardiology 1995;75(1):95-8.
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1995: Capon F; Lo Cicero S; Levato C; Novelli G; Dallapiccola B
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1995;15(1):93-4.
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1995: Sangiuolo F; Maceratesi P; Mesoraca A; Botta A; Cavicchini A; Novelli G; Dallapiccola B
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.
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1995: Dallapiccola B; Mingarelli R; Novelli G
The link between cytogenetics and mendelism.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1995;49(2):83-93.
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1994: Gennarelli M; Dallapiccola B; Baiget M; Martorell L; Novelli G
Meiotic drive at the myotonic dystrophy locus.
Journal of medical genetics 1994;31(12):980.
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1994: Scirè G; Dallapiccola B; Iannetti P; Bonaiuto F; Galasso C; Mingarelli R; Boscherini B
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.
American journal of medical genetics 1994;52(4):478-82.
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1994: Lo Cicero S; Capon F; Melchionda S; Gennarelli M; Novelli G; Dallapiccola B
First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.
Prenatal diagnosis 1994;14(6):459-62.
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1994: Mastrogiacomo I; Pagani E; Novelli G; Angelini C; Gennarelli M; Menegazzo E; Bonanni G; Dallapiccola B
Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.
Journal of endocrinological investigation 1994;17(5):381-3.
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1994: Iampieri M P; Mingarelli R; Le Guern E; Novelli G; Dallapiccola B
Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.
Prenatal diagnosis 1994;14(4):285-9.
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1994: Dallapiccola B; Mingarelli R; Obregon G
Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.
Clinical genetics 1994;45(4):200-2.
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1994: Ashizawa T; Anvret M; Baiget M; Barceló J M; Brunner H; Cobo A M; Dallapiccola B; Fenwick R G; Grandell U; Harley H
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.
American journal of human genetics 1994;54(3):414-23.
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1994: Dallapiccola B; Mingarelli R; Digilio M C; Marino B; Novelli G
[Genetics of congenital heart diseases]
Giornale italiano di cardiologia 1994;24(2):155-66.
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1994: Novelli G; Spedini G; Destro-Bisol G; Gennarelli M; Fattorini C; Dallapiccola B
North Eurasian origin of the myotonic dystrophy mutation.
Human mutation 1994;4(1):79-81.
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1994: Sangiuolo F; De Santis L; Cavicchini A; Angeloni U; Romanini C; Novelli G; Dallapiccola B
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.
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1994: Novelli G; Sangiuolo F; Maceratesi P; Dallapiccola B
The up-to-date molecular genetics of cystic fibrosis.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(10):455-63.
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1993: Capon F; Cicero S L; Novelli G; Dallapiccola B
PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
PCR methods and applications 1993;3(3):211-2.
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1993: Pizzuti A; Gennarelli M; Novelli G; Colosimo A; Lo Cicero S; Caskey C T; Dallapiccola B
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.
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1993: Dallapiccola B; Mandich P; Bellone E; Selicorni A; Mokin V; Ajmar F; Novelli G
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
American journal of medical genetics 1993;47(6):921-4.
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1993: Audrézet M P; Novelli G; Mercier B; Sangiuolo F; Maceratesi P; Férec C; Dallapiccola B
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity 1993;43(5):295-300.
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1993: Novelli G; Gennarelli M; Sangiuolo F; D'Agruma L; Lo Cicero S; Melchionda S; Dallapiccola B
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.
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1993: Capon F; Melchionda S; Gennarelli M; Lo Cicero S; Giacanelli M; Novelli G; Dallapiccola B
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.
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1993: Del Principe D; Iampieri M P; Germani D; Menichelli A; Novelli G; Dallapiccola B
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.
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1993: Novelli G; Gennarelli M; Zelano G; Pizzuti A; Fattorini C; Caskey C T; Dallapiccola B
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
Biochemistry and molecular biology international 1993;29(2):291-7.
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1993: D'Agruma L; Colosimo A; Angeloni U; Novelli G; Dallapiccola B
Plasmid DNA and low-frequency electromagnetic fields.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(2-3):101-5.
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1993: Novelli G; Gennarelli M; Fattorini C; Abbruzzese C; Dallapiccola B
The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(8):321-30.
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1993: Sangiuolo F; Lo Cicero S; Maceratesi P; Quattrucci S; Novelli G; Dallapiccola B
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
Human mutation 1993;2(5):422-4.
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1992: Novelli G; Gennarelli M; Zelano G; Sangiuolo F; Lo Cicero S; Samson F; Dallapiccola B
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.
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1992: Gennarelli M; Melchionda S; Fattorini C; Novelli G; Dallapiccola B
Genotyping of spinal muscular atrophy families with linked DNA probes.
Clinical genetics 1992;42(6):317-9.
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1992: Dallapiccola B; Giannotti A; Marino B; Digilio C; Obregon G
Familial aplasia cutis congenita and coarctation of the aorta.
American journal of medical genetics 1992;43(4):762-3.
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1992: Pasetto N; Sesti F; De Santis L; Piccione E; Novelli G; Dallapiccola B
The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction.
Gynecologic oncology 1992;46(1):33-6.
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1992: Novelli G; Gennarelli M; Rocchi M; Dallapiccola B
Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.
Human genetics 1992;88(6):697-8.
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1992: Dallapiccola B; Zelante L; Mingarelli R; Pellegrino M; Bertozzi V
Baller-Gerold syndrome: case report and clinical and radiological review.
American journal of medical genetics 1992;42(3):365-8.
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1992: Novelli G; Gennarelli M; De Santis L; Angeloni P; Dallapiccola B
Inosine-containing primers in human papillomavirus detection by polymerase chain reaction.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1992;46(4):167-9.
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1991: Gennarelli M; Novelli G; Cobo A; Baiget M; Dallapiccola B
3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.
Human genetics 1991;87(6):654-6.
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1991: Porfirio B; Smeets D; Beckers L; Caporossi D; Tedeschi B; Vernole P; Joenje H; Nicoletti B; Dallapiccola B
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.
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1991: Novelli G; Gennarelli M; Potenza L; Angeloni P; Dallapiccola B
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.
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1991: Mingarelli R; Valorani G; Zelante L; Dallapiccola B
Ring chromosome 8 associated with microcephaly.
Annales de génétique 1991;34(2):90-2.
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1990: Novelli G; Gasparini P; Savoia A; Pignatti P F; Sangiuolo F; Dallapiccola B
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
Human genetics 1990;85(4):420-1.
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1990: Novelli G; Sangiuolo F; Dallapiccola B; Gasparini P; Savoia A; Pignatti P F; Fernandez E; Benitez J; Casals T; Nunes V
Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.
Prenatal diagnosis 1990;10(6):413-4.
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1989: Estivill X; Gasparini P; Novelli G; Casals T; Nunes V; Gallano P; Savoia A; Ruzzo A; Dallapiccola B; Pignatti P F
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
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1989: Dallapiccola B; Ferranti G; Altissimi D; Colloridi F; Paesano R
First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.
Prenatal diagnosis 1989;9(8):555-8.
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1989: Porfirio B; Ambroso G; Giannella G; Isacchi G; Dallapiccola B
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine.
Human genetics 1989;83(1):49-51.
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1989: Dallapiccola B; Giannotti A; Lembo A; Saguì L
Autosomal recessive form of whistling face syndrome in sibs.
American journal of medical genetics 1989;33(4):542-4.
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1989: Gasparini P; Novelli G; Savoia A; Dallapiccola B; Pignatti P F
First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases.
Prenatal diagnosis 1989;9(5):349-55.
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1989: Dallapiccola B; Marino B; Giannotti A; Valorani G
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.
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1987: Porfirio B; Dallapiccola B; Terrenato L
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites.
Annals of human genetics 1987;51(Pt 4):329-36.
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1986: Farulla A; Monaco E; Corrao C R; Cardoni F; Simonazzi S; Dallapiccola B
[Fanconi's anemia: in vitro tests for the individualization of heterozygotes]
Giornale italiano di medicina del lavoro 1986;8(3-4):133-8.
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