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Maria Cristina Digilio

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Maria Cecilia D'Asdia; Laura Bernardini; Federica Consoli; Bruno Dallapiccola; Maria Cristina Digilio; Rosangela Ferese; Valentina Guida; Monia Magliozzi; Bruno Marino; Isabella Torrente; Alessandro De Luca
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
Adriana Lo-Castro; Maria Cristina Digilio; Francesco Giuseppe Garaci; Paolo Alfieri; Patrizio Bollero; Francesco Brancati; Paolo Curatolo
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
Maria Lisa Dentici; Anwar Baban; Mario De Curtis; Maria Cristina Digilio; Rita Mingarelli; Costantino Romagnoli; Luigi Tarani; Giuseppe Zampino; Bruno Dallapiccola
RDDR: a dysmorphology diagnostic network for newborns in central Italy.

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All Publications

2013: Maria Cecilia D'Asdia; Laura Bernardini; Federica Consoli; Bruno Dallapiccola; Maria Cristina Digilio; Rosangela Ferese; Valentina Guida; Monia Magliozzi; Bruno Marino; Isabella Torrente; Alessandro De Luca
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
European journal of medical genetics 2013;56(2):80-7.
2013: Adriana Lo-Castro; Maria Cristina Digilio; Francesco Giuseppe Garaci; Paolo Alfieri; Patrizio Bollero; Francesco Brancati; Paolo Curatolo
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013;162(1):17-23.
2012: Maria Lisa Dentici; Anwar Baban; Mario De Curtis; Maria Cristina Digilio; Rita Mingarelli; Costantino Romagnoli; Luigi Tarani; Giuseppe Zampino; Bruno Dallapiccola
RDDR: a dysmorphology diagnostic network for newborns in central Italy.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25 Suppl 4():121-3.
2011: Maria Cristina Digilio; Maria Grazia Giuffrida; Valentina Guida; Francesca Lepri; Bruno Marino; Antonio Novelli; Barbara Torres; Paolo Versacci; Anwar Baban; Laura Bernardini; Rossella Capolino; Alessandro De Luca; Bruno Dallapiccola
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
American journal of medical genetics. Part A 2011;155A(9):2196-202.
2011: Francesca Lepri; Bruno Marino; Laura Mazzanti; Giovanni Neri; Francesca Pantaleoni; Alba Pilotta; Cesare Rossi; Angelo Selicorni; Margherita Cirillo Silengo; Franco Stanzial; Lorenzo Stella; Giuseppina Baldassarre; Michela Bonaguro; Viviana Caputo; Viviana Cordeddu; Bruno Dallapiccola; Alessandro De Luca; Maria L Dentici; Maria Cristina Digilio; Maria F Faienza; Francesca Faravelli; Giovanni B Ferrero; Orazio Gabrielli; Bruce D Gelb; Ines Kavamura; Isabella Torrrente; Serenella Venanzi; Bradley J Williams; Giuseppe Zampino; Marco Tartaglia
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Human mutation 2011;32(7):760-72.
2011: Paolo Alfieri; Laura Cesarini; Maria Mallardi; Giorgia Piccini; Cristina Caciolo; Chiara Leoni; Nadia Mirante; Francesca Pantaleoni; Maria Cristina Digilio; Maria Luigia Gambardella; Marco Tartaglia; Stefano Vicari; Eugenio Mercuri; Giuseppe Zampino
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
Behavior genetics 2011;41(3):423-9.
2011: Maria Cristina Roberti; Cecilia Surace; Maria Cristina Digilio; Gemma D'Elia; Pietro Sirleto; Rossella Capolino; Antonietta Lombardo; Anna Cristina Tomaiuolo; Stefano Petrocchi; Adriano Angioni
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
Orphanet journal of rare diseases 2011;6():17.
2010: Marco Oliverio; Maria Cristina Digilio; Paolo Versacci; Bruno Dallapiccola; Bruno Marino
Shells and heart: are human laterality and chirality of snails controlled by the same maternal genes?
American journal of medical genetics. Part A 2010;152A(10):2419-25.
2010: Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria Cristina Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
American journal of human genetics 2010;87(2):250-7.
2010: Giuseppe Limongelli; Silvia Russo; Maria Cristina Digilio; Maura Masciadri; Giuseppe Pacileo; Fiorella Fratta; Francesca Martone; Valeria Maddaloni; Raffaella D'Alessandro; Paolo Calabro; Maria Giovanna Russo; Raffaele Calabro; Lidia Larizza
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
American journal of medical genetics. Part A 2010;152A(8):2127-9.
2010: Alessandro De Luca; Anna Sarkozy; Federica Consoli; Rosangela Ferese; Valentina Guida; Maria Lisa Dentici; Rita Mingarelli; Emanuele Bellacchio; Giulia Tuo; Giuseppe Limongelli; Maria Cristina Digilio; Bruno Marino; Bruno Dallapiccola
Familial transposition of the great arteries caused by multiple mutations in laterality genes.
Heart (British Cardiac Society) 2010;96(9):673-7.
2010: Laura Bernardini; Viola Alesi; Sara Loddo; Antonio Novelli; Irene Bottillo; Agatino Battaglia; Maria Cristina Digilio; Giuseppe Zampino; Adam Ertel; Paolo Fortina; Saul Surrey; Bruno Dallapiccola
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
European journal of human genetics : EJHG 2010;18(2):178-85.
2010: Valentina Guida; Francesca Lepri; Raymon Vijzelaar; Andrea De Zorzi; Paolo Versacci; Maria Cristina Digilio; Bruno Marino; Alessandro De Luca; Bruno Dallapiccola
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
Disease markers 2010;28(5):287-92.
2009: Guido Michielon; Bruno Marino; Gianluca Oricchio; Maria Cristina Digilio; Fiore Iorio; Sergio Filippelli; Silvia Placidi; Roberto M Di Donato
Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.
The Journal of thoracic and cardiovascular surgery 2009;138(3):565-570.e2.
2009: Maria Cristina Digilio; Laura Bernardini; Anna Capalbo; Rossella Capolino; Maria Giulia Gagliardi; Bruno Marino; Antonio Novelli; Bruno Dallapiccola
16p subtelomeric duplication: a clinically recognizable syndrome.
European journal of human genetics : EJHG 2009;17(9):1135-40.
2009: Maria Cristina Digilio; Laura Bernardini; Rita Mingarelli; Rossella Capolino; Anna Capalbo; Maria Grazia Giuffrida; Paolo Versacci; Antonio Novelli; Bruno Dallapiccola
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.
American journal of medical genetics. Part A 2009;149A(8):1777-81.
2009: Bruno Dallapiccola; Maria Cristina Digilio; Adriana Zatterale; Rita Galeone; Rossella Capolino; Rita Mingarelli
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.
Clinical dysmorphology 2009;18(3):135-8.
2009: Roberto Formigari; Guido Michielon; Maria Cristina Digilio; Gerardo Piacentini; Adriano Carotti; Alessandro Giardini; Roberto M Di Donato; Bruno Marino
Genetic syndromes and congenital heart defects: how is surgical management affected?
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2009;35(4):606-14.
2008: Fabiana Cerrato; Giuseppe Pacileo; Giuseppe Limongelli; Maria Giulia Gagliardi; Giuseppe Santoro; Maria Cristina Digilio; Giovanni Di Salvo; Rachele Ardorisio; Tiziana Miele; Raffaele Calabrò
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.
Cardiology in the young 2008;18(6):575-80.
2008: Giuseppe Limongelli; Giuseppe Pacileo; Maria Cristina Digilio; Paolo Calabro'; Giovanni Di Salvo; Alessandra Rea; Tiziana Miele; Alessandro Frigiola; Anna Sarkozy; Bruno Dallapiccola; Bruno Marino; Raffaele Calabro'
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.
International journal of cardiology 2008;130(3):e108-10.
2008: Elisabetta Mascheroni; Maria Cristina Digilio; Elisabetta Cortis; Rita Devito; Anna Sarkozy; Rossella Capolino; Bruno Dallapiccola; Alberto G Ugazio
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.
American journal of medical genetics. Part A 2008;146A(22):2966-7.
2008: Maria Cristina Digilio; Bruno Marino; Bruno Dallapiccola
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.
American journal of medical genetics. Part A 2008;146A(21):2842-4.
2008: Giandomenico Corrado; Stefania Arciello; Paolo Fanti; Luisa Fiandra; Antonio Garonna; Maria Cristina Digilio; Matteo Lorito; Barbara Giordana; Francesco Pennacchio; Rosa Rao
The Chitinase A from the baculovirus AcMNPV enhances resistance to both fungi and herbivorous pests in tobacco.
Transgenic research 2008;17(4):557-71.
2008: Maria Cristina Digilio; Flaminia Calzolari; Rossella Capolino; Alessandra Toscano; Anna Sarkozy; Andrea de Zorzi; Bruno Dallapiccola; Bruno Marino
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
American journal of medical genetics. Part A 2008;146A(14):1815-9.
2008: Maria Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Costello syndrome: clinical diagnosis in the first year of life.
European journal of pediatrics 2008;167(6):621-8.
2008: Giuseppe Limongelli; Anna Sarkozy; Giuseppe Pacileo; Paolo Calabrò; Maria Cristina Digilio; Valeria Maddaloni; Giulia Gagliardi; Giovanni Di Salvo; Maria Iacomino; Bruno Marino; Bruno Dallapiccola; Raffaele Calabrò
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
American journal of medical genetics. Part A 2008;146A(5):620-8.
2008: Giuseppe Limongelli; Giuseppe Pacileo; Daniela Melis; Paolo Calabro'; Maria Cristina Digilio; Anna Sarkozy; Valeria Maddaloni; Giovanbattista Capozzi; Gianfranco Sebastio; Generoso Andria; Raffaele Calabro'
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
American journal of medical genetics. Part A 2008;146(3):327-9.
2008: Maria Cristina Digilio; Rossella Capolino; Bruno Dallapiccola
Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba.
American journal of medical genetics. Part A 2008;146A(2):254-6.
2008: Adriano Carotti; Maria Cristina Digilio; Gerardo Piacentini; Claudia Saffirio; Roberto M Di Donato; Bruno Marino
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.
Developmental disabilities research reviews 2008;14(1):35-42.
2008: Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Leopard syndrome.
Orphanet journal of rare diseases 2008;3():13.
2007: Giuseppe Limongelli; Giuseppe Pacileo; Bruno Marino; Maria Cristina Digilio; Anna Sarkozy; Perry Elliott; Paolo Versacci; Paolo Calabro; Andrea de Zorzi; Giovanni Di Salvo; Petros Syrris; Michael Patton; William J McKenna; Bruno Dallapiccola; Raffaele Calabro
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
The American journal of cardiology 2007;100(4):736-41.
2007: Bhaswati Pandit; Anna Sarkozy; Len A Pennacchio; Claudio Carta; Kimihiko Oishi; Simone Martinelli; Edgar A Pogna; Wendy Schackwitz; Anna Ustaszewska; Andrew P Landstrom; J Martijn Bos; Steve R Ommen; Giorgia Esposito; Francesca Lepri; Faul Christian; Peter Mundel; Juan Pedro López-Siguero; Romano Tenconi; Angelo Selicorni; cesare rossi; Laura Mazzanti; Isabella Torrente; Bruno Marino; Maria Cristina Digilio; Giuseppe Zampino; Michael J Ackerman; Bruno Dallapiccola; Marco Tartaglia; Bruce D Gelb
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nature genetics 2007;39(8):1007-12.
2007: Anna Sarkozy; Annalisa Schirinzi; Francesca Lepri; Irene Bottillo; Alessandro De Luca; Antonio Pizzuti; Marco Tartaglia; Maria Cristina Digilio; Bruno Dallapiccola
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
American journal of medical genetics. Part A 2007;143A(9):1009-11.
2007: Giulio Calcagni; Maria Cristina Digilio; Anna Sarkozy; Bruno Dallapiccola; Bruno Marino
Familial recurrence of congenital heart disease: an overview and review of the literature.
European journal of pediatrics 2007;166(2):111-6.
2007: Gerardo Piacentini; Maria Cristina Digilio; Anna Sarkozy; Silvia Placidi; Bruno Dallapiccola; Bruno Marino
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.
Journal of cardiovascular medicine (Hagerstown, Md.) 2007;8(1):7-11.
2007: Paola Cambiaso; Cinzia Orazi; Maria Cristina Digilio; Sandro Loche; Rossella Capolino; Alberto Tozzi; Antonella Faedda; Marco Cappa
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome.
The Journal of pediatrics 2007;150(1):62-5.
2007: Marco Tartaglia; Len A Pennacchio; Chen Zhao; Kamlesh K Yadav; Valentina Fodale; Anna Sarkozy; Bhaswati Pandit; Kimihiko Oishi; Simone Martinelli; Wendy Schackwitz; Anna Ustaszewska; Joel Martin; James Bristow; Claudio Carta; Francesca Lepri; Cinzia Neri; Isabella Vasta; Kate Gibson; Cynthia J R Curry; Juan Pedro López Siguero; Maria Cristina Digilio; Giuseppe Zampino; Bruno Dallapiccola; Dafna Bar-Sagi; Bruce D Gelb
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nature genetics 2007;39(1):75-9.
2006: Maria Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
European journal of pediatrics 2006;165(11):803-5.
2006: Giulio Calcagni; Maria Cristina Digilio; Rossella Capolino; Bruno Dallapiccola; Bruno Marino
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.
Clinical dysmorphology 2006;15(4):203-6.
2006: Anna Sarkozy; Francesca Lepri; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Bruno Dallapiccola
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
American journal of medical genetics. Part A 2006;140(18):1970-2.
2006: Maria Cristina Digilio; Anna Sarkozy; Andrea de Zorzi; Giuseppe Pacileo; Giuseppe Limongelli; Rita Mingarelli; Raffaele Calabrò; Bruno Marino; Bruno Dallapiccola
LEOPARD syndrome: clinical diagnosis in the first year of life.
American journal of medical genetics. Part A 2006;140(7):740-6.
2006: Guido Michielon; Bruno Marino; Roberto Formigari; Gaetano Gargiulo; Fernando M Picchio; Maria Cristina Digilio; Silvia Anaclerio; Gianluca Oricchio; Stephen P Sanders; Roberto M Di Donato
Genetic syndromes and outcome after surgical correction of tetralogy of Fallot.
The Annals of thoracic surgery 2006;81(3):968-75.
2006: Angelo Restivo; Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.
Journal of cardiovascular medicine (Hagerstown, Md.) 2006;7(2):77-85.
2005: Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics 2005;77(6):1092-101.
2005: Paolo Versacci; Maria Cristina Digilio; Ursula Sauer; Bruno Dallapiccola; Bruno Marino
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.
American journal of medical genetics. Part A 2005;138A(2):185-6.
2005: Gerardo Piacentini; Maria Cristina Digilio; Rossella Capolino; Andrea De Zorzi; Alessandra Toscano; Anna Sarkozy; Rita D'Agostino; Maurizio Marasini; Maria Giovanna Russo; Bruno Dallapiccola; Bruno Marino
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.
American journal of medical genetics. Part A 2005;137(2):176-80.
2005: Rita Mingarelli; Daniela Zuccarello; Maria Cristina Digilio; Bruno Dallapiccola
A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
American journal of medical genetics. Part A 2005;136(1):84-6.
2005: Maria Cristina Digilio; Rossella Capolino; Bruno Marino; Anna Sarkozy; Bruno Dallapiccola
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1.
American journal of medical genetics. Part A 2005;134(4):457-8.
2005: Maria Cristina Digilio; Bruno Marino; Rossella Capolino; Adriano Angioni; Anna Sarkozy; M Cristina Roberti; Emanuela Conti; Andrea de Zorzi; Bruno Dallapiccola
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.
American journal of medical genetics. Part A 2005;134A(2):158-64.
2005: Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects.
American journal of medical genetics. Part A 2005;134A(1):1-2.
2005: Anna Sarkozy; Emanuela Conti; Rita D'Agostino; Maria Cristina Digilio; Roberto Formigari; Fernando M Picchio; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
American journal of medical genetics. Part A 2005;133A(1):68-70.
2005: Anna Sarkozy; Emanuela Conti; Cinzia Neri; R D'Agostino; Maria Cristina Digilio; G Esposito; A Toscano; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.
Journal of medical genetics 2005;42(2):e16.
2005: Antonio Novelli; Caterina Ceccarini; Laura Bernardini; Daniela Zuccarello; Maria Cristina Digilio; Rita Mingarelli; Bruno Dallapiccola
Pure trisomy 19p syndrome in an infant with an extra ring chromosome.
Cytogenetic and genome research 2005;111(2):182-5.
2004: Francesco Brancati; Maria Gabriella D'Avanzo; Maria Cristina Digilio; Anna Sarkozy; Massimo Biondi; Daniele De Brasi; Rita Mingarelli; Bruno Dallapiccola
KBG syndrome in a cohort of Italian patients.
American journal of medical genetics. Part A 2004;131(2):144-9.
2004: Silvia Anaclerio; Vincenzo M. Di Ciommo Laurora; Guido Michielon; Maria Cristina Digilio; Roberto Formigari; Fernando M Picchio; Gaetano Gargiulo; Roberto M Di Donato; Maria Antonietta De Ioris; Bruno Marino
Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.
Italian heart journal : official journal of the Italian Federation of Cardiology 2004;5(8):624-8.
2004: Antonio Novelli; Caterina Ceccarini; Laura Bernardini; Daniela Zuccarello; Viviana Caputo; Maria Cristina Digilio; Rita Mingarelli; Bruno Dallapiccola
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
Clinical genetics 2004;66(1):30-8.
2004: Maria Cristina Digilio; Rossella Capolino; Paolo Versacci; Bruno Marino
Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: an additional familial report.
American journal of medical genetics. Part A 2004;127A(1):101-3.
2004: Anna Sarkozy; Emanuela Conti; Maria Cristina Digilio; Bruno Marino; E Morini; G Pacileo; M Wilson; R Calabrò; Antonio Pizzuti; Bruno Dallapiccola
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Journal of medical genetics 2004;41(5):e68.
2004: Maria Cristina Digilio; Isabella Torrente; Judith A Goodship; Bruno Marino; Giuseppe Novelli; Aldo Giannotti; Bruno Dallapiccola
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p.
American journal of medical genetics. Part A 2004;126A(3):319-23.
2004: Maria Cristina Digilio; Giuseppe Pacileo; Anna Sarkozy; Giuseppe Limongelli; Emanuela Conti; Fabiana Cerrato; Bruno Marino; Antonio Pizzuti; Raffaele Calabrò; Bruno Dallapiccola
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(2):95-8.
2004: Valerio Nobili; Matilde Marcellini; Rita Devito; Rossella Capolino; Laura Viola; Maria Cristina Digilio
Hepatic fibrosis in Kabuki syndrome.
American journal of medical genetics. Part A 2004;124A(2):209-12.
2003: Antonio Pizzuti; Anna Sarkozy; Anthea L Newton; Emanuela Conti; Elisabetta Flex; Maria Cristina Digilio; Francesca Amati; Debora Gianni; Caterina Tandoi; Bruno Marino; Merlin Crossley; Bruno Dallapiccola
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Human mutation 2003;22(5):372-7.
2003: Anna Sarkozy; Emanuela Conti; Davide Seripa; Maria Cristina Digilio; N Grifone; Caterina Tandoi; V M Fazio; V Di Ciommo; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Journal of medical genetics 2003;40(9):704-8.
2003: Marina Pierdominici; Francesca Mazzetta; Elisabetta Caprini; Marco Marziali; Maria Cristina Digilio; Bruno Marino; Alessandro Aiuti; Francesca Amati; Giandomenico Russo; Giuseppe Novelli; Franco Pandolfi; Giuseppe Luzi; Antonello Giovannetti
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Clinical and experimental immunology 2003;132(2):323-31.
2003: Emanuela Conti; Nicoletta Grifone; Anna Sarkozy; Caterina Tandoi; Bruno Marino; Maria Cristina Digilio; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
European journal of human genetics : EJHG 2003;11(4):349-51.
2003: Maria Cristina Digilio; Bruno Marino; Aldo Giannotti; Bruno Dallapiccola; John M Opitz
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
Birth defects research. Part A, Clinical and molecular teratology 2003;67(3):149-53.
2003: Marco Cappa; Carla Bizzarri; Diego Colabianchi; Graziamaria Ubertini; Maria Cristina Digilio; Paola Cambiaso
Growth and pubertal growth spurt in dysmorphic syndromes.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16 Suppl 2():317-20.
2002: Bruno Marino; Rossella Capolino; Maria Cristina Digilio; Roberto Di Donato
Transposition of the great arteries in asplenia and polysplenia phenotypes.
American journal of medical genetics 2002;110(3):292-4.
2002: Massimo Mangino; Elisabetta Flex; Maria Cristina Digilio; Aldo Giannotti; Bruno Dallapiccola
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
Human mutation 2002;19(3):308.
2002: Alessandra Toscano; Silvia Anaclerio; Maria Cristina Digilio; Aldo Giannotti; Giuseppe Fariello; Bruno Dallapiccola; Bruno Marino
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
European journal of pediatrics 2002;161(2):116-7.
2002: Bruno Marino; Maria Cristina Digilio; Paolo Versacci; Silvia Anaclerio; Bruno Dallapiccola
[Transposition of great arteries. Understanding its pathogenesis].
Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology 2002;3(2):154-60.
2001: Silvia Anaclerio; Bruno Marino; A Carotti; Maria Cristina Digilio; Alessandra Toscano; P Gitto; Aldo Giannotti; Roberto M Di Donato; Bruno Dallapiccola
Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.
Italian heart journal : official journal of the Italian Federation of Cardiology 2001;2(5):384-7.
2001: Maria Cristina Digilio; Bruno Marino
Clinical manifestations of Noonan syndrome.
Images in paediatric cardiology 2001;3(2):19-30.
2001: Bruno Marino; Maria Cristina Digilio; Alessandra Toscano; Silvia Anaclerio; Aldo Giannotti; C Feltri; Maria Antonietta De Ioris; A Angioni; Bruno Dallapiccola
Anatomic patterns of conotruncal defects associated with deletion 22q11.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):45-8.
2001: Maria Cristina Digilio; B Marino; Marco Cappa; Paola Cambiaso; A Giannotti; B Dallapiccola
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome).
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):30-3.
2000: M G Obregon; Maria Cristina Digilio; Rita Mingarelli; C Pacifico; L Tieri; A Giannotti; B Dallapiccola
Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome.
American journal of otolaryngology 2000;21(6):405-8.
2000: Maria Cristina Digilio; Bruno Marino; Aldo Giannotti; R Di Donato; Bruno Dallapiccola
Heterotaxy with left atrial isomerism in a patient with deletion 18p.
American journal of medical genetics 2000;94(3):198-200.
2000: Marina Pierdominici; Marco Marziali; Antonello Giovannetti; A Oliva; R Rosso; Bruno Marino; Maria Cristina Digilio; A Giannotti; Giuseppe Novelli; B Dallapiccola; Fernando Aiuti; Franco Pandolfi
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome.
Clinical and experimental immunology 2000;121(1):127-32.
2000: Maria Cristina Digilio; B Marino; A M Musolino; A Giannotti; B Dallapiccola
Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.
Teratology 2000;61(5):329-31.
1999: Bruno Marino; Maria Cristina Digilio; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.
The Journal of pediatrics 1999;135(6):703-6.
1999: Maria Cristina Digilio; C Pacifico; L Tieri; B Marino; A Giannotti; B Dallapiccola
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).
British journal of audiology 1999;33(5):329-33.
1999: Maria Cristina Digilio; B Marino; S Giannico; A Giannotti; B Dallapiccola
Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.
Teratology 1999;60(4):206-8.
1999: Bruno Marino; Maria Cristina Digilio; M Persiani; Roberto M Di Donato; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Deletion 22q11 in patients with interrupted aortic arch.
The American journal of cardiology 1999;84(3):360-1, A9.
1999: Maria Cristina Digilio; Bruno Marino; Alessandra Toscano; Aldo Giannotti; Bruno Dallapiccola
Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.
American journal of medical genetics 1999;85(2):140-6.
1999: Maria Cristina Digilio; B Marino; A Ammirati; U Borzaga; A Giannotti; B Dallapiccola
Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.
American journal of medical genetics 1999;84(4):350-6.
1999: Maria Cristina Digilio; B Marino; P Bagolan; A Giannotti; B Dallapiccola
Microdeletion 22q11 and oesophageal atresia.
Journal of medical genetics 1999;36(2):137-9.
1998: Maria Cristina Digilio; B Marino; S A Canepa; U Borzaga; A Giannotti; B Dallapiccola
Congenital heart defect in sibs with discordant karyotypes.
American journal of medical genetics 1998;80(2):169-72.
1998: Maria Cristina Digilio; B Marino; Fernando M Picchio; D Prandstraller; A Toscano; A Giannotti; B Dallapiccola
Noonan syndrome and aortic coarctation.
American journal of medical genetics 1998;80(2):160-2.
1997: Maria Cristina Digilio; B Marino; U Borzaga; A Giannotti; B Dallapiccola
Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.
American journal of medical genetics 1997;73(4):480-3.
1997: Maria Cristina Digilio; A Giannotti; B Marino; A M Guadagni; M Orzalesi; B Dallapiccola
Radial aplasia and chromosome 22q11 deletion.
Journal of medical genetics 1997;34(11):942-4.
1997: Maria Cristina Digilio; B Marino; A Giannotti; B Dallapiccola
Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
Journal of medical genetics 1997;34(11):927-9.
1997: Bruno Marino; Maria Cristina Digilio; G Novelli; Aldo Giannotti; Bruno Dallapiccola
Tricuspid atresia and 22q11 deletion.
American journal of medical genetics 1997;72(1):40-2.
1997: Maria Cristina Digilio; B Marino; A Giannotti; A Toscano; B Dallapiccola
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.
Journal of medical genetics 1997;34(3):188-90.
1996: B Marino; Maria Cristina Digilio; M G Gagliardi; A Giannotti; B Dallapiccola
Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome.
Pediatric cardiology 1996;17(4):278.
1996: Maria Cristina Digilio; B Marino; S Grazioli; D Agostino; A Giannotti; Bruno Dallapiccola
Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.
The American journal of cardiology 1996;77(15):1375-6.
1996: Maria Cristina Digilio; B Marino; A Giannotti; B Dallapiccola
Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
Journal of medical genetics 1996;33(5):416-8.
1996: Rita Mingarelli; Maria Cristina Digilio; A Mari; Francesca Amati; L Standoli; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
The search for hemizygosity at 22qll in patients with isolated cleft palate.
Journal of craniofacial genetics and developmental biology 1996;16(2):118-21.
1996: B Marino; Maria Cristina Digilio; S Grazioli; Roberto Formigari; R Mingarelli; A Giannotti; Bruno Dallapiccola
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.
The American journal of cardiology 1996;77(7):505-8.
1995: B Marino; M G Gagliardi; Maria Cristina Digilio; B Polletta; S Grazioli; D Agostino; A Giannotti; Bruno Dallapiccola
Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.
European journal of pediatrics 1995;154(12):949-52.
1995: Francesca Amati; A Mari; Rita Mingarelli; Massimo Gennarelli; Maria Cristina Digilio; A Giannotti; B Marino; Giuseppe Novelli; Bruno Dallapiccola
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.
American journal of medical genetics 1995;57(3):483-8.
1995: Francesca Amati; A Mari; Maria Cristina Digilio; Rita Mingarelli; B Marino; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Human genetics 1995;95(5):479-82.
1995: Maria Cristina Digilio; B Marino; Roberto Formigari; A Giannotti
Maternal diabetes causing DiGeorge anomaly and renal agenesis.
American journal of medical genetics 1995;55(4):513-4.
1995: A Giannotti; Maria Cristina Digilio; R Mingarelli; B Dallapiccola
An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
Journal of medical genetics 1995;32(1):72-4.
1995: Salvatore Melchionda; Maria Cristina Digilio; Rita Mingarelli; Giuseppe Novelli; Peter J Scambler; B Marino; Bruno Dallapiccola
Transposition of the great arteries associated with deletion of chromosome 22q11.
The American journal of cardiology 1995;75(1):95-8.
1994: Maria Cristina Digilio; Rita Mingarelli; B Marino; A Giannotti; Salvatore Melchionda; B Dallapiccola
Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype.
Clinical genetics 1994;46(3):268-70.
1994: Bruno Dallapiccola; R Mingarelli; Maria Cristina Digilio; B Marino; G Novelli
[Genetics of congenital heart diseases].
Giornale italiano di cardiologia 1994;24(2):155-66.
1993: Maria Cristina Digilio; B Marino; M P Cicini; A Giannotti; Roberto Formigari; B Dallapiccola
Risk of congenital heart defects in relatives of patients with atrioventricular canal.
American journal of diseases of children (1960) 1993;147(12):1295-7.
1993: Maria Cristina Digilio; A Giannotti; B Marino; M G Obregon; B Dallapiccola
Discrete membranous subaortic stenosis in siblings.
European journal of pediatrics 1993;152(7):622.
1992: A Giannotti; Maria Cristina Digilio; Q Virgili; M G Obregon; A M Guadagni; T Ventura; B Dallapiccola
Familial postaxial acrofacial dysostosis syndrome.
Journal of medical genetics 1992;29(10):752.
1992: A Giannotti; Maria Cristina Digilio; L Standoli; M Zama; B Dallapiccola
New case of Bartsocas-Papas syndrome surviving at 20 months.
American journal of medical genetics 1992;42(5):733-5.
1992: M G Obregon; G L Bergami; A Giannotti; Maria Cristina Digilio; Q Virgili; A M Guadagni; E Pompei; B Dallapiccola
Radiographic findings in Wiedemann-Rautenstrauch syndrome.
Pediatric radiology 1992;22(6):474-5.
1992: M G Obregon; A Giannotti; Maria Cristina Digilio; D Barbuti; R Mingarelli; B Dallapiccola
Horseshoe lung: an additional component of the Vater association.
Pediatric radiology 1992;22(2):158.
1992: M G Obregon; R Mingarelli; Maria Cristina Digilio; L Zelante; A Giannotti; Giovanni Sabatino; B Dallapiccola
Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
Annales de génétique 1992;35(4):208-12.
1991: Fabrizio Drago; Maria Cristina Digilio; S Giannico; A Giannotti; l A Santilli; Attilio Turchetta; Armando Calzolari
[The life style and physical activity of the child operated on for congenital cardiopathy].
Minerva pediatrica 1991;43(6):427-32.