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American Journal of Medical Genetics. Part A|December 13, 2021
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revisionMarianna Cicenia, Viola Alesi, Valeria Orlando, et al.
American Journal of Medical Genetics. Part A|May 31, 2019
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndromeViola Alesi, Sara Loddo, Federica Calì, et al.
American Journal of Medical Genetics. Part A|February 10, 2015
Hypoplastic left heart syndrome and 21q22.3 deletionLaura Ciocca, M Cristina Digilio, Antonietta Lombardo, et al.
Heart Rhythm|June 20, 2021
Clinical characteristics and risk of arrhythmic events in patients younger than 12 years diagnosed with Brugada syndromeDaniela Righi, Luigina Porco, Camilla Calvieri, et al.
Journal of Cardiovascular Development and Disease|November 25, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature ReviewValentina Lodato, Valeria Orlando, Viola Alesi, et al.
American Journal of Medical Genetics. Part A|November 24, 2011
Familial Poland anomaly revisitedAnwar Baban, Michele Torre, Sara Costanzo, et al.
American Journal of Medical Genetics. Part A|August 5, 2011
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, et al.
Genes|August 6, 2021
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New InsightsGiulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, et al.
Orphanet Journal of Rare Diseases|November 6, 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsLaura Bernardini, Stefania Gimelli, Cristina Gervasini, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
Atrioventricular canal defect in patients with RASopathiesMaria Cristina Digilio, Francesca Romana Lepri, Maria Lisa Dentici, et al.
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