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Journal of Cardiovascular Development and Disease|April 26, 2024
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary CareAnwar Baban, Giovanni Parlapiano, Marianna Cicenia, et al.
Heart Failure Clinics|November 15, 2021
Clinical Manifestations of 22q11.2 Deletion SyndromeAnnapaola Cirillo, Michele Lioncino, Annachiara Maratea, et al.
Journal of Clinical Medicine|February 15, 2022
Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?Giulio Calcagni, Camilla Calvieri, Anwar Baban, et al.
Frontiers in Cardiovascular Medicine|August 14, 2023
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patientsAnwar Baban, Marianna Cicenia, Monia Magliozzi, et al.
Diagnostics (Basel, Switzerland)|June 26, 2026
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen IndividualsMaria Gnazzo, Giovanni Parlapiano, Silvia Morlino, et al.
Diagnostics (Basel, Switzerland)|March 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos SyndromeGiulio Calcagni, Federica Ferrigno, Alessio Franceschini, et al.
European Heart Journal|March 1, 2024
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis RegistryJuan Pablo Kaski, Gabrielle Norrish, Juan Ramon Gimeno Blanes, et al.
Circulation. Genomic and Precision Medicine|November 5, 2020
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European RegistryDor Lotan, Joel Salazar-Mendiguchía, Jens Mogensen, et al.
European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, et al.
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