Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

Giuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, +12

The American Journal of Cardiology

HypertensionHeart FailureCardiovascular AbnormalitiesCardiovascular DiseasePhysiology +7

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

M. Cristina Digilio, Laura Bernardini, Rita Mingarelli, +6

American Journal of Medical Genetics Part A

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Giulio Calcagni, Giuseppe Limongelli, A D’Ambrosio, +24

International Journal of Cardiology

Carnet Study ResultsCardiomyopathyHeart FailureCardiovascular DiseaseCardiac Care +4

A double-blind, placebo-controlled randomized trial to evaluate the efficacy of docosahexaenoic acid supplementation on hepatic fat and associated cardiovascular risk factors in overweight children with nonalcoholic fatty liver disease

Lucia Pacifico, Enea Bonci, Michele Di Martino, +4

Nutrition Metabolism and Cardiovascular Diseases

ObesityMetabolic SyndromeNutritionOverweight ChildrenHepatology +10

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Margherita Maioli, Maria Gnoli, Manila Boarini, +9

European Journal of Human Genetics

RASopathies: Clinical Diagnosis in the First Year of Life

M. C. Digilio, Francesca Romana Lepri, Anwar Baban, +8

Molecular Syndromology

DiagnosisPathologyEducationDermatologyCongenital Heart Anomaly +18

New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle

Alessandro De Luca, Anna Sárközy, Rosangela Ferese, +9

Clinical Genetics

Missense ChangeNew MutationsNkx2.5 GeneDevelopmental BiologyCardiomyopathy +12

Abnormal Vasomotor Function of the Epicardial Coronary Arteries in Children Five to Eight Years After Arterial Switch Operation

Maria Giulia Gagliardi, Rachele Adorisio, Filippo Crea, +3

Journal of the American College of Cardiology

HypertensionVascular DiseaseArterial Switch OperationCardiovascular DiseasePediatric Heart Disease +9

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

M. Cristina Digilio, Laura Bernardini, Francesca Romana Lepri, +10

American Journal of Medical Genetics Part A

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, +16

American Journal of Medical Genetics Part A