Maria Luigia Cavaliere

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci et al. · The American Journal of Human Genetics · 2010 · 254 citations · Full text

Tumor Biology, Somatic Variant, Mendelian Disorder +10

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere et al. · European Journal of Human Genetics · 2003 · 86 citations · Full text

Aarskog–scott Syndrome, Molecular Characterisation, Mendelian Disorder +10

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 86 citations

Molecular Neuroscience, Rubinstein–taybi Syndrome, Disease Mechanism +9

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Giuseppe de Crecchio, Francesca Simonelli, Giuseppe Nunziata et al. · Clinical Genetics · 1998 · 68 citations

Ocular Disease, Vitreous Body, Severe Progressive Course +12