Maria Cecilia D’Asdia

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

Maria Cecilia D’Asdia, Isabella Torrente, Federica Consoli et al. · European Journal of Medical Genetics · 2012 · 80 citations

Dentistry, Genetics, Molecular Genetics +16

Deletions of <i>NF1</i> gene and exons detected by multiplex ligation-dependent probe amplification

Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia et al. · Journal of Medical Genetics · 2007 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Valentina Pinna, Paola Daniele, Giulio Calcagni et al. · Genes · 2019 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Carmela Fusco, Grazia Nardella, Rita Fischetto et al. · Human Molecular Genetics · 2019 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the <i>EVC</i> gene

Francesca Piceci‐Sparascio, Adrián Palencia‐Campos, Patricia Soto‐Bielicka et al. · Human Mutation · 2020 · 12 citations

Life Sciences, Genetics, Molecular Genetics +17