Maria Teresa Divizia

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Laura Bernardini, Stefania Gimelli, Cristina Gervasini et al. · Orphanet Journal of Rare Diseases · 2009 · 141 citations · Full text

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

Renata Bocciardi, Roberto Giorda, Jens Buttgereit et al. · Human Mutation · 2007 · 130 citations

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Developmental Anomaly, Developmental Disorder Characterized, Developmental Biology +6

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Angela Bentivegna, Donatella Milani, Cristina Gervasini et al. · BMC Medical Genetics · 2006 · 73 citations · Full text

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Silvia Russo, Luciano Calzari, Alessandro Mussa et al. · Clinical Epigenetics · 2016 · 68 citations · Full text