Viviana Cordeddu

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 420 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +9

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 298 citations · Full text

Engineering, Germline Braf Defects, Genetics +16

A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998)

Antonella Olivieri, Maria A. Stazi, P Mastroiacovo et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 200 citations · Full text

Developmental Anomaly, Frequent Malformations, Additional Congenital Malformations +14

Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis

Monica Dentice, Viviana Cordeddu, Annamaria Rosica et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 180 citations