M Sorcini

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

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

Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003)

Emanuela Medda, Antonella Olivieri, Maria Antonietta Stazi et al. · European Journal of Endocrinology · 2005 · 129 citations

Galectin‐3/AGE‐receptor 3 knockout mice show accelerated AGE‐induced glomerular injury: evidence for a protective role of galectin‐3 as an AGE receptor

Carla Iacobini, Stefano Menini, Giovanna Oddi et al. · The FASEB Journal · 2004 · 112 citations