Carmelilia De Bernardo

Syndromic true hermaphroditism due to an R-spondin1 (<i>RSPO1</i>) homozygous mutation

Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo et al. · Human Mutation · 2007 · 275 citations

Developmental Biology, Mendelian Disorder, Sex Determination +13

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

Pasquale Striano, Michela Malacarne, Simona Cavani et al. · American Journal of Medical Genetics Part A · 2006 · 52 citations

A novel missense mutation in <i>SLC40A1</i> results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

Émilie Létocart, Gérald Le Gac, Silvia Majore et al. · British Journal of Haematology · 2009 · 47 citations

Iron Metabolism, Genetics, Molecular Biology +20

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

Maria Giuseppina Miano, Francesco Testa, Francesco Filippini et al. · Human Mutation · 2001 · 43 citations

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease

Samantha Cialfi, Ciro Oliviero, Simona Ceccarelli et al. · British Journal of Dermatology · 2009 · 40 citations