Barbara Grammatico

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 · 278 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +6

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

Lucia Rosaria De Vitis, Andrea Tedde, Francesca Vitelli et al. · Human Genetics · 1996 · 33 citations

Medicine, Oncology, Pathology +11

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Maria Giuseppina Miano, Francesco Testa, Maria Strazzullo et al. · European Journal of Human Genetics · 1999 · 31 citations

Medicine, Genetics, Molecular Genetics +10

A deletion 3' to the PAX6 gene in familial aniridia cases.

Angela D’Elia, Lucia Pellizzari, Dora Fabbro et al. · PubMed · 2007 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17