Silvia Majore

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

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sárközy et al. · The American Journal of Human Genetics · 2005 · 151 citations · Full text

Neurobiology Of Disease, Mendelian Disorder, Genetic Disorder +9

Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli et al. · Human Mutation · 2010 · 89 citations · Full text

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

Sara Tomaselli, Francesca Megiorni, Lin Lin et al. · PLoS ONE · 2011 · 77 citations · Full text

Mutation analysis of the <i>NSD1</i> gene in a group of 59 patients with congenital overgrowth

Maurizio Cecconi, Francesca Forzano, Donatella Milani et al. · American Journal of Medical Genetics Part A · 2005 · 70 citations