Concepedia
Statistics
Publications
33
Citations
1.4K
H-Index
20
Active since
2000
Affiliations
Carlo Forlanini Hospital(Current)
Sapienza University of Rome
Nini Hospital
Bambino Gesù Children's Hospital
Istituti di Ricovero e Cura a Carattere Scientifico
Silvia Majore is an author at Carlo Forlanini Hospital specializing in genetics, molecular genetics, and medicine.
Publications per year
2000–2022
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
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 · 153 citations · Full text
Medicine, Genetics, Molecular Genetics +10
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 · 90 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
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
Life Sciences, Developmental Biology, Genetics +15
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
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