Filomena Valentina Gentile

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya Swinnen, Paul Coucke, Anne M. De Paepe et al. · Orphanet Journal of Rare Diseases · 2011 · 65 citations · Full text

Health Professions, Audiology, Genetics +17

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

Christal L. Vitiello, Pio D’Adamo, Filomena Valentina Gentile et al. · American Journal of Medical Genetics Part A · 2005 · 61 citations

Life Sciences, Genetics, Molecular Genetics +11

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation

Monia Zuntini, Elena Pedrini, Alessandro Parra et al. · Oncogene · 2010 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of<i>COL1A1</i>and<i>COL1A2</i>point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

Filomena Valentina Gentile, Monia Zuntini, Alessandro Parra et al. · Human Mutation · 2012 · 15 citations

Medicine, Genetics, Molecular Genetics +16