Antonella Cecconi

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 498 citations · Full text

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

Maria Luisa Giovannucci Uzielli, Silvia Guarducci, Elisabetta Lapi et al. · American Journal of Medical Genetics · 1999 · 80 citations

Fertility, Premature Ovarian Failure, Reproductive Health +22

Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Alessia Nasca, C. Scotton, Irina Zaharieva et al. · Human Mutation · 2017 · 60 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +15

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

Carla Marini, Antonella Cecconi, Elisa Contini et al. · American Journal of Medical Genetics Part A · 2013 · 25 citations