F. Lorenzini

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Éric Bieth, Sanaa Eddiry, Véronique Gaston et al. · European Journal of Human Genetics · 2014 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)

Véronique Tardy-Guidollet, Rita Menassa, Jean‐Marc Costa et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 98 citations · Full text

Medicine, Endocrinology, Obstetrics +12

AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial

Soraya Allas, Assumpta Caixàs, Christine Poitou et al. · PLoS ONE · 2018 · 97 citations · Full text

Agriculture, Pharmacology, Pharmacotherapy +13

The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

M. Laloi‐Michelin, T. Méas, C. Ambonville et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 95 citations

Medicine, Genetics, Molecular Genetics +17

Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)

Guillausseau Pj, Danièle Dubois‐Laforgue, Pascale Massin et al. · Diabetes & Metabolism · 2004 · 75 citations

Life Sciences, Genetics, Molecular Genetics +16