Patricia Bretones

Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency

Delphine Mallet, Patricia Bretones, Laurence Michel‐Calemard et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 140 citations · Full text

Medicine, Endocrinology, Genetics +17

Predictive value of maternal second-generation thyroid-binding inhibitory immunoglobulin assay for neonatal autoimmune hyperthyroidism

Juliette Abeillon-du Payrat, Karim Chikh, Nadine Bossard et al. · European Journal of Endocrinology · 2014 · 108 citations · Full text

Medicine, Endocrinology, Obstetrics +16

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)

Delphine Zénaty, Patricia Bretones, Cécile Lambe et al. · Molecular and Cellular Endocrinology · 2006 · 55 citations

Life Sciences, Genetics, Molecular Genetics +9

A Familial Case of Congenital Hypothyroidism Caused by a Homozygous Mutation of the Thyrotropin Receptor Gene

Patricia Bretones, L Duprez, Jasmine Parma et al. · Thyroid · 2001 · 45 citations

Medicine, Endocrinology, Genetics +13

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Elodie Fiot, Bertille Alauze, Bruno Donadille et al. · Orphanet Journal of Rare Diseases · 2022 · 45 citations · Full text

Life Sciences, Endocrinology, Genetics +17