Stéphanie Portrat-Doyen

Isolated Aldosterone Synthase Deficiency Caused by Simultaneous E198D and V386A Mutations in the CYP11B2 Gene¹

Stéphanie Portrat-Doyen, J Tourniaire, O. Richard et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 80 citations · Full text

Life Sciences, Endocrinology, Genetics +17

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia

Christa E. Flück, Alexander Maret, Delphine Mallet et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 59 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1

Olivier Chabre, Stéphanie Portrat-Doyen, Philippe Chaffanjon et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 52 citations · Full text

Medicine, Endocrinology, Genetics +14

Two Novel Mutations in Splice Donor Sites of<i>CYP11B1</i>in Congenital Adrenal Hyperplasia Due to 11β-Hydroxylase Deficiency

Olivier Chabre, Stéphanie Portrat-Doyen, J Vivier et al. · Endocrine Research · 2000 · 21 citations

Life Sciences, Endocrinology, Genetics +17