Marie Charles Raux-Demay

New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes1

Anne Marie Moisan, Marie‐Louise Ricketts, Véronique Tardy et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

Étienne Mornet, Marie Charles Raux-Demay, P. Couillin et al. · Human Genetics · 1986 · 64 citations

Medicine, Genetics, Obstetrics +12

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

Marie Charles Raux-Demay, Étienne Mornet, J Boué et al. · Prenatal Diagnosis · 1989 · 12 citations

Medicine, Endocrinology, Obstetrics +17