Patricia A. Donohoue

A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk

María J. Redondo, Susan Geyer, Andrea K. Steck et al. · Diabetes Care · 2018 · 169 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Clinical and Functional Effects of Mutations in the<i>DAX-1</i>Gene in Patients with Adrenal Hypoplasia Congenita¹

Anne T. Reutens, John C. Achermann, Masafumi Ito et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 154 citations · Full text

Medicine, Endocrinology, Genetics +16

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Éric Vilain et al. · Human Molecular Genetics · 2016 · 131 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Gene Conversion in Salt-Losing Congenital Adrenal Hyperplasia with Absent Complement C4B Protein*

Patricia A. Donohoue, Cornelis Van Dop, Robert H. McLean et al. · The Journal of Clinical Endocrinology & Metabolism · 1986 · 128 citations

Life Sciences, Endocrinology, Genetics +17

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations

Sophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 126 citations · Full text

Medicine, Endocrinology, Genetics +17