Duarte Pignatelli

Loss-of-function mutation in the <i>prokineticin 2</i> gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Nelly Pitteloud, Chengkang Zhang, Duarte Pignatelli et al. · Proceedings of the National Academy of Sciences · 2007 · 263 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Mutations in<i>Prokineticin 2</i>and<i>Prokineticin receptor 2</i>genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Lindsay W. Cole, Yisrael Sidis, Chengkang Zhang et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 206 citations · Full text

Medicine, Endocrinology, Molecular Genetics +17

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD

Lionel Groussin, Lawrence S. Kirschner, Caroline Vincent-Dejean et al. · The American Journal of Human Genetics · 2002 · 187 citations · Full text

Life Sciences, Endocrinology, Molecular Genetics +17

21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study

Carlos Morán, Ricardo Azziz, Enrico Carmina et al. · American Journal of Obstetrics and Gynecology · 2000 · 183 citations

Life Sciences, Endocrinology, Pathology +12

Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia

Carlos Morán, Ricardo Azziz, Naomi Weintrob et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 176 citations · Full text

Medicine, Endocrinology, Obstetrics +10