Marie-Laure Kottler

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Catherine Dodé, Luís Teixeira, Jacqueline Levilliers et al. · PLoS Genetics · 2006 · 452 citations · Full text

Life Sciences, Endocrinology, Genetics +16

Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

Patricia Niccoli‐Sire, Arnaud Murat, V. Rohmer et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 151 citations

Medicine, Genetics, Molecular Genetics +17

<i>GNAS1</i>Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance

Agnès Linglart, Jean‐Claude Carel, Michèle Garabédian et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A New Compound Heterozygous Mutation of the Gonadotropin-Releasing Hormone Receptor (L314X, Q106R) in a Woman with Complete Hypogonadotropic Hypogonadism: Chronic Estrogen Administration Amplifies the Gonadotropin Defect¹

Marie-Laure Kottler, Stéphanie Chauvin, Najiba Lahlou et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 67 citations · Full text

Life Sciences, Endocrinology, Genetics +17

A new FSHβ mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH

Marie-Laure Kottler, Yen-Yin Chou, Olivier Chabre et al. · European Journal of Endocrinology · 2009 · 60 citations

Medicine, Molecular Biology, Molecular Genetics +17