Marie‐Laure Kottler

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 830 citations

Life Sciences, Genetics, Molecular Genetics +9

Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

Anne Lienhardt, Mei Bai, Jean‐Pierre Lagarde et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 154 citations

Medicine, Endocrinology, Nephrology +17

<i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

Arnaud Molin, R. Baudoin, Martin Kaufmann et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 141 citations · Full text

Medicine, Endocrinology, Genetics +17

KiSS‐1 and GPR54 Genes are Co‐Expressed in Rat Gonadotrophs and Differentially Regulated <i>In Vivo</i> by Oestradiol and Gonadotrophin‐Releasing Hormone

Nicolas Richard, G. Galmiche, Sophie Corvaisier et al. · Journal of Neuroendocrinology · 2008 · 140 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +12

A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance

Virginie Mariot, Stéphanie Maupetit‐Mehouas, Christiane Sinding et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 110 citations

Medicine, Genetics, Molecular Genetics +16