Blandine Esteva

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 312 citations · Full text

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Jacques Young, Corinne Métay, Jérôme Bouligand et al. · Human Reproduction · 2012 · 139 citations · Full text

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.

Danielle Naville, Laure Barjhoux, Céline Jaillard et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 90 citations · Full text

Genetics, Acth Receptor Gene, Glucocorticoid +18

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Loïc de Pontual, Delphine Trochet, Sophie Caillat‐Zucman et al. · Pediatric Research · 2008 · 72 citations · Full text

Clinical Disorders, Sleep, Autonomic System +8

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 58 citations · Full text