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

Life Sciences, Genetics, Molecular Genetics +17

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 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Endocrinology, Genetics +17

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

Life Sciences, Neurology, Physiology +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 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17