A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Karine Clément, Christian Vaisse, Najiba Lahlou, +12

Nature

ObesityMetabolic SyndromeEndocrine MechanismGeneticsPhysiology +8

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

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont, +27

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsLoss-of-function Mutations +1

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Christine Gicquel, Sylvie Rossignol, Sylvie Cabrol, +10

Nature Genetics

Chromosome 11P15Genetic DisorderGeneticsChromosome BiologyMedicine +2

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, +19

The Journal of Clinical Endocrinology & Metabolism

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Salah Azzi, Sylvie Rossignol, Virginie Steunou, +9

Human Molecular Genetics

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maı̈moun, Pascal Philibert, B. Cammas, +33

The Journal of Clinical Endocrinology & Metabolism

Endocrine involvement in pediatric-onset langerhans' cell histiocytosis: a population-based study

Jean Donadieu, Maria-Alejandra Rolon, Caroline Thomas, +12

The Journal of Pediatrics

Endocrine InvolvementHematologyHistopathologyImmunologyPathology +3

Evaluation of Gonadal Function in 107 Intersex Patients by Means of Serum Antimüllerian Hormone Measurement¹

Rodolfo A. Rey, Corinne Belville, Claire Nihoul‐Feketé, +25

The Journal of Clinical Endocrinology & Metabolism

Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study

Jean‐Claude Carel, Caroline Elie, Emmanuel Écosse, +7

The Journal of Clinical Endocrinology & Metabolism

Adult Height and Pubertal Growth in Turner Syndrome after Treatment with Recombinant Growth Hormone

Leandro Soriano-Guillén, Joël Coste, Emmanuel Écosse, +7

The Journal of Clinical Endocrinology & Metabolism