Sylvie Cabrol

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

Karine Clément, Christian Vaisse, Najiba Lahlou et al. · Nature · 1998 · 2.4K citations

Obesity, Metabolic Syndrome, Endocrine Mechanism +10

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

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 825 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +3

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

Christine Gicquel, Sylvie Rossignol, Sylvie Cabrol et al. · Nature Genetics · 2005 · 503 citations

Chromosome 11P15, Genetic Disorder, Genetics +4

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

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 et al. · Human Molecular Genetics · 2009 · 249 citations · Full text