Sylvie Cabrol

发表论文 49 篇 · 总被引 7072 次 · h-index 30

代表论文

• A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction (1998 · Nature · 被引 2377)
• Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome (2003 · Nature Genetics · 被引 836)
• Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome (2005 · Nature Genetics · 被引 510)
• 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 (2007 · The Journal of Clinical Endocrinology & Metabolism · 被引 319)
• 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 (2009 · Human Molecular Genetics · 被引 257)
• Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients (2010 · The Journal of Clinical Endocrinology & Metabolism · 被引 217)