Nathalie Thibaud

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 · 504 citations

Life Sciences, Genetics, Molecular Genetics +16

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

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 · 254 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud et al. · Journal of Medical Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Pediatrics +17

<i>CDKN1C</i> mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Frédéric Brioude, Isabelle Oliver‐Petit, A. Blaise et al. · Journal of Medical Genetics · 2013 · 132 citations

Medicine, Genetics, Molecular Genetics +16