Russell Silver Syndrome

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Salah Azzi, Jennifer Salem, Nathalie Thibaud, Sandra Chantot-Bastaraud, Eli Lieber, Irène Netchine, Madeleine D Harbison

Journal of Medical Genetics Jul 2015, 52 (7) 446-453; DOI: 10.1136/jmedgenet-2014-102979
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome
Salah Azzi, Virginie Steunou, Jörg Tost, Sylvie Rossignol, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Walid Abi Habib, Annick Blaise, Yves Koudou, Florence Busato, Yves Le Bouc, Irène Netchine

Journal of Medical Genetics Jan 2015, 52 (1) 53-60; DOI: 10.1136/jmedgenet-2014-102732
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
F Brioude, I Oliver-Petit, A Blaise, F Praz, S Rossignol, M Le Jule, N Thibaud, A-M Faussat, M Tauber, Y Le Bouc, I Netchine

Journal of Medical Genetics Dec 2013, 50 (12) 823-830; DOI: 10.1136/jmedgenet-2013-101691

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