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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.
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. Netchine I, et al. J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. doi: 10.1210/jc.2007-0354. Epub 2007 May 15. J Clin Endocrinol Metab. 2007. PMID: 17504900
Epigenetics in Silver-Russell syndrome.
Rossignol S, Netchine I, Le Bouc Y, Gicquel C. Rossignol S, et al. Among authors: netchine i. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):403-14. doi: 10.1016/j.beem.2008.01.012. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18538282 Review.
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.
Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. Azzi S, et al. Among authors: netchine i. Hum Mol Genet. 2009 Dec 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14. Hum Mol Genet. 2009. PMID: 19755383
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: netchine i. Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9. Hum Mol Genet. 2010. PMID: 20007505
Epigenetics, genomic imprinting and assisted reproductive technology.
Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C. Le Bouc Y, et al. Among authors: netchine i. Ann Endocrinol (Paris). 2010 May;71(3):237-8. doi: 10.1016/j.ando.2010.02.004. Epub 2010 Apr 2. Ann Endocrinol (Paris). 2010. PMID: 20362968
119 results