Similar articles for PMID: 19066168

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1

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Bartholdi D, et al. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. J Med Genet. 2009. PMID: 19066168 Free article.

2

The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.

Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB. Binder G, et al. J Clin Endocrinol Metab. 2008 Apr;93(4):1402-7. doi: 10.1210/jc.2007-1897. Epub 2008 Jan 29. J Clin Endocrinol Metab. 2008. PMID: 18230663

3

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T. Schönherr N, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. doi: 10.1016/j.ejmg.2006.03.001. Epub 2006 Mar 29. Eur J Med Genet. 2006. PMID: 16603426

4

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. 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

5

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.

Kannenberg K, Urban C, Binder G. Kannenberg K, et al. Clin Genet. 2012 Apr;81(4):366-77. doi: 10.1111/j.1399-0004.2012.01844.x. Epub 2012 Feb 8. Clin Genet. 2012. PMID: 22248018

6

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I. Abi Habib W, et al. Hum Mutat. 2017 Jan;38(1):105-111. doi: 10.1002/humu.23131. Epub 2016 Oct 26. Hum Mutat. 2017. PMID: 27701793

7

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

8

Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.

Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G. Eggermann T, et al. Clin Genet. 2008 Jan;73(1):79-84. doi: 10.1111/j.1399-0004.2007.00930.x. Epub 2007 Dec 7. Clin Genet. 2008. PMID: 18070127

9

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.

Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I. Azzi S, et al. J Med Genet. 2015 Jan;52(1):53-60. doi: 10.1136/jmedgenet-2014-102732. Epub 2014 Nov 13. J Med Genet. 2015. PMID: 25395389

10

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

Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. Gicquel C, et al. Nat Genet. 2005 Sep;37(9):1003-7. doi: 10.1038/ng1629. Epub 2005 Aug 7. Nat Genet. 2005. PMID: 16086014

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