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Items: 1 to 20 of 104

1.

Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.

Massah S, Hollebakken R, Labrecque MP, Kolybaba AM, Beischlag TV, Prefontaine GG.

PLoS One. 2014 May 12;9(5):e97535. doi: 10.1371/journal.pone.0097535. eCollection 2014.

2.

Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes.

Gendrel AV, Tang YA, Suzuki M, Godwin J, Nesterova TB, Greally JM, Heard E, Brockdorff N.

Mol Cell Biol. 2013 Aug;33(16):3150-65. doi: 10.1128/MCB.00145-13. Epub 2013 Jun 10.

3.

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.

J Med Genet. 2015 Jan;52(1):53-60. doi: 10.1136/jmedgenet-2014-102732. Epub 2014 Nov 13. Erratum in: J Med Genet. 2015 Feb;52(2):144.

PMID:
25395389
4.

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, Lee JY, Kim JM, Choi IH, Kim YM, Choi JH, Yoo HW.

J Hum Genet. 2013 Sep;58(9):604-10. doi: 10.1038/jhg.2013.67. Epub 2013 Jun 27.

PMID:
23803580
5.

Epigenetics, genomic imprinting and assisted reproductive technology.

Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C.

Ann Endocrinol (Paris). 2010 May;71(3):237-8. doi: 10.1016/j.ando.2010.02.004. Epub 2010 Apr 2.

PMID:
20362968
6.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.

Skelet Muscle. 2017 Jun 6;7(1):12. doi: 10.1186/s13395-017-0129-7.

7.

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Jacob KJ, Robinson WP, Lefebvre L.

Clin Genet. 2013 Oct;84(4):326-34. doi: 10.1111/cge.12143. Epub 2013 Apr 9. Review.

PMID:
23495910
8.

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

Azzi S, Abi Habib W, Netchine I.

Curr Opin Endocrinol Diabetes Obes. 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. Review.

PMID:
24322424
9.

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C.

Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Review.

PMID:
22150955
10.

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C.

Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8.

11.

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.

Chen K, Hu J, Moore DL, Liu R, Kessans SA, Breslin K, Lucet IS, Keniry A, Leong HS, Parish CL, Hilton DJ, Lemmers RJ, van der Maarel SM, Czabotar PE, Dobson RC, Ritchie ME, Kay GF, Murphy JM, Blewitt ME.

Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):E3535-44. doi: 10.1073/pnas.1504232112. Epub 2015 Jun 19.

12.

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H.

Clin Genet. 2014 Dec;86(6):539-44. doi: 10.1111/cge.12318. Epub 2013 Dec 4.

PMID:
24299031
13.

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.

Endocr Dev. 2012;23:60-70. doi: 10.1159/000341750. Epub 2012 Nov 23.

PMID:
23182821
14.
15.

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

Soejima H, Higashimoto K.

J Hum Genet. 2013 Jul;58(7):402-9. doi: 10.1038/jhg.2013.51. Epub 2013 May 30. Review.

PMID:
23719190
16.

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.

Hum Genet. 2015 Mar;134(3):317-332. doi: 10.1007/s00439-014-1526-1. Epub 2015 Jan 7.

17.

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.

Paganini L, Carlessi N, Fontana L, Silipigni R, Motta S, Fiori S, Guerneri S, Lalatta F, Cereda A, Sirchia S, Miozzo M, Tabano S.

Epigenetics. 2015;10(7):643-9. doi: 10.1080/15592294.2015.1057383.

18.

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.

Engemann S, Strödicke M, Paulsen M, Franck O, Reinhardt R, Lane N, Reik W, Walter J.

Hum Mol Genet. 2000 Nov 1;9(18):2691-706.

PMID:
11063728
19.

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.

Hum Mol Genet. 2009 Dec 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14.

PMID:
19755383
20.

Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour.

Astuti D, Latif F, Wagner K, Gentle D, Cooper WN, Catchpoole D, Grundy R, Ferguson-Smith AC, Maher ER.

Br J Cancer. 2005 Apr 25;92(8):1574-80.

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