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Items: 1 to 20 of 310

1.

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
2.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.

3.

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
4.

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.

Eur J Hum Genet. 2001 Jun;9(6):409-18.

5.

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M.

Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9.

PMID:
27612309
6.

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.

7.

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age.

Murphy R, Mackay D, Mitchell EA.

BMC Med Genet. 2012 Nov 1;13:99. doi: 10.1186/1471-2350-13-99.

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.

Clin Genet. 2008 Jan;73(1):79-84. Epub 2007 Dec 7.

PMID:
18070127
9.

Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.

Higashimoto K, Urano T, Sugiura K, Yatsuki H, Joh K, Zhao W, Iwakawa M, Ohashi H, Oshimura M, Niikawa N, Mukai T, Soejima H.

Am J Hum Genet. 2003 Oct;73(4):948-56. Epub 2003 Aug 29.

10.

Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.

Lukova M, Todorova A, Todorov T, Mitev V.

Mol Biol Rep. 2013 Jan;40(1):263-8. doi: 10.1007/s11033-012-2057-2. Epub 2012 Oct 20.

PMID:
23086270
11.

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T.

J Pediatr Endocrinol Metab. 2007 Dec;20(12):1329-31.

PMID:
18341093
12.

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.

DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.

Am J Hum Genet. 2002 Mar;70(3):604-11. Epub 2002 Jan 28.

13.

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
14.

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I.

Hum Mutat. 2011 Feb;32(2):249-58. doi: 10.1002/humu.21403.

PMID:
21280150
15.

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T.

PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22.

16.

Imprinted disorders and growth.

Giabicani É, Brioude F, Le Bouc Y, Netchine I.

Ann Endocrinol (Paris). 2017 Jun;78(2):112-113. doi: 10.1016/j.ando.2017.04.010. Epub 2017 May 4.

PMID:
28478949
17.

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
18.

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
19.

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.

Hum Genet. 2014 Mar;133(3):321-30. doi: 10.1007/s00439-013-1379-z. Epub 2013 Oct 24.

PMID:
24154661
20.

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment.

Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A.

Eur J Hum Genet. 2008 May;16(5):565-71. doi: 10.1038/sj.ejhg.5202001. Epub 2008 Jan 23.

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