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Items: 1 to 20 of 171

1.

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Niederhoffer KY, PeƱaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF.

Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21.

PMID:
22615066
2.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER.

Hum Reprod. 2009 Mar;24(3):741-7. doi: 10.1093/humrep/den406. Epub 2008 Dec 10.

3.

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
4.

Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.

Sperandeo MP, Ungaro P, Vernucci M, Pedone PV, Cerrato F, Perone L, Casola S, Cubellis MV, Bruni CB, Andria G, Sebastio G, Riccio A.

Am J Hum Genet. 2000 Mar;66(3):841-7.

5.

DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome.

Tierling S, Souren NY, Reither S, Zang KD, Meng-Hentschel J, Leitner D, Oehl-Jaschkowitz B, Walter J.

Clin Genet. 2011 Jun;79(6):546-53. doi: 10.1111/j.1399-0004.2010.01482.x.

PMID:
20618351
6.

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.

7.

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R.

Cytogenet Genome Res. 2006;113(1-4):313-7.

PMID:
16575195
8.

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
9.

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.

10.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.

Hum Mol Genet. 2001 Dec 15;10(26):2989-3000.

11.

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R.

Am J Med Genet A. 2012 Jun;158A(6):1388-94. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14.

PMID:
22585446
12.

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
13.

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L.

J Med Genet. 2006 Aug;43(8):e39.

14.

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM.

Eur J Hum Genet. 2009 Dec;17(12):1625-34. doi: 10.1038/ejhg.2009.77. Epub 2009 Jun 10.

15.

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.

J Med Genet. 1997 May;34(5):353-9.

16.

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.

PMID:
21780245
17.

Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Review.

PMID:
20803657
18.

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.

19.

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

Algar E, Dagar V, Sebaj M, Pachter N.

PLoS One. 2011;6(12):e29034. doi: 10.1371/journal.pone.0029034. Epub 2011 Dec 19.

20.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.

Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H.

Genet Med. 2014 Dec;16(12):903-12. doi: 10.1038/gim.2014.46. Epub 2014 May 8.

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