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Items: 1 to 20 of 199

1.

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.

2.

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D.

Hum Mutat. 2013 Apr;34(4):595-602. doi: 10.1002/humu.22276. Epub 2013 Feb 19.

PMID:
23335487
3.

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.

PMID:
19073614
4.

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
5.

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.

6.

Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.

Rumbajan JM, Maeda T, Souzaki R, Mitsui K, Higashimoto K, Nakabayashi K, Yatsuki H, Nishioka K, Harada R, Aoki S, Kohashi K, Oda Y, Hata K, Saji T, Taguchi T, Tajiri T, Soejima H, Joh K.

BMC Cancer. 2013 Dec 27;13:608. doi: 10.1186/1471-2407-13-608.

7.

Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome.

Singh VB, Sribenja S, Wilson KE, Attwood KM, Hillman JC, Pathak S, Higgins MJ.

Development. 2017 May 15;144(10):1820-1830. doi: 10.1242/dev.145136. Epub 2017 Apr 20.

8.

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
9.

Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.

Higashimoto K, Nakabayashi K, Yatsuki H, Yoshinaga H, Jozaki K, Okada J, Watanabe Y, Aoki A, Shiozaki A, Saito S, Koide K, Mukai T, Hata K, Soejima H.

Am J Med Genet A. 2012 Jul;158A(7):1670-5. doi: 10.1002/ajmg.a.35335. Epub 2012 May 10.

PMID:
22577095
10.

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.

11.

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
12.

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.

13.

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T.

J Hum Genet. 2016 Aug;61(8):765-9. doi: 10.1038/jhg.2016.45. Epub 2016 Apr 28.

PMID:
27121328
14.

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.

J Med Genet. 2000 Dec;37(12):921-6.

15.

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.

Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockett GA, Arshad H, Wilson DI, Holloway JW, Temple IK, Mackay DJ.

J Med Genet. 2014 Apr;51(4):229-38. doi: 10.1136/jmedgenet-2013-102116. Epub 2014 Feb 5. Erratum in: J Med Genet. 2014 Jul;51(7):478.

16.

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.

Murrell A, Heeson S, Cooper WN, Douglas E, Apostolidou S, Moore GE, Maher ER, Reik W.

Hum Mol Genet. 2004 Jan 15;13(2):247-55. Epub 2003 Nov 25.

PMID:
14645199
17.

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ.

Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8064-9.

18.

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.

Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ.

J Med Genet. 2003 Nov;40(11):797-801.

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.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A.

Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17.

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