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Items: 1 to 20 of 149

1.

Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer.

Chen CP, Su YN, Chen SU, Chang TY, Wu PC, Chern SR, Wu PS, Kuo YL, Wang W.

Taiwan J Obstet Gynecol. 2014 Mar;53(1):90-4. doi: 10.1016/j.tjog.2013.12.003.

2.

Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith-Wiedemann syndrome.

Chen KJ, Liu YM, Li CH, Chang YL, Chang SD.

Taiwan J Obstet Gynecol. 2016 Dec;55(6):877-880. doi: 10.1016/j.tjog.2016.05.012.

3.

Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia.

Chen CP, Su YN, Lin MH, Wang TY, Chern SR, Kuo YL, Chen YT, Wang W.

Taiwan J Obstet Gynecol. 2014 Mar;53(1):68-73. doi: 10.1016/j.tjog.2013.10.036.

4.

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
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.

Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies.

Wilkins-Haug L, Porter A, Hawley P, Benson CB.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):58-62. doi: 10.1002/bdra.20547.

PMID:
19107956
7.

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.

8.

Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.

Pandita A, Gupta S, Gupta G, Panghal A.

BMJ Case Rep. 2018 Mar 30;2018. pii: bcr-2017-222419. doi: 10.1136/bcr-2017-222419.

PMID:
29602885
9.

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation.

Senniappan S, Ismail D, Shipster C, Beesley C, Hussain K.

J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):83-6. doi: 10.1515/jpem-2013-0390.

PMID:
24468603
10.

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.

11.

Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome.

Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gérard-Blanluet M.

Am J Med Genet A. 2004 Aug 30;129A(2):198-200.

PMID:
15316976
12.

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.

13.

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M.

Epigenetics. 2013 Oct;8(10):1053-60. doi: 10.4161/epi.25812. Epub 2013 Aug 5.

14.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP.

Mol Genet Metab. 2016 Sep;119(1-2):8-13. doi: 10.1016/j.ymgme.2016.07.003. Epub 2016 Jul 12.

PMID:
27436784
15.

Methylation analysis of KvDMR1 in human oocytes.

Geuns E, Hilven P, Van Steirteghem A, Liebaers I, De Rycke M.

J Med Genet. 2007 Feb;44(2):144-7. Epub 2006 Sep 1.

16.

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
17.

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C.

J Med Genet. 2006 Dec;43(12):902-7. Epub 2006 Jul 6.

18.

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.

19.

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.

20.

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

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