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Results: 1 to 20 of 100

1.

Molecular findings in Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):131-40. doi: 10.1002/ajmg.c.31363. Epub 2013 Apr 16. Review.

PMID:
23592339
[PubMed - indexed for MEDLINE]
2.

Molecular biology of Beckwith-Wiedemann syndrome.

Weksberg R, Squire JA.

Med Pediatr Oncol. 1996 Nov;27(5):462-9. Review.

PMID:
8827075
[PubMed - indexed for MEDLINE]
3.

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al.

Hum Mol Genet. 1993 May;2(5):549-56.

PMID:
8518793
[PubMed - indexed for MEDLINE]
4.

Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Smith AC.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. Review.

PMID:
16010676
[PubMed - indexed for MEDLINE]
5.

Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.

Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams BR.

Genomics. 1990 Dec;8(4):693-8.

PMID:
2276740
[PubMed - indexed for MEDLINE]
6.

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.

Weksberg R, Smith AC, Squire J, Sadowski P.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R61-8. Review.

PMID:
12668598
[PubMed - indexed for MEDLINE]
Free Article
7.

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.

South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC.

Am J Med Genet A. 2008 Oct 15;146A(20):2691-7. doi: 10.1002/ajmg.a.32516.

PMID:
18798325
[PubMed - indexed for MEDLINE]
8.

Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome.

Greally JM.

Mol Biotechnol. 1999 Apr;11(2):159-73. Review.

PMID:
10464770
[PubMed - indexed for MEDLINE]
9.

Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.

Smith AC, Suzuki M, Thompson R, Choufani S, Higgins MJ, Chiu IW, Squire JA, Greally JM, Weksberg R.

Genomics. 2012 Jan;99(1):25-35. doi: 10.1016/j.ygeno.2011.10.007. Epub 2011 Nov 3.

PMID:
22079941
[PubMed - indexed for MEDLINE]
Free Article
10.

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.

Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19.

PMID:
21248736
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

Paulsen M, Davies KR, Bowden LM, Villar AJ, Franck O, Fuermann M, Dean WL, Moore TF, Rodrigues N, Davies KE, Hu RJ, Feinberg AP, Maher ER, Reik W, Walter J.

Hum Mol Genet. 1998 Jul;7(7):1149-59.

PMID:
9618174
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
16825435
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.

Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M.

Hum Mol Genet. 2000 Sep 1;9(14):2075-83.

PMID:
10958646
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.

Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillon-Miller P, Schlessinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannens M, Feinberg AP.

Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12456-60.

PMID:
8618920
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Eggermann T.

Horm Res. 2009 Apr;71 Suppl 2:30-5. doi: 10.1159/000192433. Epub 2009 Apr 29. Review.

PMID:
19407494
[PubMed - indexed for MEDLINE]
18.

Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.

Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A.

Pediatr Dev Pathol. 2010 Jul-Aug;13(4):326-30. doi: 10.2350/09-07-0686-CR.1.

PMID:
20028213
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
11436121
[PubMed - indexed for MEDLINE]
Free Article
20.

Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.

Yatsuki H, Watanabe H, Hattori M, Joh K, Soejima H, Komoda H, Xin Z, Zhu X, Higashimoto K, Nishimura M, Kuratomi S, Sasaki H, Sakaki Y, Mukai T.

DNA Res. 2000 Jun 30;7(3):195-206.

PMID:
10907850
[PubMed - indexed for MEDLINE]
Free Article

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