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Results: 1 to 20 of 228

1.

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]
2.

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.

PMID:
11751681
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
11106355
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
9152830
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
11436121
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
10712200
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.

Genomics. 2001 Jun 15;74(3):370-6. Erratum in: Genomics 2001 Sep;77(1-2):115.

PMID:
11414765
[PubMed - indexed for MEDLINE]
8.

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.

Hum Mol Genet. 2001 Mar 1;10(5):467-76.

PMID:
11181570
[PubMed - indexed for MEDLINE]
Free Article
9.

Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.

Robbins KM, Chen Z, Wells KD, Rivera RM.

J Biomed Sci. 2012 Nov 15;19:95. doi: 10.1186/1423-0127-19-95.

PMID:
23153226
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.

Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP.

Am J Hum Genet. 1997 Aug;61(2):304-9.

PMID:
9311734
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER.

J Med Genet. 1999 Jul;36(7):518-23.

PMID:
10424811
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
13.

Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.

Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R.

Genomics. 2000 May 1;65(3):234-42.

PMID:
10857747
[PubMed - indexed for MEDLINE]
14.

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]
15.

Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER.

Hum Mol Genet. 1994 Aug;3(8):1297-301.

PMID:
7987305
[PubMed - indexed for MEDLINE]
16.

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.

J Am Soc Nephrol. 2002 Aug;13(8):2077-84.

PMID:
12138139
[PubMed - indexed for MEDLINE]
Free Article
17.

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.

Am J Hum Genet. 2004 Apr;74(4):715-20. Epub 2004 Mar 1.

PMID:
14997421
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.

Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9.

PMID:
20007505
[PubMed - indexed for MEDLINE]
Free Article
19.

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.

Wojdacz TK, Dobrovic A, Algar EM.

Hum Mutat. 2008 Oct;29(10):1255-60. doi: 10.1002/humu.20779.

PMID:
18473334
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
11813134
[PubMed - indexed for MEDLINE]
Free PMC Article

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