605 related articles for article (PubMed ID: 10712200)
1. 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. PubMed ID: 10712200
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11436121
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 11106355
[TBL] [Abstract][Full Text] [Related]
4. 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; 96(14):8064-9. PubMed ID: 10393948
[TBL] [Abstract][Full Text] [Related]
5. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
Lee MP; DeBaun MR; Mitsuya K; Galonek HL; Brandenburg S; Oshimura M; Feinberg AP
Proc Natl Acad Sci U S A; 1999 Apr; 96(9):5203-8. PubMed ID: 10220444
[TBL] [Abstract][Full Text] [Related]
6. 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; 10(26):2989-3000. PubMed ID: 11751681
[TBL] [Abstract][Full Text] [Related]
7. 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; 65(3):234-42. PubMed ID: 10857747
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 9311734
[TBL] [Abstract][Full Text] [Related]
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; 19(1):95. PubMed ID: 23153226
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16825435
[TBL] [Abstract][Full Text] [Related]
11. 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; 10(5):467-76. PubMed ID: 11181570
[TBL] [Abstract][Full Text] [Related]
12. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.
Mitsuya K; Meguro M; Lee MP; Katoh M; Schulz TC; Kugoh H; Yoshida MA; Niikawa N; Feinberg AP; Oshimura M
Hum Mol Genet; 1999 Jul; 8(7):1209-17. PubMed ID: 10369866
[TBL] [Abstract][Full Text] [Related]
13. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
Joyce JA; Lam WK; Catchpoole DJ; Jenks P; Reik W; Maher ER; Schofield PN
Hum Mol Genet; 1997 Sep; 6(9):1543-8. PubMed ID: 9285792
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 14627666
[TBL] [Abstract][Full Text] [Related]
15. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
Brown KW; Villar AJ; Bickmore W; Clayton-Smith J; Catchpoole D; Maher ER; Reik W
Hum Mol Genet; 1996 Dec; 5(12):2027-32. PubMed ID: 8968759
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 9152830
[TBL] [Abstract][Full Text] [Related]
17. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
[TBL] [Abstract][Full Text] [Related]
18. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
Reik W; Maher ER
Trends Genet; 1997 Aug; 13(8):330-4. PubMed ID: 9260520
[TBL] [Abstract][Full Text] [Related]
19. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Cerrato F; Sparago A; Verde G; De Crescenzo A; Citro V; Cubellis MV; Rinaldi MM; Boccuto L; Neri G; Magnani C; D'Angelo P; Collini P; Perotti D; Sebastio G; Maher ER; Riccio A
Hum Mol Genet; 2008 May; 17(10):1427-35. PubMed ID: 18245780
[TBL] [Abstract][Full Text] [Related]
20. Paternal 132 bp deletion affecting
Eggermann T; Kraft F; Lausberg E; Ergezinger K; Kunstmann E
J Med Genet; 2021 Mar; 58(3):173-176. PubMed ID: 32447323
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
