508 related articles for article (PubMed ID: 27650505)
1. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
Bachmann N; Crazzolara R; Bohne F; Kotzot D; Maurer K; Enklaar T; Prawitt D; Bergmann C
Pediatr Blood Cancer; 2017 Mar; 64(3):. PubMed ID: 27650505
[TBL] [Abstract][Full Text] [Related]
2. A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
Fryssira H; Amenta S; Kanber D; Sofocleous C; Lykopoulou E; Kanaka-Gantenbein C; Cerrato F; Lüdecke HJ; Bens S; Riccio A; Buiting K
BMC Med Genet; 2015 May; 16():30. PubMed ID: 25943194
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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; 19(5):803-14. PubMed ID: 20007505
[TBL] [Abstract][Full Text] [Related]
7. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
Prawitt D; Enklaar T; Gärtner-Rupprecht B; Spangenberg C; Oswald M; Lausch E; Schmidtke P; Reutzel D; Fees S; Lucito R; Korzon M; Brozek I; Limon J; Housman DE; Pelletier J; Zabel B
Proc Natl Acad Sci U S A; 2005 Mar; 102(11):4085-90. PubMed ID: 15743916
[TBL] [Abstract][Full Text] [Related]
8. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Abi Habib W; Azzi S; Brioude F; Steunou V; Thibaud N; Das Neves C; Le Jule M; Chantot-Bastaraud S; Keren B; Lyonnet S; Michot C; Rossi M; Pasquier L; Gicquel C; Rossignol S; Le Bouc Y; Netchine I
Hum Mol Genet; 2014 Nov; 23(21):5763-73. PubMed ID: 24916376
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.
Higashimoto K; Jozaki K; Kosho T; Matsubara K; Fuke T; Yamada D; Yatsuki H; Maeda T; Ohtsuka Y; Nishioka K; Joh K; Koseki H; Ogata T; Soejima H
Clin Genet; 2014 Dec; 86(6):539-44. PubMed ID: 24299031
[TBL] [Abstract][Full Text] [Related]
11. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 11106355
[TBL] [Abstract][Full Text] [Related]
13. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
Sparago A; Cerrato F; Vernucci M; Ferrero GB; Silengo MC; Riccio A
Nat Genet; 2004 Sep; 36(9):958-60. PubMed ID: 15314640
[TBL] [Abstract][Full Text] [Related]
14. Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R; Squire JA
Med Pediatr Oncol; 1996 Nov; 27(5):462-9. PubMed ID: 8827075
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Sparago A; Russo S; Cerrato F; Ferraiuolo S; Castorina P; Selicorni A; Schwienbacher C; Negrini M; Ferrero GB; Silengo MC; Anichini C; Larizza L; Riccio A
Hum Mol Genet; 2007 Feb; 16(3):254-64. PubMed ID: 17158821
[TBL] [Abstract][Full Text] [Related]
18. A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
De Crescenzo A; Coppola F; Falco P; Bernardo I; Ausanio G; Cerrato F; Falco L; Riccio A
Eur J Med Genet; 2011; 54(4):e451-4. PubMed ID: 21571108
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
