126 related articles for article (PubMed ID: 8872040)
21. Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH.
Drut RM; Drut R
Am J Med Genet; 1996 Mar; 62(2):145-9. PubMed ID: 8882394
[TBL] [Abstract][Full Text] [Related]
22. Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
Kaltenbach S; Capri Y; Rossignol S; Denjoy I; Soudée S; Aboura A; Baumann C; Verloes A
Clin Genet; 2013 Jul; 84(1):78-81. PubMed ID: 23061425
[TBL] [Abstract][Full Text] [Related]
23. 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Jurkiewicz D; Kugaudo M; Tańska A; Wawrzkiewicz-Witkowska A; Tomaszewska A; Kucharczyk M; Cieślikowska A; Ciara E; Krajewska-Walasek M
Pediatr Int; 2015 Jun; 57(3):486-91. PubMed ID: 26012727
[TBL] [Abstract][Full Text] [Related]
24. Characterization of the breakpoints in unbalanced t(5;11)(p15;p15) constitutional chromosome translocations in two patients with beckwith-wiedemann syndrome using fluorescence in situ hybridisation.
Grundy RG; Aledo R; Cowell JK
Int J Mol Med; 1998 May; 1(5):801-8. PubMed ID: 9852299
[TBL] [Abstract][Full Text] [Related]
25. De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.
Wang Q; Geng Q; Zhou Q; Luo F; Li P; Xie J
Mol Cytogenet; 2017; 10():46. PubMed ID: 29270226
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 28040139
[TBL] [Abstract][Full Text] [Related]
27. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Keren B; Chantot-Bastaraud S; Brioude F; Mach C; Fonteneau E; Azzi S; Depienne C; Brice A; Netchine I; Le Bouc Y; Siffroi JP; Rossignol S
Eur J Med Genet; 2013 Oct; 56(10):546-50. PubMed ID: 23892181
[TBL] [Abstract][Full Text] [Related]
28. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
Smith AC; Shuman C; Chitayat D; Steele L; Ray PN; Bourgeois J; Weksberg R
Am J Med Genet A; 2007 Dec; 143A(24):3010-5. PubMed ID: 18000906
[TBL] [Abstract][Full Text] [Related]
29. Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.
Correa ARE; Mishra P; Kabra M; Gupta N
Indian J Pediatr; 2020 Mar; 87(3):175-178. PubMed ID: 31997239
[TBL] [Abstract][Full Text] [Related]
30. Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.
Han JY; Shin JH; Han MS; Je GH; Shaffer LG
J Hum Genet; 2006; 51(7):641-3. PubMed ID: 16708166
[TBL] [Abstract][Full Text] [Related]
31. Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.
Kubota T; Saitoh S; Matsumoto T; Narahara K; Fukushima Y; Jinno Y; Niikawa N
Am J Med Genet; 1994 Feb; 49(4):378-83. PubMed ID: 7909196
[TBL] [Abstract][Full Text] [Related]
32. Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.
Boonen SE; Freschi A; Christensen R; Valente FM; Lildballe DL; Perone L; Palumbo O; Carella M; Uldbjerg N; Sparago A; Riccio A; Cerrato F
Clin Epigenetics; 2016; 8():69. PubMed ID: 27313795
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Demars J; Rossignol S; Netchine I; Lee KS; Shmela M; Faivre L; Weill J; Odent S; Azzi S; Callier P; Lucas J; Dubourg C; Andrieux J; Le Bouc Y; El-Osta A; Gicquel C
Hum Mutat; 2011 Oct; 32(10):1171-82. PubMed ID: 21780245
[TBL] [Abstract][Full Text] [Related]
35. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.
Gaston V; Le Bouc Y; Soupre V; Vazquez MP; Gicquel C
Horm Res; 2000; 54(1):1-5. PubMed ID: 11182628
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.
Tong CC; Duffy KA; Chu DI; Weiss DA; Srinivasan AK; Canning DA; Kalish JM
Urology; 2017 Feb; 100():224-227. PubMed ID: 27614119
[TBL] [Abstract][Full Text] [Related]
38. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B; Kabaçam S; Taşkıran E; Şimşek-Kiper PÖ; Alanay Y; Boduroğlu K; Utine GE
Turk J Pediatr; 2018; 60(5):506-513. PubMed ID: 30968633
[TBL] [Abstract][Full Text] [Related]
39. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I
Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 12138139
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
