These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. Zollino M; Orteschi D; Marangi G; De Crescenzo A; Pecile V; Riccio A; Neri G J Med Genet; 2010 Jun; 47(6):429-32. PubMed ID: 19843502 [TBL] [Abstract][Full Text] [Related]
5. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Gardiner K; Chitayat D; Choufani S; Shuman C; Blaser S; Terespolsky D; Farrell S; Reiss R; Wodak S; Pu S; Ray PN; Baskin B; Weksberg R Am J Med Genet A; 2012 Jun; 158A(6):1388-94. PubMed ID: 22585446 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS). Janchevska A; Tasic V; Laban N; Polenakovic M; Gucev Z; Bachmann N; Bergmann C Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2018 Dec; 39(2-3):131-135. PubMed ID: 30864369 [TBL] [Abstract][Full Text] [Related]
8. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome. Pappas JG Curr Probl Pediatr Adolesc Health Care; 2015 Apr; 45(4):112-7. PubMed ID: 25861997 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith-Wiedemann syndrome. Sun F; Hara S; Tomita C; Tanoue Y; Yatsuki H; Higashimoto K; Soejima H Am J Med Genet A; 2021 Oct; 185(10):3062-3067. PubMed ID: 34037318 [TBL] [Abstract][Full Text] [Related]
11. Proposal for Practical Approach in Prenatal Diagnosis of Beckwith-Wiedemann Syndrome and Review of the Literature. Ma GC; Chen TH; Wu WJ; Lee DJ; Lin WH; Chen M Diagnostics (Basel); 2022 Jul; 12(7):. PubMed ID: 35885613 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation. Le Caignec C; Gicquel C; Gubler MC; Guyot C; You MC; Laurent A; Joubert M; Winer N; David A; Rival JM Prenat Diagn; 2004 Mar; 24(3):165-8. PubMed ID: 15057946 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. Mussa A; Molinatto C; Baldassarre G; Riberi E; Russo S; Larizza L; Riccio A; Ferrero GB J Pediatr; 2016 Sep; 176():142-149.e1. PubMed ID: 27372391 [TBL] [Abstract][Full Text] [Related]
17. Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene. Jurkiewicz D; Skórka A; Ciara E; Kugaudo M; Pelc M; Chrzanowska K; Krajewska-Walasek M Clin Dysmorphol; 2020 Jan; 29(1):28-34. PubMed ID: 31804259 [TBL] [Abstract][Full Text] [Related]
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; 19(5):803-14. PubMed ID: 20007505 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Brioude F; Lacoste A; Netchine I; Vazquez MP; Auber F; Audry G; Gauthier-Villars M; Brugieres L; Gicquel C; Le Bouc Y; Rossignol S Horm Res Paediatr; 2013; 80(6):457-65. PubMed ID: 24335096 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]