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2. A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3. Jiang H; Ping Z; Wang J; Liu X; Jin Y; Li S; Zhou C; Huang P; Jin Y; Ai L; Chen J Mol Cytogenet; 2021 Mar; 14(1):14. PubMed ID: 33658067 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. Heide S; Chantot-Bastaraud S; Keren B; Harbison MD; Azzi S; Rossignol S; Michot C; Lackmy-Port Lys M; Demeer B; Heinrichs C; Newfield RS; Sarda P; Van Maldergem L; Trifard V; Giabicani E; Siffroi JP; Le Bouc Y; Netchine I; Brioude F J Med Genet; 2018 Mar; 55(3):205-213. PubMed ID: 29223973 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Vals MA; Kahre T; Mee P; Muru K; Kallas E; Žilina O; Tillmann V; Õunap K Mol Syndromol; 2015 Sep; 6(3):147-51. PubMed ID: 26732610 [TBL] [Abstract][Full Text] [Related]
9. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report. Lekszas C; Nanda I; Vona B; Böck J; Ashrafzadeh F; Donyadideh N; Ebrahimzadeh F; Ahangari N; Maroofian R; Karimiani EG; Haaf T BMC Med Genomics; 2019 Jun; 12(1):83. PubMed ID: 31174542 [TBL] [Abstract][Full Text] [Related]
10. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]. Krajewska-Walasek M; Gutkowska A; Mospinek-Krasnopolska M; Chrzanowska K Acta Genet Med Gemellol (Roma); 1996; 45(1-2):245-50. PubMed ID: 8872040 [TBL] [Abstract][Full Text] [Related]
11. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465 [TBL] [Abstract][Full Text] [Related]
12. 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. 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]
17. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. Schönherr N; Meyer E; Roos A; Schmidt A; Wollmann HA; Eggermann T J Med Genet; 2007 Jan; 44(1):59-63. PubMed ID: 16963484 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Imprinted disorders and growth. Giabicani É; Brioude F; Le Bouc Y; Netchine I Ann Endocrinol (Paris); 2017 Jun; 78(2):112-113. PubMed ID: 28478949 [TBL] [Abstract][Full Text] [Related]
20. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. Demars J; Gicquel C Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]