Evidence for anticipation in Beckwith–Wiedemann syndrome-Reference-Cited by-同舟云学术

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Evidence for anticipation in Beckwith–Wiedemann syndrome

Published:2013-04-10 Issue:12 Volume:21 Page:1344-1348
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Berland Siren,Appelbäck Mia,Bruland Ove,Beygo Jasmin,Buiting Karin,Mackay Deborah J G,Karen Temple I,Houge Gunnar

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201371.pdf

Reference15 articles.

1. Weksberg R, Shuman C, Beckwith JB : Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18: 8–14.

2. Choufani S, Shuman C, Weksberg R : Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010; 154C: 343–354.

3. Poole RL, Leith DJ, Docherty LE et al: Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur J Hum Genet 2012; 20: 240–243.

4. De Crescenzo A, Coppola F, Falco P et al: A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. Eur J Med Genet 2011; 54: e451–e454.

5. Riccio A, Sparago A, Verde G et al: Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. Endocr Dev 2009; 14: 1–9.

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1. Identification of the sequences responsible for maternalH19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth in mice;2024-07-10

2. Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants;American Journal of Medical Genetics Part A;2024-06

3. Imprinting disorders;Nature Reviews Disease Primers;2023-06-29

4. Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping;American Journal of Medical Genetics Part A;2022-11-02

5. Recurrent small deletions inKCNQ1OT1: a challenge for pathogenicity prediction;Journal of Medical Genetics;2022-06-30

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