Literature DB >> 10675349

Beckwith-Wiedemann syndrome: imprinting in clusters revisited.

E R Maher1, W Reik.   

Abstract

Entities:  

Mesh：

Year:  2000        PMID： 10675349      PMCID： PMC517490          DOI： 10.1172/JCI9340

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


× No keyword cloud information.
  32 in total

Review 1.  DNA methylation and chromatin modification.

Authors:  H H Ng; A Bird
Journal:  Curr Opin Genet Dev       Date:  1999-04       Impact factor: 5.578

2.  Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.

Authors:  M P Lee; M R DeBaun; K Mitsuya; H L Galonek; S Brandenburg; M Oshimura; A P Feinberg
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

3.  A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline.

Authors:  R M John; M Hodges; P Little; S C Barton; M A Surani
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

4.  A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

Authors:  N J Smilinich; C D Day; G V Fitzpatrick; G M Caldwell; A C Lossie; P R Cooper; A C Smallwood; J A Joyce; P N Schofield; W Reik; R D Nicholls; R Weksberg; D J Driscoll; E R Maher; T B Shows; M J Higgins
Journal:  Proc Natl Acad Sci U S A       Date:  1999-07-06       Impact factor: 11.205

5.  Enhancer competition between H19 and Igf2 does not mediate their imprinting.

Authors:  J V Schmidt; J M Levorse; S M Tilghman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-17       Impact factor: 11.205

6.  Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Authors:  W W Lam; I Hatada; S Ohishi; T Mukai; J A Joyce; T R Cole; D Donnai; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

7.  Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.

Authors:  Z A Bhuiyan; H Yatsuki; T Sasaguri; K Joh; H Soejima; X Zhu; I Hatada; H Morisaki; T Morisaki; T Mukai
Journal:  Hum Genet       Date:  1999-03       Impact factor: 4.132

8.  Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

Authors:  J A Joyce; W K Lam; D J Catchpoole; P Jenks; W Reik; E R Maher; P N Schofield
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150

9.  Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting.

Authors:  M P Lee; S Brandenburg; G M Landes; M Adams; G Miller; A P Feinberg
Journal:  Hum Mol Genet       Date:  1999-04       Impact factor: 6.150

10.  Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.

Authors:  R Weksberg; D R Shen; Y L Fei; Q L Song; J Squire
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330
View more
  59 in total

1.  The two-domain hypothesis in Beckwith-Wiedemann syndrome.

Authors:  A P Feinberg
Journal:  J Clin Invest       Date:  2000-09       Impact factor: 14.808

2.  Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region.

Authors:  Hitomi Yatsuki; Keiichiro Joh; Ken Higashimoto; Hidenobu Soejima; Yuji Arai; Youdong Wang; Izuho Hatada; Yayoi Obata; Hiroko Morisaki; Zhongming Zhang; Tetsuji Nakagawachi; Yuji Satoh; Tsunehiro Mukai
Journal:  Genome Res       Date:  2002-12       Impact factor: 9.043

3.  In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.

Authors:  Christine Gicquel; Véronique Gaston; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Antoine Flahault; Yves Le Bouc
Journal:  Am J Hum Genet       Date:  2003-05       Impact factor: 11.025

4.  The H19 differentially methylated region marks the parental origin of a heterologous locus without gametic DNA methylation.

Authors:  Kye-Yoon Park; Elizabeth A Sellars; Alexander Grinberg; Sing-Ping Huang; Karl Pfeifer
Journal:  Mol Cell Biol       Date:  2004-05       Impact factor: 4.272

5.  Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells.

Authors:  Axel Schumacher; Walter Doerfler
Journal:  Nucleic Acids Res       Date:  2004-03-05       Impact factor: 16.971

6.  A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.

Authors:  E Baple; R Palmer; R C M Hennekam
Journal:  Mol Syndromol       Date:  2010-01-11

7.  Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Authors:  F R Grati; L Turolla; P D'Ajello; A Ruggeri; M Miozzo; G Bracalente; D Baldo; L Laurino; R Boldorini; E Frate; N Surico; L Larizza; F Maggi; G Simoni
Journal:  J Med Genet       Date:  2007-01-26       Impact factor: 6.318

8.  Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.

Authors:  N Diaz-Meyer; Y Yang; S N Sait; E R Maher; M J Higgins
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

9.  The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.

Authors:  Andrea M Allan; Xiaomin Liang; Yuping Luo; Changhui Pak; Xuekun Li; Keith E Szulwach; Dahua Chen; Peng Jin; Xinyu Zhao
Journal:  Hum Mol Genet       Date:  2008-04-01       Impact factor: 6.150

10.  Long-term effect of in vitro culture of mouse embryos with serum on mRNA expression of imprinting genes, development, and behavior.

Authors:  Raúl Fernández-Gonzalez; Pedro Moreira; Ainhoa Bilbao; Adela Jiménez; Miriam Pérez-Crespo; Miguel Angel Ramírez; Fernando Rodríguez De Fonseca; Belén Pintado; Alfonso Gutiérrez-Adán
Journal:  Proc Natl Acad Sci U S A       Date:  2004-04-12       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.