Literature DB >> 9475109

Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

K Okamoto, I M Morison, A E Reeve, N Tommerup, H R Wiedemann, U Friedrich.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9475109      PMCID： PMC1051204          DOI： 10.1136/jmg.35.1.86

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  18 in total

1.  Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms.

Authors:  P Grundy; P Telzerow; M C Paterson; D Haber; B Berman; F Li; J Garber
Journal:  Lancet       Date:  1991-10-26       Impact factor: 79.321

2.  Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome.

Authors:  P Zhang; N J Liégeois; C Wong; M Finegold; H Hou; J C Thompson; A Silverman; J W Harper; R A DePinho; S J Elledge
Journal:  Nature       Date:  1997-05-08       Impact factor: 49.962

3.  Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Authors:  I Henry; C Bonaiti-Pellié; V Chehensse; C Beldjord; C Schwartz; G Utermann; C Junien
Journal:  Nature       Date:  1991-06-20       Impact factor: 49.962

Review 4.  How sensitive is PCR-SSCP?

Authors:  K Hayashi; D W Yandell
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

5.  Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

Authors:  A Koufos; P Grundy; K Morgan; K A Aleck; T Hadro; B C Lampkin; A Kalbakji; W K Cavenee
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

6.  Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour.

Authors:  O Ogawa; M R Eccles; J Szeto; L A McNoe; K Yun; M A Maw; P J Smith; A E Reeve
Journal:  Nature       Date:  1993-04-22       Impact factor: 49.962

7.  Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma.

Authors:  S Zhan; D N Shapiro; L J Helman
Journal:  J Clin Invest       Date:  1994-07       Impact factor: 14.808

8.  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

9.  Relaxation of imprinted genes in human cancer.

Authors:  S Rainier; L A Johnson; C J Dobry; A J Ping; P E Grundy; A P Feinberg
Journal:  Nature       Date:  1993-04-22       Impact factor: 49.962

10.  Monoallelic expression of the human H19 gene.

Authors:  Y Zhang; B Tycko
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330
View more
  2 in total

1.  Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Authors:  J R Engel; A Smallwood; A Harper; M J Higgins; M Oshimura; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

2.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.