Literature DB >> 7662640

Mutations in the Norrie disease gene: a new mutation in a Japanese family.

Y Isashiki, N Ohba, T Yanagita, N Hokita, Y Hotta, M Hayakawa, K Fujiki, U Tanabe.   

Abstract

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Year:  1995        PMID： 7662640      PMCID： PMC505203          DOI： 10.1136/bjo.79.7.703

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  9 in total

1.  Isolation of a candidate gene for Norrie disease by positional cloning.

Authors:  W Berger; A Meindl; T J van de Pol; F P Cremers; H H Ropers; C Döerner; A Monaco; A A Bergen; R Lebo; M Warburg
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

2.  A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

Authors:  S Fuchs; S Y Xu; M Caballero; M Salcedo; A La O; H Wedemann; A Gal
Journal:  Hum Mol Genet       Date:  1994-04       Impact factor: 6.150

3.  A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Authors:  Z Y Chen; E M Battinelli; A Fielder; S Bundey; K Sims; X O Breakefield; I W Craig
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

4.  Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Authors:  A Meindl; W Berger; T Meitinger; D van de Pol; H Achatz; C Dörner; M Haasemann; H Hellebrand; A Gal; F Cremers
Journal:  Nat Genet       Date:  1992-10       Impact factor: 38.330

Review 5.  Mutations in the candidate gene for Norrie disease.

Authors:  W Berger; D van de Pol; M Warburg; A Gal; L Bleeker-Wagemakers; H de Silva; A Meindl; T Meitinger; F Cremers; H H Ropers
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

6.  Isolation and characterization of a candidate gene for Norrie disease.

Authors:  Z Y Chen; R W Hendriks; M A Jobling; J F Powell; X O Breakefield; K B Sims; I W Craig
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

7.  Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

Authors:  J J Fuentes; V Volpini; F Fernández-Toral; E Coto; X Estivill
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150

8.  Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

Authors:  Y Isashiki; N Ohba; T Yanagita; N Hokita; N Doi; M Nakagawa; M Ozawa; N Kuroda
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

9.  Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.

Authors:  F Wong; M F Goldberg; Y Hao
Journal:  Arch Ophthalmol       Date:  1993-11
  9 in total
  2 in total

1.  Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.

Authors:  Y Hatsukawa; T Nakao; T Yamagishi; N Okamoto; Y Isashiki
Journal:  Br J Ophthalmol       Date:  2002-12       Impact factor: 4.638

2.  Familial cases of Norrie disease detected by copy number analysis.

Authors:  Eisuke Arai; Takuro Fujimaki; Ai Yanagawa; Keiko Fujiki; Toshiyuki Yokoyama; Akihisa Okumura; Toshiaki Shimizu; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2014-07-15       Impact factor: 2.447
  2 in total

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