Literature DB >> 12446397

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

Y Hatsukawa1, T Nakao, T Yamagishi, N Okamoto, Y Isashiki.   

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Year:  2002        PMID： 12446397      PMCID： PMC1771415          DOI： 10.1136/bjo.86.12.1452

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


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  7 in total

1.  Norrie disease. Diagnosis of a simplex case by DNA analysis.

Authors:  E W Chynn; D S Walton; L B Hahn; T P Dryja
Journal:  Arch Ophthalmol       Date:  1996-09

2.  Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous.

Authors:  S D Pendergast; M T Trese; X Liu; B S Shastry
Journal:  Arch Ophthalmol       Date:  1998-03

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

Authors:  Y Isashiki; N Ohba; T Yanagita; N Hokita; Y Hotta; M Hayakawa; K Fujiki; U Tanabe
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

4.  Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

Authors:  B S Shastry; S D Pendergast; M K Hartzer; X Liu; M T Trese
Journal:  Arch Ophthalmol       Date:  1997-05

Review 5.  Coats' disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT.

Authors:  D P Edward; M F Mafee; E Garcia-Valenzuela; R A Weiss
Journal:  Radiol Clin North Am       Date:  1998-11       Impact factor: 2.303

6.  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

7.  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
  7 in total
  5 in total

1.  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

Review 2.  MRI of retinoblastoma.

Authors:  A A K A Razek; S Elkhamary
Journal:  Br J Radiol       Date:  2011-09       Impact factor: 3.039

Review 3.  Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Authors:  James Wawrzynski; Aara Patel; Abdul Badran; Isaac Dowell; Robert Henderson; Jane C Sowden
Journal:  Front Genet       Date:  2022-05-16       Impact factor: 4.772

4.  G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.

Authors:  Rustam Azimov; Natalia Abuladze; Pakan Sassani; Debra Newman; Liyo Kao; Weixin Liu; Nicholas Orozco; Piotr Ruchala; Alexander Pushkin; Ira Kurtz
Journal:  Am J Physiol Renal Physiol       Date:  2008-07-09

5.  Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.

Authors:  Seyedmehdi Payabvash; Jill S Anderson; David R Nascene
Journal:  Neuroradiol J       Date:  2015-10-12
  5 in total

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