Literature DB >> 7795608

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

A Meindl1, B Lorenz, H Achatz, H Hellebrand, P Schmitz-Valckenberg, T Meitinger.   

Abstract

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Year:  1995        PMID： 7795608     DOI： 10.1093/hmg/4.3.489

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

Review 1.  Retinopathy of prematurity: recent advances in our understanding.

Authors:  C M Wheatley; J L Dickinson; D A Mackey; J E Craig; M M Sale
Journal:  Br J Ophthalmol       Date:  2002-06       Impact factor: 4.638

Review 2.  Retinopathy of prematurity: recent advances in our understanding.

Authors:  C M Wheatley; J L Dickinson; D A Mackey; J E Craig; M M Sale
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2002-09       Impact factor: 5.747

3.  Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene.

Authors:  S Dhingra; D J Shears; V Blake; H Stewart; C K Patel
Journal:  Br J Ophthalmol       Date:  2006-10       Impact factor: 4.638

4.  Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

Authors:  Heidi L Rehm; Duan-Sun Zhang; M Christian Brown; Barbara Burgess; Chris Halpin; Wolfgang Berger; Cynthia C Morton; David P Corey; Zheng-Yi Chen
Journal:  J Neurosci       Date:  2002-06-01       Impact factor: 6.167

Review 5.  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

6.  Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Authors:  Giancarlo Iarossi; Matteo Bertelli; Paolo Enrico Maltese; Elena Gusson; Giorgio Marchini; Alice Bruson; Sabrina Benedetti; Sabrina Volpetti; Gino Catena; Luca Buzzonetti; Lucia Ziccardi
Journal:  J Ophthalmol       Date:  2017-07-05       Impact factor: 1.909

7.  Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity.

Authors:  J Edy Siswanto; Sudarto Ronoatmodjo; Rita S Sitorus; Ag Soemantri; Iswari Setijaningsih; Pieter J J Sauer
Journal:  BMJ Open Ophthalmol       Date:  2019-02-27

8.  Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.

Authors:  Hannah Joyce; Louise M Burmeister; Hattie Wright; Lorraine Fleming; James A C Oliver; Cathryn Mellersh
Journal:  PLoS One       Date:  2021-05-04       Impact factor: 3.752

9.  Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation.

Authors:  Haijun Li; Zhiming Li; Degang Wang; Chuanming Chen; Zhiqiang Chen; Jinhua Wang; Chenxia Xu; Xingsheng Dong
Journal:  Front Genet       Date:  2022-08-12       Impact factor: 4.772

10.  Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon.

Authors:  Anna I Vickrey; Rebecca Bruders; Zev Kronenberg; Emma Mackey; Ryan J Bohlender; Emily T Maclary; Raquel Maynez; Edward J Osborne; Kevin P Johnson; Chad D Huff; Mark Yandell; Michael D Shapiro
Journal:  Elife       Date:  2018-07-17       Impact factor: 8.140
  10 in total

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