Literature DB >> 9382152

Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

I Torrente, M Mangino, M Gennarelli, G Novelli, A Giannotti, P Vadalà, B Dallapiccola.   

Abstract

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Year:  1997        PMID： 9382152     DOI： 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Authors:  Jaspreet Garcha; Angita Jain; Herjot Atwal; Pavalan Sevlam; Paldeep S Atwal
Journal:  J Pediatr Genet       Date:  2019-10-21

2.  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

3.  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

4.  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
  4 in total

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