Literature DB >> 13446668

[New hereditary-familial dystrophy of the corneal parenchyma (spotted hereditary dystrophy)].

J FRANCOIS, A NEETENS.   

Abstract

Entities:  

Keywords:  CORNEA/diseases

Mesh：

Year:  1957        PMID： 13446668

Source DB:  PubMed          Journal:  Bull Soc Belge Ophtalmol        ISSN： 0081-0746


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  6 in total

1.  Bibliography of human genetics.

Authors:  R H POST
Journal:  Am J Hum Genet       Date:  1958-06       Impact factor: 11.025

2.  Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Authors:  Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Béatrice E Frueh; Yuri Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2005-05-18       Impact factor: 11.025

3.  A novel PIKFYVE mutation in fleck corneal dystrophy.

Authors:  Andreas Kotoulas; Haris Kokotas; Konstantinos Kopsidas; Konstantinos Droutsas; Maria Grigoriadou; Hasret Bajrami; Daniel F Schorderet; Michael B Petersen
Journal:  Mol Vis       Date:  2011-10-25       Impact factor: 2.367

4.  Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Authors:  Jessica A Gee; Ricardo F Frausto; Duk-Won D Chung; Chulaluck Tangmonkongvoragul; Derek J Le; Cynthia Wang; Jonathan Han; Anthony J Aldave
Journal:  Mol Vis       Date:  2015-09-17       Impact factor: 2.367

5.  Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Authors:  Andrea L Vincent; David M Markie; Betina De Karolyi; Catherine E Wheeldon; Dipika V Patel; Christina N Grupcheva; Charles N J McGhee
Journal:  Mol Vis       Date:  2009-08-26       Impact factor: 2.367

6.  A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Authors:  Satoshi Kawasaki; Kenta Yamasaki; Hiroko Nakagawa; Katsuhiko Shinomiya; Mina Nakatsukasa; Yoshihide Nakai; Shigeru Kinoshita
Journal:  Mol Vis       Date:  2012-12-12       Impact factor: 2.367
  6 in total

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