Literature DB >> 21274015

A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.

F Beby, K Dieterich, P Calvas.   

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Year:  2011        PMID： 21274015      PMCID： PMC3171272          DOI： 10.1038/eye.2010.234

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  5 in total

1.  Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

Authors:  C C Ton; H Hirvonen; H Miwa; M M Weil; P Monaghan; T Jordan; V van Heyningen; N D Hastie; H Meijers-Heijboer; M Drechsler
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

2.  Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Authors:  T Glaser; D S Walton; R L Maas
Journal:  Nat Genet       Date:  1992-11       Impact factor: 38.330

Review 3.  Aniridia: current pathology and management.

Authors:  Helena Lee; Rizwana Khan; Michael O'Keefe
Journal:  Acta Ophthalmol       Date:  2008-10-06       Impact factor: 3.761

Review 4.  Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

Authors:  A M Hever; K A Williamson; V van Heyningen
Journal:  Clin Genet       Date:  2006-06       Impact factor: 4.438

5.  Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Authors:  Camilo E Villarroel; Cristina Villanueva-Mendoza; Lorena Orozco; Miguel Angel Alcántara-Ortigoza; Diana F Jiménez; Juan C Ordaz; Ariadna González-del Angel
Journal:  Mol Vis       Date:  2008-09-08       Impact factor: 2.367
  5 in total
  5 in total

Review 1.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

2.  [Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].

Authors:  B Käsmann-Kellner; B Seitz
Journal:  Ophthalmologe       Date:  2014-12       Impact factor: 1.059

3.  Eye tracking: empirical foundations for a minimal reporting guideline.

Authors:  Kenneth Holmqvist; Saga Lee Örbom; Ignace T C Hooge; Diederick C Niehorster; Robert G Alexander; Richard Andersson; Jeroen S Benjamins; Pieter Blignaut; Anne-Marie Brouwer; Lewis L Chuang; Kirsten A Dalrymple; Denis Drieghe; Matt J Dunn; Ulrich Ettinger; Susann Fiedler; Tom Foulsham; Jos N van der Geest; Dan Witzner Hansen; Samuel B Hutton; Enkelejda Kasneci; Alan Kingstone; Paul C Knox; Ellen M Kok; Helena Lee; Joy Yeonjoo Lee; Jukka M Leppänen; Stephen Macknik; Päivi Majaranta; Susana Martinez-Conde; Antje Nuthmann; Marcus Nyström; Jacob L Orquin; Jorge Otero-Millan; Soon Young Park; Stanislav Popelka; Frank Proudlock; Frank Renkewitz; Austin Roorda; Michael Schulte-Mecklenbeck; Bonita Sharif; Frederick Shic; Mark Shovman; Mervyn G Thomas; Ward Venrooij; Raimondas Zemblys; Roy S Hessels
Journal:  Behav Res Methods       Date:  2022-04-06

4.  PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.

Authors:  Ying Lin; Xialin Liu; Xuanwei Liang; Baoxin Li; Shuhong Jiang; Shaobi Ye; Huiqin Yang; Bingsheng Lou; Yizhi Liu
Journal:  Mol Vis       Date:  2011-11-26       Impact factor: 2.367

5.  Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.

Authors:  Yang Kang; Ying Lin; Xue Li; Qiong Wu; Lei Huang; Qingjun Li; Qi Hu
Journal:  Mol Vis       Date:  2012-06-27       Impact factor: 2.367
  5 in total

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