Literature DB >> 25189253

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

Muzammil Ahmad Khan1, Verena Rupp, Muhammad Ayaz Khan, Muhammad Pervaiz Khan, Muhammad Ansar, Christian Windpassinger.   

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Year:  2014        PMID： 25189253     DOI： 10.1007/s12041-014-0394-8

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  16 in total

1.  BLAT--the BLAST-like alignment tool.

Authors:  W James Kent
Journal:  Genome Res       Date:  2002-04       Impact factor: 9.043

2.  Exact genetic linkage computations for general pedigrees.

Authors:  M Fishelson; D Geiger
Journal:  Bioinformatics       Date:  2002       Impact factor: 6.937

3.  Embryonic stem cell trials for macular degeneration: a preliminary report.

Authors:  Steven D Schwartz; Jean-Pierre Hubschman; Gad Heilwell; Valentina Franco-Cardenas; Carolyn K Pan; Rosaleen M Ostrick; Edmund Mickunas; Roger Gay; Irina Klimanskaya; Robert Lanza
Journal:  Lancet       Date:  2012-01-24       Impact factor: 79.321

4.  Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment.

Authors:  Jason S Meyer; Sara E Howden; Kyle A Wallace; Amelia D Verhoeven; Lynda S Wright; Elizabeth E Capowski; Isabel Pinilla; Jessica M Martin; Shulan Tian; Ron Stewart; Bikash Pattnaik; James A Thomson; David M Gamm
Journal:  Stem Cells       Date:  2011-08       Impact factor: 6.277

5.  Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Authors:  Xia Wang; Hui Wang; Ming Cao; Zhe Li; Xianfeng Chen; Claire Patenia; Athurva Gore; Emad B Abboud; Ali A Al-Rajhi; Richard A Lewis; James R Lupski; Graeme Mardon; Kun Zhang; Donna Muzny; Richard A Gibbs; Rui Chen
Journal:  Hum Mutat       Date:  2011-09-23       Impact factor: 4.878

6.  A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Authors:  Sibel A Ugur Iseri; Yusuf K Durlu; Aslihan Tolun
Journal:  Eur J Hum Genet       Date:  2010-06-02       Impact factor: 4.246

Review 7.  Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Authors:  Daniel C Chung; Elias I Traboulsi
Journal:  J AAPOS       Date:  2009-12       Impact factor: 1.220

8.  Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat.

Authors:  Amanda-Jayne Carr; Anthony A Vugler; Sherry T Hikita; Jean M Lawrence; Carlos Gias; Li Li Chen; David E Buchholz; Ahmad Ahmado; Ma'ayan Semo; Matthew J K Smart; Shazeen Hasan; Lyndon da Cruz; Lincoln V Johnson; Dennis O Clegg; Pete J Coffey
Journal:  PLoS One       Date:  2009-12-03       Impact factor: 3.240

9.  Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas.

Authors:  X Liu; K Seno; Y Nishizawa; F Hayashi; A Yamazaki; H Matsumoto; T Wakabayashi; J Usukura
Journal:  Exp Eye Res       Date:  1994-12       Impact factor: 3.467

10.  Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Authors:  Veronique B D Kitiratschky; Robert Wilke; Agnes B Renner; Ulrich Kellner; Maria Vadalà; David G Birch; Bernd Wissinger; Eberhart Zrenner; Susanne Kohl
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-05-16       Impact factor: 4.799
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