Literature DB >> 9634506

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

R E Kelsell, K Gregory-Evans, C Y Gregory-Evans, G E Holder, M R Jay, B H Weber, A T Moore, A C Bird, D M Hunt.   

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Year:  1998        PMID: 9634506      PMCID: PMC1377229          DOI: 10.1086/301905

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  16 in total

1.  A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

Authors:  Qin-Kang Lu; Na Zhao; Ya-Su Lv; Wei-Kun Gong; Hui-Yun Wang; Qi-Hu Tong; Xiao-Ming Lai; Rong-Rong Liu; Ming-Yan Fang; Jian-Guo Zhang; Zhen-Fang Du; Xian-Ning Zhang
Journal:  Int J Ophthalmol       Date:  2015-12-18       Impact factor: 1.779

2.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Authors:  Muhammad Ismail; Aiysha Abid; Khalid Anwar; S Qasim Mehdi; Shagufta Khaliq
Journal:  J Hum Genet       Date:  2006-08-03       Impact factor: 3.172

Review 4.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

5.  A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.

Authors:  Z Yang; G Kitsos; Z Tong; M Payne; S Gorezis; K Psilas; M Grigoriadou; Y Zhao; S Kamaya; G Aperis; M B Petersen; K Zhang
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

6.  A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Authors:  M Michaelides; G E Holder; D M Hunt; F W Fitzke; A C Bird; A T Moore
Journal:  Br J Ophthalmol       Date:  2005-02       Impact factor: 4.638

Review 7.  Guanylate cyclases and associated activator proteins in retinal disease.

Authors:  David M Hunt; Prateek Buch; Michel Michaelides
Journal:  Mol Cell Biochem       Date:  2009-11-26       Impact factor: 3.396

8.  Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.

Authors:  Takafumi Miki; Shigeki Kiyonaka; Yoshitsugu Uriu; Michel De Waard; Minoru Wakamori; Aaron M Beedle; Kevin P Campbell; Yasuo Mori
Journal:  Channels (Austin)       Date:  2007-06-29       Impact factor: 2.581

9.  Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

Authors:  Shahrokh C Khani; Athanasios J Karoukis; Joyce E Young; Rajesh Ambasudhan; Tracy Burch; Richard Stockton; Richard Alan Lewis; Lori S Sullivan; Stephen P Daiger; Elias Reichel; Radha Ayyagari
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-08       Impact factor: 4.799

10.  Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Authors:  P J Francis; S Johnson; B Edmunds; R E Kelsell; E Sheridan; C Garrett; G E Holder; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-07       Impact factor: 4.638

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