Literature DB >> 12525556

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

S Bernal1, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, M Baiget.   

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Year:  2003        PMID： 12525556      PMCID： PMC1735247          DOI： 10.1136/jmg.40.1.e8

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  34 in total

Review 1.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

2.  Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Authors:  Gema Garcia-Garcia; Maria J Aparisi; Teresa Jaijo; Regina Rodrigo; Ana M Leon; Almudena Avila-Fernandez; Fiona Blanco-Kelly; Sara Bernal; Rafael Navarro; Manuel Diaz-Llopis; Montserrat Baiget; Carmen Ayuso; Jose M Millan; Elena Aller
Journal:  Orphanet J Rare Dis       Date:  2011-10-17       Impact factor: 4.123

3.  Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Authors:  E Aller; T Jaijo; M Beneyto; C Nájera; S Oltra; C Ayuso; M Baiget; M Carballo; G Antiñolo; D Valverde; F Moreno; C Vilela; D Collado; H Pérez-Garrigues; A Navea; J M Millán
Journal:  J Med Genet       Date:  2006-11       Impact factor: 6.318

4.  Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.

Authors:  Mariana DuPont; Evan M Jones; Mingchu Xu; Rui Chen
Journal:  Ophthalmic Genet       Date:  2017-12-28       Impact factor: 1.803

5.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

6.  Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Authors:  Yan Xu; Liping Guan; Tao Shen; Jianguo Zhang; Xueshan Xiao; Hui Jiang; Shiqiang Li; Jianhua Yang; Xiaoyun Jia; Ye Yin; Xiangming Guo; Jun Wang; Qingjiong Zhang
Journal:  Hum Genet       Date:  2014-06-18       Impact factor: 4.132

7.  Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Authors:  Xiaowen Liu; Zhaohui Tang; Chang Li; Kangjuan Yang; Guanqi Gan; Zibo Zhang; Jingyu Liu; Fagang Jiang; Qing Wang; Mugen Liu
Journal:  Mol Vis       Date:  2010-03-17       Impact factor: 2.367

8.  Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Authors:  Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue-Zhong Liu
Journal:  J Hum Genet       Date:  2009-10-30       Impact factor: 3.172

9.  Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

Authors:  Erwin van Wijk; Ronald J E Pennings; Heleen te Brinke; Annemarie Claassen; Helger G Yntema; Lies H Hoefsloot; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

10.  Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Authors:  Michael A Sandberg; Bernard Rosner; Carol Weigel-DiFranco; Terri L McGee; Thaddeus P Dryja; Eliot L Berson
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-07-18       Impact factor: 4.799
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