Literature DB >> 10090909

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.

X Z Liu, C Hope, C Y Liang, J M Zou, L R Xu, T Cole, R F Mueller, S Bundey, W Nance, K P Steel, S D Brown.   

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Year:  1999        PMID： 10090909      PMCID： PMC1377848          DOI： 10.1086/302332

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


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  31 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.  Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Authors:  C Rivolta; E A Sweklo; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  2000-04-20       Impact factor: 11.025

5.  A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

Authors:  B Dreyer; L Tranebjaerg; V Brox; T Rosenberg; C Möller; M Beneyto; M D Weston; W J Kimberling; C W Cremers; X Z Liu; O Nilssen
Journal:  Am J Hum Genet       Date:  2001-06-08       Impact factor: 11.025

6.  The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Authors:  Elena Aller; Lise Larrieu; Teresa Jaijo; David Baux; Carmen Espinós; Fernando González-Candelas; Carmen Nájera; Francesc Palau; Mireille Claustres; Anne-Françoise Roux; José M Millán
Journal:  Eur J Hum Genet       Date:  2010-02-10       Impact factor: 4.246

7.  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

8.  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

9.  A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats.

Authors:  Nadine Held; Bart M G Smits; Roland Gockeln; Stephanie Schubert; Heike Nave; Emily Northrup; Edwin Cuppen; Hans J Hedrich; Dirk Wedekind
Journal:  PLoS One       Date:  2011-03-29       Impact factor: 3.240

10.  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
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