Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation-Reference-Cited by-同舟云学术

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation

Published:2005-07-25 Issue:3 Volume:68 Page:204-214
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Bernal S,Medà C,Solans T,Ayuso C,Garcia-Sandoval B,Valverde D,Del Rio E,Baiget M

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00481.x/fullpdf

Reference35 articles.

1. Clinical diagnosis of the Usher syndromes. Usher syndrome consortium;Smith;Am J Med Genet,1994

2. Clinical and molecular genetics of Usher syndrome;Kimberling;J Am Acad Audiol,1995

3. Usher syndrome in the city of Birmingham-prevalence and clinical classification;Hope;Br J Ophthalmol,1997

4. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations;Rosenberg;Clin Genet,1997

5. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa;Weston;Am J Hum Genet,2000

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene;CELL J;2024

2. Early audiological phenotype in patients with mutations in the USH2A gene;International Journal of Pediatric Otorhinolaryngology;2022-06

3. Review of Genotype-Phenotype Correlations in Usher Syndrome;Ear & Hearing;2021-05-25

4. Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice;Genes;2020-12-07

5. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome;Clinical Genetics;2020-11-03