An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis-Reference-Cited by-同舟云学术

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An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis

Published:2013-02 Issue:2 Volume:77 Page:298-302
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Yoshimura Hidekane,Iwasaki Satoshi,Kanda Yukihiko,Nakanishi Hiroshi,Murata Toshinori,Iwasa Yoh-ichiro,Nishio Shin-ya,Takumi Yutaka,Usami Shin-ichi

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference25 articles.

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

2. Usher syndrome: an otoneurologic study;Moller;Laryngoscope,1989

3. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children;Kimberling;Genet. Med.,2010

4. Defective myosin VIIA gene responsible for Usher syndrome type 1B;Weil;Nature,1995

5. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C;Verpy;Nat. Genet.,2000

Cited by 10 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. A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan;Acta Oto-Laryngologica;2021-08-27

2. 難聴の個別化医療を目指して : Toward Personalized Medicine of Deafness;Nippon Jibiinkoka Gakkai Kaiho;2021-02-20

3. Cochlear Implantation From the Perspective of Genetic Background;The Anatomical Record;2020-02-06

4. MYO7A;Retinal Dystrophy Gene Atlas;2018

5. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andPEX26mutated in Heimler syndrome;Molecular Genetics & Genomic Medicine;2017-07-06

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