Unresolved questions regarding human hereditary deafness-Reference-Cited by-同舟云学术

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Unresolved questions regarding human hereditary deafness

Published:2016-07-11 Issue:5 Volume:23 Page:551-558
ISSN:1354-523X
Container-title:Oral Diseases
language:en
Short-container-title:Oral Dis

Author:

Rehman AU¹,Friedman TB¹,Griffith AJ²

Affiliation:

1. Laboratory of Molecular Genetics; National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda MD USA

2. Otolaryngology Branch; National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda MD USA

Funder

National Institute on Deafness and Other Communication Disorders

National Institutes of Health

Publisher

Wiley

Subject

General Dentistry,Otorhinolaryngology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/odi.12516/fullpdf

Reference73 articles.

1. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation;Abou Tayoun;Genet Med,2015

2. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation;Afawi;Epilepsy Res,2013

3. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F;Ahmed;Am J Hum Genet,2001

4. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23;Ahmed;Hum Mol Genet,2003

5. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3;Ali;Clin Genet,2012

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1. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss;Human Genetics;2024-03

2. LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL);Human Genomics;2023-12-14

3. PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss;2023-10-09

4. Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review;Frontiers in Genetics;2023-09-07

5. The applications of targeted delivery for gene therapies in hearing loss;Journal of Drug Targeting;2023-06

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