The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry-Reference-Cited by-同舟云学术

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The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

Published:2014-02 Issue:2 Volume:18 Page:123-126
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Behar Doron M.¹²,Davidov Bella¹,Brownstein Zippora³,Ben-Yosef Tamar⁴,Avraham Karen B.³,Shohat Mordechai¹³

Affiliation:

1. Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.

2. Molecular Medicine Laboratory, Rambam Medical Center, Haifa, Israel.

3. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

4. Department of Genetics, The Rappaport Faculty of Medicine and Research Institute, Technion–Israel Institute of Technology, Haifa, Israel.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2013.0328

Reference10 articles.

1. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

2. Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews

3. Deafness Genes in Israel: Implications for Diagnostics in the Clinic

4. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

5. Genetic testing for hearing loss: Different motivations for the same outcome

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1. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1;Clinical Genetics;2020-08-24

2. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1;2020-06-12

3. Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review;Otology & Neurotology;2020-02

4. The Genetics of Inherited Retinal Diseases in the Israeli and Palestinian Populations: A Lesson from Populations with High Rates of Consanguinity;Essentials in Ophthalmology;2018-11-04

5. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients;BMC Medical Genomics;2018-07-09

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