Literature DB >> 19787632

The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

Tao Yang, Richard J H Smith.   

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Year:  2009        PMID： 19787632     DOI： 10.1002/humu.21097

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

Authors:  Parna Chattaraj; Tina Munjal; Keiji Honda; Nanna D Rendtorff; Jessica S Ratay; Julie A Muskett; Davide S Risso; Isabelle Roux; E Michael Gertz; Alejandro A Schäffer; Thomas B Friedman; Robert J Morell; Lisbeth Tranebjærg; Andrew J Griffith
Journal:  J Med Genet       Date:  2017-08-05       Impact factor: 6.318

Review 2.  SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Authors:  Taku Ito; Byung Yoon Choi; Kelly A King; Christopher K Zalewski; Julie Muskett; Parna Chattaraj; Thomas Shawker; James C Reynolds; John A Butman; Carmen C Brewer; Philine Wangemann; Seth L Alper; Andrew J Griffith
Journal:  Cell Physiol Biochem       Date:  2011-11-18

Review 3.  Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.

Authors:  Andrew J Griffith; Philine Wangemann
Journal:  Hear Res       Date:  2011-06-06       Impact factor: 3.208

4.  SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.

Authors:  Taku Ito; Julie Muskett; Parna Chattaraj; Byung Yoon Choi; Kyu Yup Lee; Christopher K Zalewski; Kelly A King; Xiangming Li; Philine Wangemann; Thomas Shawker; Carmen C Brewer; Seth L Alper; Andrew J Griffith
Journal:  World J Otorhinolaryngol       Date:  2013-05-28

Review 5.  Unresolved questions regarding human hereditary deafness.

Authors:  A U Rehman; T B Friedman; A J Griffith
Journal:  Oral Dis       Date:  2016-07-11       Impact factor: 3.511
  5 in total

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