Literature DB >> 10090914

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.

M Villamar, I del Castillo, N Valle, L Romero, F Moreno.   

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Year:  1999        PMID： 10090914      PMCID： PMC1377853          DOI： 10.1086/302321

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Authors:  Lauren J Francey; Laura K Conlin; Hanna E Kadesch; Dinah Clark; Donna Berrodin; Yi Sun; Joe Glessner; Hakon Hakonarson; Chaim Jalas; Chaim Landau; Nancy B Spinner; Margaret Kenna; Michal Sagi; Heidi L Rehm; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2011-12-06       Impact factor: 2.802

Review 2.  Genetic male infertility and mutation of CATSPER ion channels.

Authors:  Michael S Hildebrand; Matthew R Avenarius; Marc Fellous; Yuzhou Zhang; Nicole C Meyer; Jana Auer; Catherine Serres; Kimia Kahrizi; Hossein Najmabadi; Jacques S Beckmann; Richard J H Smith
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

3.  Impaired motor coordination in mice that lack punc.

Authors:  W Yang; C Li; S L Mansour
Journal:  Mol Cell Biol       Date:  2001-09       Impact factor: 4.272

4.  Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Authors:  Carina Frykholm; Joakim Klar; Tatjana Tomanovic; Adam Ameur; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2018-09-24       Impact factor: 4.246

5.  Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

Authors:  Paul Avan; Sébastien Le Gal; Vincent Michel; Typhaine Dupont; Jean-Pierre Hardelin; Christine Petit; Elisabeth Verpy
Journal:  Proc Natl Acad Sci U S A       Date:  2019-11-27       Impact factor: 11.205

6.  Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.

Authors:  Shin-Ya Nishio; Shin-Ichi Usami
Journal:  Sci Rep       Date:  2022-01-12       Impact factor: 4.379
  6 in total

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