Literature DB >> 9500541

A mutation in PDS causes non-syndromic recessive deafness.

X C Li, L A Everett, A K Lalwani, D Desmukh, T B Friedman, E D Green, E R Wilcox.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9500541     DOI： 10.1038/ng0398-215

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  73 in total

1.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors:  K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Authors:  Julie A Muskett; Parna Chattaraj; John F Heneghan; Fabian R Reimold; Boris E Shmukler; Carmen C Brewer; Kelly A King; Christopher K Zalewski; Thomas H Shawker; John A Butman; Margaret A Kenna; Wade W Chien; Seth L Alper; Andrew J Griffith
Journal:  Laryngoscope       Date:  2015-10-20       Impact factor: 3.325

3.  A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

Authors:  Rehan Sadiq Shaikh; Khushnooda Ramzan; Sabiha Nazli; Sameera Sattar; Shaheen N Khan; Saima Riazuddin; Zubair M Ahmed; Thomas B Friedman; Sheikh Riazuddin
Journal:  Am J Med Genet A       Date:  2005-11-01       Impact factor: 2.802

4.  Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Authors:  Tao Yang; Hilmar Vidarsson; Sandra Rodrigo-Blomqvist; Sally S Rosengren; Sven Enerback; Richard J H Smith
Journal:  Am J Hum Genet       Date:  2007-04-23       Impact factor: 11.025

5.  Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Authors:  Ghazanfar Ali; Kwanghyuk Lee; Paula B Andrade; Sulman Basit; Regie Lyn P Santos-Cortez; Leon Chen; Musharraf Jelani; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
Journal:  Hum Hered       Date:  2011-07-06       Impact factor: 0.444

6.  Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Authors:  Jie Qing; Yuan Zhou; Ruosha Lai; Peng Hu; Yan Ding; Weijing Wu; Zian Xiao; Phi T Ho; Yuyuan Liu; Jia Liu; Lilin Du; Denise Yan; Bradley J Goldstein; Xuezhong Liu; Dinghua Xie
Journal:  Genet Test Mol Biomarkers       Date:  2015-01

7.  Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Authors:  Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J H Smith; Fereydoun Azizi; Hossein Najmabadi
Journal:  Eur J Pediatr       Date:  2008-09-24       Impact factor: 3.183

8.  Expression of epithelial calcium transport system in rat cochlea and vestibular labyrinth.

Authors:  Daisuke Yamauchi; Kazuhiro Nakaya; Nithya N Raveendran; Donald G Harbidge; Ruchira Singh; Philine Wangemann; Daniel C Marcus
Journal:  BMC Physiol       Date:  2010-01-29

9.  Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Authors:  Juan Rodriguez-Paris; Lynn Pique; Tahl Colen; Joseph Roberson; Phyllis Gardner; Iris Schrijver
Journal:  PLoS One       Date:  2010-07-26       Impact factor: 3.240

10.  Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

Authors:  Anne C Madeo; Ani Manichaikul; James C Reynolds; Nicholas J Sarlis; Shannon P Pryor; Thomas H Shawker; Andrew J Griffith
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2009-07
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.