Literature DB >> 15689455

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, A J Griffith.   

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Year:  2005        PMID： 15689455      PMCID： PMC1735974          DOI： 10.1136/jmg.2004.024208

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  84 in total

1.  Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Authors:  Shasha Huang; Dongyi Han; Yongyi Yuan; Guojian Wang; Dongyang Kang; Xin Zhang; Xiaofei Yan; Xiaoxiao Meng; Min Dong; Pu Dai
Journal:  J Transl Med       Date:  2011-09-30       Impact factor: 5.531

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.  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

4.  [Large endolymphatic duct and sac syndrome : part 2: clinical manifestations].

Authors:  S Bartel-Friedrich; M Fuchs; B Amaya; C Rasinski; S Meuret; S Kösling
Journal:  HNO       Date:  2008-02       Impact factor: 1.284

5.  [Large endolymphatic duct and sac syndrome (LEDS) : part I: analysis of imaging findings].

Authors:  S Bartel-Friedrich; B Amaya; C Rasinski; M Fuchs; S Kösling
Journal:  HNO       Date:  2008-02       Impact factor: 1.284

6.  De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.

Authors:  Isabelle Schrauwen; Elina Kari; Jacob Mattox; Lorida Llaci; Joanna Smeeton; Marcus Naymik; David W Raible; James A Knowles; J Gage Crump; Matthew J Huentelman; Rick A Friedman
Journal:  Hum Genet       Date:  2018-06-28       Impact factor: 4.132

7.  Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.

Authors:  Amiel A Dror; Danielle R Lenz; Shaked Shivatzki; Keren Cohen; Osnat Ashur-Fabian; Karen B Avraham
Journal:  Mamm Genome       Date:  2014-04-24       Impact factor: 2.957

8.  Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Authors:  Pu Dai; Yongyi Yuan; Deliang Huang; Xiuhui Zhu; Fei Yu; Dongyang Kang; Huijun Yuan; Bailin Wu; Dongyi Han; Lee-Jun C Wong
Journal:  J Transl Med       Date:  2008-11-30       Impact factor: 5.531

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.  Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Authors:  Yongyi Yuan; Yiwen You; Deliang Huang; Jinghong Cui; Yong Wang; Qiang Wang; Fei Yu; Dongyang Kang; Huijun Yuan; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2009-09-10       Impact factor: 5.531
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