255 related articles for article (PubMed ID: 30473558)
21. Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
Ganaha A; Kaname T; Yanagi K; Naritomi K; Tono T; Usami S; Suzuki M
BMC Med Genet; 2013 May; 14():56. PubMed ID: 23705809
[TBL] [Abstract][Full Text] [Related]
22. Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Chen K; Zong L; Liu M; Wang X; Zhou W; Zhan Y; Cao H; Dong C; Tang H; Jiang H
J Transl Med; 2014 Mar; 12():64. PubMed ID: 24612839
[TBL] [Abstract][Full Text] [Related]
23. Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
Song MH; Shin JW; Park HJ; Lee KA; Kim Y; Kim UK; Jeon JH; Choi JY
Laryngoscope; 2014 May; 124(5):E194-202. PubMed ID: 24338212
[TBL] [Abstract][Full Text] [Related]
24. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
Reyes S; Wang G; Ouyang X; Han B; Du LL; Yuan HJ; Yan D; Dai P; Liu XZ
Otolaryngol Head Neck Surg; 2009 Oct; 141(4):502-8. PubMed ID: 19786220
[TBL] [Abstract][Full Text] [Related]
25. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
Yang T; Vidarsson H; Rodrigo-Blomqvist S; Rosengren SS; Enerback S; Smith RJ
Am J Hum Genet; 2007 Jun; 80(6):1055-63. PubMed ID: 17503324
[TBL] [Abstract][Full Text] [Related]
26. Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
Yuan Y; Guo W; Tang J; Zhang G; Wang G; Han M; Zhang X; Yang S; He DZ; Dai P
PLoS One; 2012; 7(11):e49984. PubMed ID: 23185506
[TBL] [Abstract][Full Text] [Related]
27. Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Liu Y; Wen J; Sang S; Mei L; He C; Jiang L; Huang S; Feng Y
Eur Arch Otorhinolaryngol; 2020 Dec; 277(12):3331-3339. PubMed ID: 32447495
[TBL] [Abstract][Full Text] [Related]
28. Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct.
Yu Y; Yang Y; Lu J; Jin Y; Yang Y; Hong E; Shi J; Chen F; Han S; Chu P; Guo Y; Ni X
Clin Exp Otorhinolaryngol; 2019 Feb; 12(1):50-57. PubMed ID: 30086623
[TBL] [Abstract][Full Text] [Related]
29. The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
Yu K; Liu X; Yang B
Eur Arch Otorhinolaryngol; 2024 Feb; 281(2):649-654. PubMed ID: 37477685
[TBL] [Abstract][Full Text] [Related]
30. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
Yang T; Gurrola JG; Wu H; Chiu SM; Wangemann P; Snyder PM; Smith RJ
Am J Hum Genet; 2009 May; 84(5):651-7. PubMed ID: 19426954
[TBL] [Abstract][Full Text] [Related]
31. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
Dai P; Yuan Y; Huang D; Zhu X; Yu F; Kang D; Yuan H; Wu B; Han D; Wong LJ
J Transl Med; 2008 Nov; 6():74. PubMed ID: 19040761
[TBL] [Abstract][Full Text] [Related]
32. Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.
Okamoto Y; Mutai H; Nakano A; Arimoto Y; Sugiuchi T; Masuda S; Morimoto N; Sakamoto H; Ogahara N; Takagi A; Taiji H; Kaga K; Ogawa K; Matsunaga T
Laryngoscope; 2014 Apr; 124(4):E134-40. PubMed ID: 24105851
[TBL] [Abstract][Full Text] [Related]
33. [Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct].
Xiang Y; Li H; Xu X; Xu C; Chen C; Lin X; Tang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):336-341. PubMed ID: 28604950
[TBL] [Abstract][Full Text] [Related]
34. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
Miyagawa M; Nishio SY; Usami S;
J Hum Genet; 2014 May; 59(5):262-8. PubMed ID: 24599119
[TBL] [Abstract][Full Text] [Related]
35. [The analysis of mutations in non-syndromic deafness gene SLC26A4 by next generation sequencing technology].
Chai F; Zhao HL; Han XD
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Apr; 33(4):357-361. PubMed ID: 30970410
[No Abstract] [Full Text] [Related]
36. Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome.
Chen K; Zhou W; Zong L; Liu M; Du J; Jiang H
Int J Pediatr Otorhinolaryngol; 2012 Nov; 76(11):1633-6. PubMed ID: 22906308
[TBL] [Abstract][Full Text] [Related]
37. Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Muskett JA; Chattaraj P; Heneghan JF; Reimold FR; Shmukler BE; Brewer CC; King KA; Zalewski CK; Shawker TH; Butman JA; Kenna MA; Chien WW; Alper SL; Griffith AJ
Laryngoscope; 2016 Jul; 126(7):E240-7. PubMed ID: 26485571
[TBL] [Abstract][Full Text] [Related]
38. Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations.
Yao J; Qian X; Bao J; Wei Q; Lu Y; Zheng H; Cao X; Xing G
Sci Rep; 2015 Jun; 5():10831. PubMed ID: 26035154
[TBL] [Abstract][Full Text] [Related]
39. Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Li Q; Zhu QW; Yuan YY; Huang SS; Han DY; Huang DL; Dai P
J Transl Med; 2012 Nov; 10():225. PubMed ID: 23151025
[TBL] [Abstract][Full Text] [Related]
40. Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.
Li Y; Zhu B
Mol Med Rep; 2016 Jul; 14(1):319-24. PubMed ID: 27176802
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
