202 related articles for article (PubMed ID: 36184087)
1. [Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].
Li J; Kang H; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1080-1084. PubMed ID: 36184087
[TBL] [Abstract][Full Text] [Related]
2. [Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene].
Kang H; Yang K; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):698-702. PubMed ID: 35810424
[TBL] [Abstract][Full Text] [Related]
3. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
[TBL] [Abstract][Full Text] [Related]
4. [Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].
Kang H; Zhao K; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):639-642. PubMed ID: 34247367
[TBL] [Abstract][Full Text] [Related]
5. [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
Li J; Kang H; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1367-1372. PubMed ID: 37906143
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
Liang Y; Peng Q; Wang K; Zhu P; Wu C; Rao C; Chang J; Li S; Lu X
Int J Pediatr Otorhinolaryngol; 2018 Apr; 107():97-100. PubMed ID: 29501320
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of genotypes on 850 newborns with
Huang LH; Zhao XL; Cheng XH; Yu YD; Wen C; Li Y; Wang XL; Wang XY; Ruan Y; En H
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2023 Feb; 58(2):117-125. PubMed ID: 36748152
[No Abstract] [Full Text] [Related]
8. A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X; Peng Q; Li S; Zhu P; Wu C; Rao C; Chang J; Xie M; Zhong B; Lu X
Int J Pediatr Otorhinolaryngol; 2017 Apr; 95():104-108. PubMed ID: 28576516
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.
Zhao X; Cheng X; Huang L; Wang X; Wen C; Wang X
Biosci Trends; 2018; 12(5):502-506. PubMed ID: 30473558
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.
Zhang F; Bai X; Xiao Y; Zhang X; Zhang G; Li J; Xu L; Wang H
Int J Pediatr Otorhinolaryngol; 2016 Jun; 85():75-9. PubMed ID: 27240500
[TBL] [Abstract][Full Text] [Related]
12. [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
Zhang W; Qi N; Guo L; Wang H; Gao Y; Hou Q; Lou G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):966-972. PubMed ID: 37532496
[TBL] [Abstract][Full Text] [Related]
13. A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.
Wu T; Cui L; Mou Y; Guo W; Liu D; Qiu J; Xu C; Zhou J; Han F; Sun Y
BMC Med Genomics; 2022 Mar; 15(1):49. PubMed ID: 35249537
[TBL] [Abstract][Full Text] [Related]
14. Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
Lin YH; Wu CC; Lin YH; Lu YC; Chen CS; Liu TC; Chen PL; Hsu CJ
J Mol Diagn; 2019 Jan; 21(1):138-148. PubMed ID: 30268946
[TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.
He X; Zhao S; Shi L; Lu Y; Yang Y; Zhang X
BMC Med Genomics; 2022 Jul; 15(1):152. PubMed ID: 35804348
[TBL] [Abstract][Full Text] [Related]
16. [Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].
Feng M; Zhou K; Huang L; Tang F; Qu S; Lu Q; Chen R; Li F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):454-457. PubMed ID: 33974254
[TBL] [Abstract][Full Text] [Related]
17. Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
Jang JH; Jung J; Kim AR; Cho YM; Kim MY; Lee SY; Choi JY; Lee JH; Choi BY
Audiol Neurootol; 2014; 19(5):319-26. PubMed ID: 25358692
[TBL] [Abstract][Full Text] [Related]
18. [Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].
Kang H; Zhao K; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):951-954. PubMed ID: 34625930
[TBL] [Abstract][Full Text] [Related]
19. A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y; Wang L; Feng Y; He C; Liu D; Cai X; Jiang L; Chen H; Liu C; Wu H; Mei L
PLoS One; 2016; 11(12):e0168508. PubMed ID: 27997596
[TBL] [Abstract][Full Text] [Related]
20. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene].
Yang K; Zhang Y; Lou G; Qi N; Zhang B; Kang B; Lei X; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar; 39(3):305-308. PubMed ID: 35315041
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
