161 related articles for article (PubMed ID: 27863645)
1. Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
Liang F; Zhao M; Fan L; Zhang H; Shi Y; Han R; Qu C
Int J Pediatr Otorhinolaryngol; 2016 Dec; 91():67-71. PubMed ID: 27863645
[TBL] [Abstract][Full Text] [Related]
2. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
Fernández RM; Núñez-Ramos R; Enguix-Riego MV; Román-Rodríguez FJ; Galán-Gómez E; Blesa-Sánchez E; Antiñolo G; Núñez-Núñez R; Borrego S
Am J Med Genet A; 2014 Feb; 164A(2):542-7. PubMed ID: 24311220
[TBL] [Abstract][Full Text] [Related]
3. A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.
Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
Sci Rep; 2017 Jan; 7():41513. PubMed ID: 28128317
[TBL] [Abstract][Full Text] [Related]
4. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Chen K; Zong L; Liu M; Zhan Y; Wu X; Zou W; Jiang H
Int J Pediatr Otorhinolaryngol; 2014 Jun; 78(6):926-9. PubMed ID: 24735604
[TBL] [Abstract][Full Text] [Related]
5. Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV.
Wang HH; Chen HS; Li HB; Zhang H; Mei LY; He CF; Wang XW; Men MC; Jiang L; Liao XB; Wu H; Feng Y
Gene; 2014 Mar; 538(1):36-41. PubMed ID: 24440785
[TBL] [Abstract][Full Text] [Related]
6. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
Jalilian N; Tabatabaiefar MA; Alimadadi H; Noori-Daloii MR
Int J Pediatr Otorhinolaryngol; 2017 May; 96():122-126. PubMed ID: 28390600
[TBL] [Abstract][Full Text] [Related]
7. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N; Dastot-Le Moal F; Stanchina L; Collot N; Baral V; Marlin S; Attie-Bitach T; Giurgea I; Skopinski L; Reardon W; Toutain A; Sarda P; Echaieb A; Lackmy-Port-Lis M; Touraine R; Amiel J; Goossens M; Pingault V
Am J Hum Genet; 2007 Dec; 81(6):1169-85. PubMed ID: 17999358
[TBL] [Abstract][Full Text] [Related]
8. Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
Arimoto Y; Namba K; Nakano A; Matsunaga T
Gene; 2014 May; 540(2):258-62. PubMed ID: 24582978
[TBL] [Abstract][Full Text] [Related]
9. Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L; Chen H; Jiang W; Hu Z; Mei L; Xue J; He C; Liu Y; Xia K; Feng Y
Biochem Biophys Res Commun; 2011 May; 408(4):620-4. PubMed ID: 21531202
[TBL] [Abstract][Full Text] [Related]
10. A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Ma J; Zhang Z; Jiang HC; Sun H; Ming C; Zhao LP; Gao YQ; Li ZC; Sun MH; Xiao Y; Wu GL; Zhang TS; Ruan B
Mol Med Rep; 2019 Mar; 19(3):1775-1780. PubMed ID: 30628718
[TBL] [Abstract][Full Text] [Related]
11. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Burke EA; Reichard KE; Wolfe LA; Brooks BP; DiGiovanna JJ; Hadley DW; Lehky TJ; Gropman AL; Tifft CJ; Gahl WA; Toro C; Adams D
Am J Med Genet A; 2020 May; 182(5):1278-1283. PubMed ID: 32150337
[TBL] [Abstract][Full Text] [Related]
12. A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.
Wang Y; Chai Y; Zhang P; Zang W
BMC Med Genomics; 2023 Jun; 16(1):147. PubMed ID: 37365589
[TBL] [Abstract][Full Text] [Related]
13. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S; Rayat S; Doabsari MH; Alishiri A; Keramatipour M; Shahri ZJ; Morovvati S
BMC Pediatr; 2021 Feb; 21(1):70. PubMed ID: 33557787
[TBL] [Abstract][Full Text] [Related]
14. Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.
Li L; Ma J; He XL; Zhou YT; Zhang Y; Chen QD; Zhang L; Ruan B; Zhang TS
Biosci Rep; 2021 Jun; 41(6):. PubMed ID: 33345266
[TBL] [Abstract][Full Text] [Related]
15. A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
Pang X; Zheng X; Kong X; Chai Y; Wang Y; Qian H; Yang B; Wu C; Chu J; Yang T
Am J Med Genet A; 2019 Feb; 179(2):243-248. PubMed ID: 30549420
[TBL] [Abstract][Full Text] [Related]
16. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
Chen K; Zong L; Zhan Y; Wu X; Liu M; Jiang H
Int J Pediatr Otorhinolaryngol; 2015 May; 79(5):745-8. PubMed ID: 25817900
[TBL] [Abstract][Full Text] [Related]
17. A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu Y; Shirai K; Takei A; Goto Y; Aoyama T; Watanabe A; Imamura M; Enokizono T; Ohto T; Hori T; Suzuki K; Hayashi M; Masumoto K; Inoue K
Am J Med Genet A; 2018 May; 176(5):1195-1199. PubMed ID: 29681101
[TBL] [Abstract][Full Text] [Related]
18. A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.
Guo M; Li Q; Jiang C; Li S; Ruan B
J Int Adv Otol; 2023 Jun; 19(3):255-259. PubMed ID: 37272645
[TBL] [Abstract][Full Text] [Related]
19. Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J; Zhang TS; Lin K; Sun H; Jiang HC; Yang YL; Low F; Gao YQ; Ruan B
Int J Pediatr Otorhinolaryngol; 2016 Jun; 85():56-61. PubMed ID: 27240497
[TBL] [Abstract][Full Text] [Related]
20. The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.
Liu Q; Cheng J; Lu Y; Zhou J; Wang L; Yang C; Yang G; Yang H; Cao J; Zhang Z; Sun Y
Int J Pediatr Otorhinolaryngol; 2020 Mar; 130():109806. PubMed ID: 31812001
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]