225 related articles for article (PubMed ID: 36331148)
1. Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Lee CY; Lo MY; Chen YM; Lin PH; Hsu CJ; Chen PL; Wu CC; Hsu JS
Mol Genet Genomic Med; 2022 Dec; 10(12):e2082. PubMed ID: 36331148
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.
Yu Y; Liu W; Chen M; Yang Y; Yang Y; Hong E; Lu J; Zheng J; Ni X; Guo Y; Zhang J
Mol Genet Genomic Med; 2020 May; 8(5):e1217. PubMed ID: 32168437
[TBL] [Abstract][Full Text] [Related]
4. Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
Ren S; Chen X; Kong X; Chen Y; Wu Q; Jiao Z; Shi H
Mol Genet Genomic Med; 2020 Mar; 8(3):e1128. PubMed ID: 31960627
[TBL] [Abstract][Full Text] [Related]
5. Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F; Xiao M; Ji D; Zheng F; Shi T
Orphanet J Rare Dis; 2024 Jun; 19(1):226. PubMed ID: 38844942
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
Li H; Jin P; Hao Q; Zhu W; Chen X; Wang P
Genet Test Mol Biomarkers; 2017 Nov; 21(11):681-685. PubMed ID: 29045167
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H; Jiang L; Xie Z; Mei L; He C; Hu Z; Xia K; Feng Y
Biochem Biophys Res Commun; 2010 Jun; 397(1):70-4. PubMed ID: 20478267
[TBL] [Abstract][Full Text] [Related]
9. A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Minami SB; Nara K; Mutai H; Morimoto N; Sakamoto H; Takiguchi T; Kaga K; Matsunaga T
Gene; 2019 Jul; 704():86-90. PubMed ID: 30978479
[TBL] [Abstract][Full Text] [Related]
10. Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
Jang MA; Lee T; Lee J; Cho EH; Ki CS
Ann Lab Med; 2015 May; 35(3):362-5. PubMed ID: 25932447
[TBL] [Abstract][Full Text] [Related]
11. Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.
Varga L; Danis D; Drsata J; Masindova I; Skopkova M; Slobodova Z; Chrobok V; Profant M; Gasperikova D
Int J Pediatr Otorhinolaryngol; 2021 Jan; 140():110499. PubMed ID: 33234331
[TBL] [Abstract][Full Text] [Related]
12. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Bondurand N; Pingault V; Goerich DE; Lemort N; Sock E; Le Caignec C; Wegner M; Goossens M
Hum Mol Genet; 2000 Aug; 9(13):1907-17. PubMed ID: 10942418
[TBL] [Abstract][Full Text] [Related]
13. [Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome].
Zhao N; Wang J; Xiao H; Wu C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1186-1190. PubMed ID: 32924132
[TBL] [Abstract][Full Text] [Related]
14. A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S; Qin M; Mao S; Mei L; Cai X; Feng Y; He C; Song J
BMC Med Genomics; 2022 Nov; 15(1):230. PubMed ID: 36329483
[TBL] [Abstract][Full Text] [Related]
15. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M; Miliński M; Buszman E; Wrześniok D; Beberok A
Postepy Hig Med Dosw (Online); 2013 Nov; 67():1109-18. PubMed ID: 24379252
[TBL] [Abstract][Full Text] [Related]
16. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Zhang H; Chen H; Luo H; An J; Sun L; Mei L; He C; Jiang L; Jiang W; Xia K; Li JD; Feng Y
Hum Genet; 2012 Mar; 131(3):491-503. PubMed ID: 21965087
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.
Wenzhi H; Ruijin W; Jieliang L; Xiaoyan M; Haibo L; Xiaoman W; Jiajia X; Shaoying L; Shuanglin L; Qing L
Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1718-21. PubMed ID: 26296878
[TBL] [Abstract][Full Text] [Related]
18. Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G; Li X; Gao X; Su Y; Han M; Gao B; Guo C; Kang D; Huang S; Yuan Y; Dai P
Hum Genet; 2022 Apr; 141(3-4):839-852. PubMed ID: 34142234
[TBL] [Abstract][Full Text] [Related]
19. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Huang S; Song J; He C; Cai X; Yuan K; Mei L; Feng Y
Gene Ther; 2022 Sep; 29(9):479-497. PubMed ID: 33633356
[TBL] [Abstract][Full Text] [Related]
20. Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.
Alehabib E; Alinaghi S; Pourfatemi F; Darvish H
Int J Pediatr Otorhinolaryngol; 2020 Aug; 135():110014. PubMed ID: 32422366
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
