174 related articles for article (PubMed ID: 30549420)
1. 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]
2. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H
Clin Genet; 2013 Jan; 83(1):78-82. PubMed ID: 22320238
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
Sun L; Li X; Shi J; Pang X; Hu Y; Wang X; Wu H; Yang T
Sci Rep; 2016 Oct; 6():35498. PubMed ID: 27759048
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.
Li W; Feng Y; Chen H; He C; Mei L; Liu XZ; Men M
Otol Neurotol; 2020 Dec; 41(10):e1250-e1255. PubMed ID: 32740552
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S; Dai P; Liu X; Kang D; Zhang X; Yang W; Zhou C; Yang S; Yuan H
PLoS One; 2013; 8(10):e77149. PubMed ID: 24194866
[TBL] [Abstract][Full Text] [Related]
16. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
Wollnik B; Tukel T; Uyguner O; Ghanbari A; Kayserili H; Emiroglu M; Yuksel-Apak M
Am J Med Genet A; 2003 Sep; 122A(1):42-5. PubMed ID: 12949970
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
Yang S; Wang C; Zhou C; Kang D; Zhang X; Yuan H
Mol Genet Genomic Med; 2020 Dec; 8(12):e1520. PubMed ID: 33045145
[TBL] [Abstract][Full Text] [Related]
19. Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Wang J; Lu Y; Yan X; Shen T; Li L; Rao Y; Tan B; Xiong W; Cheng J; Zhao Y; Yuan H
Mol Genet Genomic Med; 2021 Sep; 9(9):e1770. PubMed ID: 34323021
[TBL] [Abstract][Full Text] [Related]
20. [Clinical and genetic investigation of families with Waardenburg syndrome type 2].
Chen HS; Liao XB; Liu YL; He CF; Zhang H; Jiang L; Feng Y; Mei LY
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Dec; 30(24):1946-1949. PubMed ID: 29798271
[No Abstract] [Full Text] [Related]
[Next] [New Search]