164 related articles for article (PubMed ID: 17254487)
1. Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.
Yang SZ; Cao JY; Zhang RN; Liu LX; Liu X; Zhang X; Kang DY; Li M; Han DY; Yuan HJ; Yang WY
Chin Med J (Engl); 2007 Jan; 120(1):46-9. PubMed ID: 17254487
[TBL] [Abstract][Full Text] [Related]
2. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Emamdjomeh H; Noori-Daloii MR
Gene; 2015 Dec; 574(2):302-7. PubMed ID: 26275939
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Noori-Daloii MR
Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1736-40. PubMed ID: 26279250
[TBL] [Abstract][Full Text] [Related]
4. The value of MLPA in Waardenburg syndrome.
Milunsky JM; Maher TA; Ito M; Milunsky A
Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390
[TBL] [Abstract][Full Text] [Related]
5. Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
Niu Z; Li J; Tang F; Sun J; Wang X; Jiang L; Mei L; Chen H; Liu Y; Cai X; Feng Y; He C
Gene; 2018 Feb; 642():362-366. PubMed ID: 29158168
[TBL] [Abstract][Full Text] [Related]
6. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Wang J; Li S; Xiao X; Wang P; Guo X; Zhang Q
Mol Vis; 2010 Jun; 16():1146-53. PubMed ID: 20664692
[TBL] [Abstract][Full Text] [Related]
7. Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.
Matsunaga T; Mutai H; Namba K; Morita N; Masuda S
Acta Otolaryngol; 2013 Apr; 133(4):345-51. PubMed ID: 23163891
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
Ma J; Lin K; Jiang HC; Yang Y; Zhang Y; Yang G; Sun H; Ming C; Bi X; Zhang T; Ruan B
Mol Genet Genomic Med; 2019 Jul; 7(7):e00798. PubMed ID: 31190477
[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 splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
Attaie A; Kim E; Wilcox ER; Lalwani AK
Mol Cell Probes; 1997 Jun; 11(3):233-6. PubMed ID: 9232624
[TBL] [Abstract][Full Text] [Related]
11. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
Watanabe A; Takeda K; Ploplis B; Tachibana M
Nat Genet; 1998 Mar; 18(3):283-6. PubMed ID: 9500554
[TBL] [Abstract][Full Text] [Related]
12. Mutations in PAX3 associated with Waardenburg syndrome type I.
Baldwin CT; Lipsky NR; Hoth CF; Cohen T; Mamuya W; Milunsky A
Hum Mutat; 1994; 3(3):205-11. PubMed ID: 8019556
[TBL] [Abstract][Full Text] [Related]
13. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
Baldwin CT; Hoth CF; Macina RA; Milunsky A
Am J Med Genet; 1995 Aug; 58(2):115-22. PubMed ID: 8533800
[TBL] [Abstract][Full Text] [Related]
14. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Carey ML; Friedman TB; Asher JH; Innis JW
J Med Genet; 1998 Mar; 35(3):248-50. PubMed ID: 9541113
[TBL] [Abstract][Full Text] [Related]
15. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
Trabelsi M; Nouira M; Maazoul F; Kraoua L; Meddeb R; Ouertani I; Chelly I; Benoit V; Besbes G; Mrad R
Int J Pediatr Otorhinolaryngol; 2017 Dec; 103():14-19. PubMed ID: 29224756
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Niu Z; Mei L; Tang F; Li J; Wang X; Sun J; He C; Cheng H; Liu Y; Cai X; Song J; Feng Y; Jiang L
Eur Arch Otorhinolaryngol; 2021 Aug; 278(8):2807-2815. PubMed ID: 32940795
[TBL] [Abstract][Full Text] [Related]
18. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
Hazan F; Ozturk AT; Adibelli H; Unal N; Tukun A
Mol Vis; 2013; 19():196-202. PubMed ID: 23378733
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
Sotirova VN; Rezaie TM; Khoshsorour MM; Sarfarazi M
Ophthalmic Genet; 2000 Mar; 21(1):25-8. PubMed ID: 10779847
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
Hoth CF; Milunsky A; Lipsky N; Sheffer R; Clarren SK; Baldwin CT
Am J Hum Genet; 1993 Mar; 52(3):455-62. PubMed ID: 8447316
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
