232 related articles for article (PubMed ID: 12950719)
1. Mouse models for four types of Waardenburg syndrome.
Tachibana M; Kobayashi Y; Matsushima Y
Pigment Cell Res; 2003 Oct; 16(5):448-54. PubMed ID: 12950719
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M
Mamm Genome; 2002 Jan; 13(1):30-5. PubMed ID: 11773966
[TBL] [Abstract][Full Text] [Related]
4. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
Verastegui C; Bille K; Ortonne JP; Ballotti R
J Biol Chem; 2000 Oct; 275(40):30757-60. PubMed ID: 10938265
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. SLUG (SNAI2) deletions in patients with Waardenburg disease.
Sánchez-Martín M; Rodríguez-García A; Pérez-Losada J; Sagrera A; Read AP; Sánchez-García I
Hum Mol Genet; 2002 Dec; 11(25):3231-6. PubMed ID: 12444107
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ
Hum Genet; 2000 Jul; 107(1):1-6. PubMed ID: 10982026
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. [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]
12. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
Van Camp G; Van Thienen MN; Handig I; Van Roy B; Rao VS; Milunsky A; Read AP; Baldwin CT; Farrer LA; Bonduelle M
J Med Genet; 1995 Jul; 32(7):531-6. PubMed ID: 7562965
[TBL] [Abstract][Full Text] [Related]
13. Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
Yokoyama S; Takeda K; Shibahara S
J Biochem; 2006 Oct; 140(4):491-9. PubMed ID: 16921166
[TBL] [Abstract][Full Text] [Related]
14. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Pingault V; Bondurand N; Kuhlbrodt K; Goerich DE; Préhu MO; Puliti A; Herbarth B; Hermans-Borgmeyer I; Legius E; Matthijs G; Amiel J; Lyonnet S; Ceccherini I; Romeo G; Smith JC; Read AP; Wegner M; Goossens M
Nat Genet; 1998 Feb; 18(2):171-3. PubMed ID: 9462749
[TBL] [Abstract][Full Text] [Related]
15. The mutational spectrum in Waardenburg syndrome.
Tassabehji M; Newton VE; Liu XZ; Brady A; Donnai D; Krajewska-Walasek M; Murday V; Norman A; Obersztyn E; Reardon W
Hum Mol Genet; 1995 Nov; 4(11):2131-7. PubMed ID: 8589691
[TBL] [Abstract][Full Text] [Related]
16. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
Lee M; Goodall J; Verastegui C; Ballotti R; Goding CR
J Biol Chem; 2000 Dec; 275(48):37978-83. PubMed ID: 10973953
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
