181 related articles for article (PubMed ID: 33774334)
1. Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.
Wen J; He C; Feng Y; Song J; Liu J; Liu X; Mei L; Ling J; Chen H; Liu Y
Stem Cell Res; 2021 May; 53():102300. PubMed ID: 33774334
[TBL] [Abstract][Full Text] [Related]
2. Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.
Wen J; Song J; He C; Ling J; Liu Y; Chen H; Gong W; Mei L; Feng Y
Stem Cell Res; 2021 Mar; 51():102157. PubMed ID: 33454628
[TBL] [Abstract][Full Text] [Related]
3. Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers.
Alkobtawi M; Pla P; Onteniente B; Seal S; Pingault V; Marlin S; Monsoro-Burq AH
Stem Cell Res; 2023 Jun; 69():103074. PubMed ID: 36989619
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
Saberi M; Golchehre Z; Salmani H; Karamzade A; Tabatabaie SZ; Keramatipour M
Int J Pediatr Otorhinolaryngol; 2018 Oct; 113():229-233. PubMed ID: 30173992
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Tekin M; Bodurtha JN; Nance WE; Pandya A
Clin Genet; 2001 Oct; 60(4):301-4. PubMed ID: 11683776
[TBL] [Abstract][Full Text] [Related]
13. Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.
Chen K; Zhan Y; Wu X; Zong L; Jiang H
Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():200-204. PubMed ID: 29287868
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():88-93. PubMed ID: 29287889
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
Somashekar PH; Upadhyai P; Narayanan DL; Kamath N; Bajaj S; Girisha KM; Shukla A
Am J Med Genet A; 2020 Dec; 182(12):2951-2958. PubMed ID: 32990402
[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. A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
Choi EY; Choi W; Lee CS
BMC Ophthalmol; 2018 Oct; 18(1):266. PubMed ID: 30314436
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.
Wang P; Wang J; Xing Y; Wang H; Yu D; Feng Y; Wu H; Wu Y; Chen Z; Wang J; Shi H
Stem Cell Res; 2020 Apr; 44():101756. PubMed ID: 32199281
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
