126 related articles for article (PubMed ID: 21438779)
1. Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.
Brenner L; Burke K; Leduc CA; Guha S; Guo J; Chung WK
Genet Test Mol Biomarkers; 2011; 15(7-8):525-9. PubMed ID: 21438779
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
Nasirshalal M; Panahi M; Javanshir N; Salmani H
J Clin Lab Anal; 2021 Jun; 35(6):e23792. PubMed ID: 33942382
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. [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]
6. Silence is not always golden.
Swanson MS
Genet Test Mol Biomarkers; 2011; 15(7-8):467. PubMed ID: 21762002
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. Three cases of Waardenburg syndrome type 2 in a Korean family.
Choi JH; Moon SK; Lee KH; Lew HM; Chang YH
Korean J Ophthalmol; 2004 Dec; 18(2):185-9. PubMed ID: 15635834
[TBL] [Abstract][Full Text] [Related]
10. Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel
Kumawat D; Kumar V; Sahay P; Nongrem G; Chandra P
Indian J Ophthalmol; 2019 Sep; 67(9):1481-1483. PubMed ID: 31436206
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the
Barashkov NA; Romanov GP; Borisova UP; Solovyev AV; Pshennikova VG; Teryutin FM; Bondar AA; Morozov IV; Khusnutdinova EK; Posukh OL; Burtseva TE; Odland JØ; Fedorova SA
Int J Circumpolar Health; 2019 Dec; 78(1):1630219. PubMed ID: 31213145
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
