126 related articles for article (PubMed ID: 38411002)
1. Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.
Macaskill L; Reali L; Naik S
Clin Dysmorphol; 2024 Jul; 33(3):125-127. PubMed ID: 38411002
[No Abstract] [Full Text] [Related]
2. 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]
3. [Heterochromia iridis, congenital deafness and skin pigmentary abnormalities: Waardenburg syndrome].
Jiménez Gómez N; Ballester Martínez MA; Urrutia Hernando S; Jaén Olasolo P
Med Clin (Barc); 2014 Mar; 142(6):e11. PubMed ID: 24029453
[No Abstract] [Full Text] [Related]
4. Waardenburg syndrome.
Carrascosa MF; Salcines-Caviedes JR
Mayo Clin Proc; 2013 Oct; 88(10):e125. PubMed ID: 24079698
[No Abstract] [Full Text] [Related]
5. Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
Eigelshoven S; Kameda G; Kortüm AK; Hübsch S; Angerstein W; Singh P; Vöhringer R; Goecke T; Mayatepek E; Ruzicka T; Wildhardt G; Meissner T; Kruse R
Pediatr Dermatol; 2009; 26(6):759-61. PubMed ID: 20199465
[TBL] [Abstract][Full Text] [Related]
6. Biallelic variants in PAX3 cause Klein syndrome.
Salah S; Meiner V; Abumayaleh A; Asafra A; Al-Sharif T; Al-Fallah O; Hasasneh B; Zlotogora J
Clin Genet; 2022 Sep; 102(3):223-227. PubMed ID: 35607853
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
13. What's your diagnosis? Waardenburg syndrome type I.
J Pediatr Ophthalmol Strabismus; 2006; 43(2):77, 99. PubMed ID: 16598971
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. Waardenburg Syndrome type 1: A case report.
Demirci GT; Atıs G; Altunay IK
Dermatol Online J; 2011 Nov; 17(11):3. PubMed ID: 22136859
[TBL] [Abstract][Full Text] [Related]
17. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL; Cupples LA; Arnos KS; Asher JH; Baldwin CT; Blanton S; Carey ML; da Silva EO; Friedman TB; Greenberg J; Lalwani AK; Milunsky A; Nance WE; Pandya A; Ramesar RS; Read AP; Tassabejhi M; Wilcox ER; Farrer LA
Hum Genet; 1998 May; 102(5):499-506. PubMed ID: 9654197
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [
Bai Y; Liu N; Kong XD; Yan J; Qin ZB; Wang B
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Dec; 51(12):896-901. PubMed ID: 27978878
[No Abstract] [Full Text] [Related]
[Next] [New Search]
