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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2017.11.011
◽
2018
◽
Vol 104
◽
pp. 200-204
◽
Cited By ~ 2
Author(s):
Kaitian Chen
◽
Yuan Zhan
◽
Xuan Wu
◽
Ling Zong
◽
Hongyan Jiang
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Germinal Mosaicism
Download Full-text
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References
Waardenburg syndrome type I
Indian Journal of Paediatric Dermatology
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10.4103/ijpd.ijpd_37_17
◽
2017
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Vol 0
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pp. 0
Author(s):
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◽
Pardeep Venkatesh
Keyword(s):
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A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)
Molecular and Cellular Probes
◽
10.1006/mcpr.1997.0101
◽
1997
◽
Vol 11
(3)
◽
pp. 233-236
◽
Cited By ~ 7
Author(s):
Ali Attaie
◽
Eugene Kim
◽
Edward R. Wilcox
◽
Anil K. Lalwani
Keyword(s):
Splice Site
◽
Splice Site Mutation
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Site Mutation
◽
Generation Family
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Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3
American Journal of Medical Genetics
◽
10.1002/ajmg.1320460534
◽
1993
◽
Vol 46
(5)
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pp. 608-608
◽
Cited By ~ 3
Author(s):
Satoshi Ishikiriyama
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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Waardenburg Syndrome Type I
The Indian Journal of Pediatrics
◽
10.1007/s12098-019-03170-5
◽
2020
◽
Vol 87
(3)
◽
pp. 244-244
Author(s):
Vykuntaraju K. Gowda
◽
Sahana Srinivas
◽
Varunvenkat M. Srinivasan
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
Download Full-text
Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)
American Journal of Medical Genetics
◽
10.1002/ajmg.1320440533
◽
1992
◽
Vol 44
(5)
◽
pp. 699-700
◽
Cited By ~ 14
Author(s):
Susan J. Kirkpatrick
◽
Christine M. Kent
◽
Renata Laxova
◽
Gurbax S. Sekhon
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I
Ophthalmic Genetics
◽
10.1076/1381-6810(200003)21:1;1-i;ft025
◽
2000
◽
Vol 21
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◽
pp. 25-28
Author(s):
Vihra N. Sotirova
◽
Tayebeh Rezaie
◽
M.R. Khoshsorour
◽
Mansoor Sarfarazi
Keyword(s):
Novel Mutation
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Paired Domain
◽
Iranian Family
Download Full-text
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.798
◽
2019
◽
Vol 7
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◽
Cited By ~ 2
Author(s):
Jing Ma
◽
Ken Lin
◽
Hong‐chao Jiang
◽
Yanli Yang
◽
Yu Zhang
◽
...
Keyword(s):
Novel Mutation
◽
Chinese Family
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Pax3 Gene
Download Full-text
Waardenburg Syndrome Type I: Report of Cases With Dental Phenotypes and Genetic Analysis
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology
◽
10.1016/j.oooo.2015.02.025
◽
2015
◽
Vol 120
(2)
◽
pp. e18
Author(s):
Edimilson Martins de Freitas
◽
Luciano Sólia Nasser
◽
Sibele Nascimento de Aquino
◽
Ricardo Della Coletta
◽
Lívia Maris Paranaíba
◽
...
Keyword(s):
Genetic Analysis
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
Download Full-text
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations
Gene
◽
10.1016/j.gene.2015.08.023
◽
2015
◽
Vol 574
(2)
◽
pp. 302-307
◽
Cited By ~ 3
Author(s):
Nazanin Jalilian
◽
Mohammad Amin Tabatabaiefar
◽
Mohammad Farhadi
◽
Tayeb Bahrami
◽
Hesam Emamdjomeh
◽
...
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I
International Journal of Ophthalmology
◽
10.18240/ijo.2019.09.22
◽
2019
◽
Vol 12
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◽
pp. 1507-1509
Author(s):
Huan-Huan Cheng
Keyword(s):
Chinese Family
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
Download Full-text
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