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De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2014.03.014
◽
2014
◽
Vol 78
(6)
◽
pp. 926-929
◽
Cited By ~ 10
Author(s):
Kaitian Chen
◽
Ling Zong
◽
Min Liu
◽
Yuan Zhan
◽
Xuan Wu
◽
...
Keyword(s):
De Novo
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Dominant Mutation
◽
Sox10 Gene
Download Full-text
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A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II
Molecular Medicine Reports
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10.3892/mmr.2019.9815
◽
2019
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Cited By ~ 2
Author(s):
Jing Ma
◽
Zhen Zhang
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Hong‑Chao Jiang
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Hao Sun
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Keyword(s):
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Syndrome Type
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Type Ii
◽
Waardenburg Syndrome
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Sox10 Gene
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Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing
Genetic Testing and Molecular Biomarkers
◽
10.1089/gtmb.2016.0421
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2017
◽
Vol 21
(11)
◽
pp. 681-685
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Cited By ~ 3
Author(s):
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Keyword(s):
Next Generation Sequencing
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De Novo
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Syndrome Type
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Type Ii
◽
Waardenburg Syndrome
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Next Generation
◽
Heterozygous Deletion
◽
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◽
Sox10 Gene
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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2021.110711
◽
2021
◽
Vol 145
◽
pp. 110711
Author(s):
Zhijie Niu
◽
Yongjing Lai
◽
Songhua Tan
◽
Fen Tang
◽
Xianglong Tang
◽
...
Keyword(s):
Inner Ear
◽
De Novo
◽
De Novo Mutation
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Inner Ear Malformation
◽
Sox10 Gene
Download Full-text
Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2015.07.034
◽
2015
◽
Vol 79
(10)
◽
pp. 1718-1721
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Cited By ~ 5
Author(s):
He Wenzhi
◽
Wen Ruijin
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Li Jieliang
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Ma Xiaoyan
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Liu Haibo
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Keyword(s):
Gene Locus
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Chinese Family
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Syndrome Type
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Type Ii
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Waardenburg Syndrome
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Heterozygous Deletion
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Sox10 Gene
Download Full-text
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2016.03.043
◽
2016
◽
Vol 85
◽
pp. 56-61
◽
Cited By ~ 7
Author(s):
Jing Ma
◽
Tie-Song Zhang
◽
Ken Lin
◽
Hao Sun
◽
Hong-Chao Jiang
◽
...
Keyword(s):
Nonsense Mutation
◽
Chinese Patient
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Sox10 Gene
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A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.1520
◽
2020
◽
Vol 8
(12)
◽
Author(s):
Shuzhi Yang
◽
Cuicui Wang
◽
Chengyong Zhou
◽
DongYang Kang
◽
Xin Zhang
◽
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Keyword(s):
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Follow Up Study
◽
Truncating Mutation
Download Full-text
Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2020.110499
◽
2021
◽
Vol 140
◽
pp. 110499
Author(s):
Lukas Varga
◽
Daniel Danis
◽
Jakub Drsata
◽
Ivica Masindova
◽
Martina Skopkova
◽
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Keyword(s):
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Novel Variants
◽
Ednrb Gene
◽
Sox10 Gene
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Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2017.08.012
◽
2017
◽
Vol 102
◽
pp. 114-118
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Cited By ~ 2
Author(s):
Xueling Wang
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Xiao-Jiang Lin
◽
Xiangrong Tang
◽
Yong-Chuan Chai
◽
De-Hong Yu
◽
...
Keyword(s):
Genetic Analysis
◽
Usher Syndrome
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Type Iv
◽
Usher Syndrome Type
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Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2015.03.006
◽
2015
◽
Vol 79
(5)
◽
pp. 745-748
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Cited By ~ 5
Author(s):
Kaitian Chen
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Ling Zong
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Yuan Zhan
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Xuan Wu
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Min Liu
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Keyword(s):
Genetic Counseling
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Chinese Family
◽
Syndrome Type
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Type Ii
◽
Waardenburg Syndrome
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A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
Scientific Reports
◽
10.1038/srep41513
◽
2017
◽
Vol 7
(1)
◽
Cited By ~ 3
Author(s):
Xiong Wang
◽
Yaowu Zhu
◽
Na Shen
◽
Jing Peng
◽
Chunyu Wang
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...
Keyword(s):
De Novo
◽
Deletion Mutation
◽
Chinese Family
◽
Syndrome Type
◽
Waardenburg Syndrome
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