A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

2012 ◽  
Vol 55 (11) ◽  
pp. 641-645 ◽  
Author(s):  
Elisavet Siomou ◽  
Emmanouil Manolakos ◽  
Michael Petersen ◽  
Loretta Thomaidis ◽  
Yolanda Gyftodimou ◽  
...  
Keyword(s):  
Chromosomal Region ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Sox10 Gene

scholarly journals Hearing dysfunction in heterozygousMitfMi-wh/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome

2012 ◽  
Vol 26 (1) ◽  
pp. 78-87 ◽  
Author(s):  
Christina Ni ◽  
Deming Zhang ◽  
Lisa A. Beyer ◽  
Karin E. Halsey ◽  
Hideto Fukui ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

2017 ◽  
Vol 62 (7) ◽  
pp. 703-709 ◽  
Author(s):  
Jie Sun ◽  
Ziqi Hao ◽  
Hunjin Luo ◽  
Chufeng He ◽  
Lingyun Mei ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Nonstop Mutation

A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome Type 2 (WS2)

1998 ◽  
Vol 12 (1) ◽  
pp. 55-57 ◽  
Author(s):  
Cynthia Wang ◽  
Eugene Kim ◽  
Ali Attaie ◽  
Tenesha N Smith ◽  
Edward R Wilcox ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

2017 ◽  
Vol 30 (5) ◽  
pp. 501-504 ◽  
Author(s):  
Yasushi Ogawa ◽  
Michihiro Kono ◽  
Masashi Akiyama
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

1996 ◽  
Vol 14 (1) ◽  
pp. 50-54 ◽  
Author(s):  
Masayoshi Tachibana ◽  
Kazuhisa Takeda ◽  
Yoshitaka Nobukuni ◽  
Kazunori Urabe ◽  
Jason E. Long ◽  
...  
Keyword(s):  
Ectopic Expression ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Three Cases of Waardenburg Syndrome Type 2 in a Korean Family

2004 ◽  
Vol 18 (2) ◽  
pp. 185 ◽  
Author(s):  
Joong Hyuk Choi ◽  
Sung-Kyun Moon ◽  
Ki Hwang Lee ◽  
Ho Min Lew ◽  
Yoon-Hee Chang
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Korean Family

scholarly journals Teaching NeuroImages: Waardenburg syndrome type 2

Neurology ◽  
2019 ◽  
Vol 92 (16) ◽  
pp. e1935-e1936
Author(s):  
Marcos Rosa Júnior ◽  
Larissa Marques Santana ◽  
Bernardo Faria Ramos ◽  
Henrique Faria Ramos
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

2016 ◽  
Vol 85 ◽  
pp. 56-61 ◽  
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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