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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 15 (of 15 Records)

Query Trace: Syndrome and PAX3[original query]
Screening for novel PAX3 polymorphisms and risks of spina bifida.
Birth defects research. Part A, Clinical and molecular teratology 2007 Jan 79 (1): 45-9.
Lu Wei, Zhu Huiping, Wen Shu, Laurent Cecile, Shaw Gary M, Lammer Edward J, Finnell Richard
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. GWAS Catalog
American journal of human genetics 2012 Mar 90 (3): 478-85.
Paternoster Lavinia, Zhurov Alexei I, Toma Arshed M, Kemp John P, St Pourcain Beate, Timpson Nicholas J, McMahon George, McArdle Wendy, Ring Susan M, Smith George Davey, Richmond Stephen, Evans David
[Mutation analysis of seven patients with Waardenburg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Jun 33 (3): 312-5.
Hao Ziqi, Zhou Yongan, Li Pengli, Zhang Quanbin, Li Jiao, Wang Pengfei, Li Xiangshao, Feng Yo
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
Scientific reports 2016 Oct 6 35498.
Sun Lianhua, Li Xiaohua, Shi Jun, Pang Xiuhong, Hu Yechen, Wang Xiaowen, Wu Hao, Yang T
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Molecular medicine reports 2016 Jan .
Chen Yong, Yang Fuwei, Zheng Hexin, Zhou Jianda, Zhu Ganghua, Hu Peng, Wu Weiji
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
Molecular medicine reports 2017 11 17 (1): 172-178.
Wang Li, Qin Litao, Li Tao, Liu Hongjian, Ma Lingcao, Li Wan, Wu Dong, Wang Hongdan, Guo Qiannan, Guo Liangjie, Liao Shix
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Clinical genetics 2018 11 95 (3): 398-402.
Somashekar Puneeth H, Girisha Katta M, Nampoothiri Sheela, Gowrishankar Kalpana, Devi Radha R, Gupta Neerja, Narayanan Dhanya L, Kaur Anupriya, Bajaj Shruti, Jagadeesh Sujatha, Lewis Leslie E S, Shailaja Shenoy, Shukla An
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Neural plasticity 2019 2019 7143458.
Li Wu, Mei Lingyun, Chen Hongsheng, Cai Xinzhang, Liu Yalan, Men Meichao, Liu Xue Zhong, Yan Denise, Ling Jie, Feng Yo
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Gene 2019 4 704 86-90.
Minami Shujiro B, Nara Kiyomitsu, Mutai Hideki, Morimoto Noriko, Sakamoto Hirokazu, Takiguchi Tetsuya, Kaga Kimitaka, Matsunaga Tats
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.
Gene 2019 3 702 99-106.
Dai Wenting, Wu Jiayu, Zhao Yaguang, Jiang Fang, Zheng Ruizhi, Chen Dan-Na, Men Meichao, Li Jia-
The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.
International journal of pediatric otorhinolaryngology 2019 12 130 109806.
Liu Qin, Cheng Jing, Lu Yu, Zhou Jia, Wang Li, Yang Changliang, Yang Guang, Yang Hui, Cao Jingyuan, Zhang Zhao, Sun
A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.
Genetic testing and molecular biomarkers 2020 4 24 (5): 249-255.
Li Shuling, Guo Min, Ruan Biao, Liu Ya, Cui Xin, Han Weiwei, Li Ruom
A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.
International journal of pediatric otorhinolaryngology 2021 5 147 110758.
Guo Min, Li Qing, Jiang Chaowu, Li Shuling, Ruan Bi
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Human genetics 2022 12 142 (3): 419-430.
Li Xiaohong, Huang Shasha, Wang Guojian, Kang Dongyang, Han Mingyu, Wu Xiedong, Yang Jinyuan, Zheng Qiuchen, Zhao Chaoyue, Yuan Yongyi, Dai
Molecular etiology study of hearing loss in 13 Chinese Han families.
Frontiers in neurology 2022 12 13 1048218.
Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J
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