Human Genome Epidemiology Literature Finder
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Query Trace: Waardenburg Syndrome and MITF[original query] |
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[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 |
A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients. International journal of molecular and cellular medicine 2018 9 7 (1): 17-23. Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Yazdanpanah Mahboubeh, Darabi Elham, Bahrami Tayyeb, Zekri Ali, Noori-Daloii Mohammad Re |
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 |
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 |
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 2020 1 8 (3): e1128. Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huiro |
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2. Molecular syndromology 2021 8 12 (4): 244-249. Li Ying, Xu Yajuan, Li Genxia, Chen Kang, Yu Haiyang, Gao Jinshuang, Tian Weifang, Liu Yuehua, Liu Pingping, Zhang Linlin, Zhang Zh |
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 |
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- Page last updated:May 06, 2024
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