Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and EDNRB[original query] |
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Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Molecular and cellular probes 2003 Feb 17 (1): 49-54. Zaahl M G, du Plessis L, Warnich L, Kotze M J, Moore S |
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. International journal of pediatric otorhinolaryngology 2017 11 102 114-118. Wang Xueling, Lin Xiao-Jiang, Tang Xiangrong, Chai Yong-Chuan, Yu De-Hong, Chen Dong-Ye, Wu H |
Validation of high-resolution melting analysis as a diagnostic tool for endothelin receptor B mutation in American Paint horses and allele frequency estimation. Molecular and cellular probes 2018 8 41 52-56. Badial Peres Ramos, Teixeira Raffaella Bertoni Cavalcanti, Delfiol Diego José Zanzarini, da Mota Ligia Souza Lima Silveira, Borges Alexandre Secor |
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 |
The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I. International journal of ophthalmology 2019 9 12 (9): 1507-1509. Cheng Huan-Huan, Ling Shi-Qi, Zhao Pei-Zhen, Li Wei-Li, Deng Ju |
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 |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
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 |
Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome. Computational and structural biotechnology journal 2022 20 5047-5053. Chen Huiyao, Chen Xiang, Hu Liyuan, Ye Chang, Zhang Jiantao, Cheng Guoqiang, Yang Lin, Lu Yulan, Dong Xinran, Zhou Wenh |
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- Page last updated:Apr 22, 2024
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