Human Genome Epidemiology Literature Finder
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Query Trace: EDNRB[original query] |
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RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. European journal of human genetics : EJHG 2015 Sep . Widowati Titis, Melhem Shamiram, Patria Suryono Y, de Graaf Bianca M, Sinke Richard J, Viel Martijn, Dijkhuis Jos, Sadewa Ahmad H, Purwohardjono Rochadi, Soenarto Yati, Hofstra Robert Mw, Sribudiani Yun |
Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrb(sl) mutations. Gene 2015 Aug . Huang Jieping, Dang Ruihua, Torigoe Daisuke, Li Anqi, Lei Chuzhao, Sasaki Nobuya, Wang Jinxi, Agui Takas |
Polymorphisms in endothelin system genes, arsenic levels and obesity risk. PloS one 2015 10 (3): e0118471. Martínez-Barquero Vanesa, de Marco Griselda, Martínez-Hervas Sergio, Rentero Pilar, Galan-Chilet Inmaculada, Blesa Sebastian, Morchon David, Morcillo Sonsoles, Rojo Gemma, Ascaso Juan Francisco, Real José Tomás, Martín-Escudero Juan Carlos, Chaves Felipe Javi |
Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis. PloS one 2015 10 (3): e0122068. Huang Jieping, Dang Ruihua, Torigoe Daisuke, Lei Chuzhao, Lan Xianyong, Chen Hong, Sasaki Nobuya, Wang Jinxi, Agui Takas |
Clinical and genetic correlations of familial Hirschsprung's disease. Journal of pediatric surgery 2015 Feb 50 (2): 285-8. Moore Sam W, Zaahl Moniq |
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.
Nature communications 2016 7 10605. Zhang Yong-Biao, Hu Jintian, Zhang Jiao, Zhou Xu, Li Xin, Gu Chaohao, Liu Tun, Xie Yangchun, Liu Jiqiang, Gu Mingliang, Wang Panpan, Wu Tingting, Qian Jin, Wang Yue, Dong Xiaoqun, Yu Jun, Zhang Qingg |
The joint effect of the endothelin receptor B gene (EDNRB) polymorphism rs10507875 and nitric oxide synthase 3 gene (NOS3) polymorphism rs869109213 in Slovenian patients with type 2 diabetes mellitus and diabetic retinopathy. Bosnian journal of basic medical sciences 2017 Aug . Bregar Dejan, Cilenšek Ines, Manko? Sara, Reschner Ana, Petrovi? Danijel, Globo?nik Petrovi? Moj |
Genetic determinants of essential hypertension in the population of Tatars from Russia. Journal of hypertension 2017 05 35 Suppl 1 S16-S23. Timasheva Yanina, Nasibullin Timur, Imaeva Elvira, Erdman Vera, Tuktarova Ilsiyar, Mustafina Ol |
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 |
Associations of EDNRA and EDNRB Polymorphisms with Intracerebral Hemorrhage. World neurosurgery 2019 May . Zeng Yi, Chen RuiJuan, Ma MingMing, Liu BaoQiong, Xia Jian, Xu HongWei, Liu YunHai, Du XiaoPing, Hu ZhiPing, Yang QiDong, Zhang |
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 |
Effects of genotype on TENS effectiveness in controlling knee pain in persons with mild to moderate osteoarthritis. European journal of pain (London, England) 2019 Oct . Govil Manika, Mukhopadhyay Nandita, Holwerda Teri, Sluka Kathleen, Rakel Barbara, Schutte Debra |
Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children. BioMed research international 2020 11 2020 5956412. Zheng Yi, Lan ChaoTing, Wang Ning, Xu Xiaogang, Hu Tuqun, Wu Qi, Xie Xiaoli, Wang Zhe, Zhang Yan, Li Co |
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss. Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
The fine-scale genetic structure and selection signals of Chinese indigenous pigs. Evolutionary applications 2020 1 13 (2): 458-475. Huang Min, Yang Bin, Chen Hao, Zhang Hui, Wu Zhongping, Ai Huashui, Ren Jun, Huang Lushe |
Driver and novel genes correlated with metastasis of non-small cell lung cancer: A comprehensive analysis. Pathology, research and practice 2021 Jul 224 153551. Wu Yongfeng, Ni Heng, Yang Dexin, Niu Yuequn, Chen Kelie, Xu Jinming, Wang Fang, Tang Song, Shi Yu, Zhang Honghe, Hu Jian, Xia Dajing, Wu Yih |
Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression. Pediatric research 2021 4 91 (4): 903-911. Clyman Ronald I, Hills Nancy K, Dagle John M, Murray Jeffrey C, Kelsey Keeg |
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications biology 2021 11 4 (1): 1253. Lona-Durazo Frida, Mendes Marla, Thakur Rohit, Funderburk Karen, Zhang Tongwu, Kovacs Michael A, Choi Jiyeon, Brown Kevin M, Parra Esteban |
Identification of genetic loci associated with nocturnal enuresis: a genome-wide association study.
The Lancet. Child & adolescent health 2021 1 5 (3): 201-209. Jørgensen Cecilie S, Horsdal Henriette T, Rajagopal Veera M, Grove Jakob, Als Thomas D, Kamperis Konstantinos, Nyegaard Mette, Walters G Bragi, Eðvarðsson Viðar Örn, Stefánsson Hreinn, Nordentoft Merete, Hougaard David Michael, Werge Thomas, Mors Ole, Mortensen Preben Bo, Agerbo Esben, Rittig Søren, Stefánsson Kári, Børglum Anders D, Demontis Ditte, Christensen Jane |
Unraveling molecular mechanisms of head and neck cancer. Critical reviews in oncology/hematology 2022 8 178 103778. Antra , Parashar Palak, Hungyo Hungharla, Jain Anuja, Ahmad Shandar, Tandon Vib |
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 |
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 . Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi |
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease. Pediatric surgery international 2024 1 40 (1): 38. Hui-Yang Ding, Wen Lei, Shang-Jie Xiao, Hua Deng, Li-Ke Yuan, Lu Xu, Jia-Liang Zhou, Rong Huang, Yuan-Long Fang, Qing-Yuan Wang, Ying Zhang, Liang Zhang, Xiao-Chun Z |
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