Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 59 Records) |
Query Trace: Hirschsprung's Disease[original query] |
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RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. PloS one 2014 9 (3): e90091. Liang Chun-mei, Ji Dong-mei, Yuan Xu, Ren Ling-ling, Shen Juan, Zhang Hai-y |
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 |
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 |
[Genotype-phenotype correlations in multiple endocrine neoplasia type 2]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2016 Jul 51 (7): 538-41. Zhang X W, Wang J Y, Zhang Y B, Wan H F, Zhang B, Yan D G, Liu W S, Xu Z G, Tang P |
Expression of Tenascin C, EGFR, E-Cadherin, and TTF-1 in Medullary Thyroid Carcinoma and the Correlation with RET Mutation Status. International journal of molecular sciences 2016 17 (7): . Steiner Florian, Hauser-Kronberger Cornelia, Rendl Gundula, Rodrigues Margarida, Pirich Christi |
Hedgehog gene polymorphisms are associated with the risk of Hirschsprung's disease and anorectal malformation in a Chinese population. Molecular medicine reports 2016 Apr . Gao Hong, Wang Dajia, Bai Yuzuo, Zhang Juan, Wu Mei, Mi Jie, Jia Huimin, Wang Weil |
Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma. PloS one 2016 11 (2): e0147840. Ceolin Lucieli, Romitti Mirian, Rodrigues Siqueira Débora, Vaz Ferreira Carla, Oliboni Scapineli Jessica, Assis-Brazil Beatriz, Vieira Maximiano Rodolfo, Dias Amarante Tauanne, de Souza Nunes Miriam Celi, Weber Gerald, Maia Ana Lui |
Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.
Molecular neurobiology 2016 Feb . Tang Weibing, Tang Junwei, Zhao Yang, Qin Yufeng, Jin Guangfu, Xu Xiaoqun, Zhu Hairong, Shen Hongbing, Wang Xinru, Hu Zhibing, Xia Yank |
Effects of NRG1 Polymorphisms on Hirschsprung's Disease Susceptibility: A Meta-analysis. Scientific reports 2017 Aug 7 (1): 9913. Jiang Meng, Li Changli, Cao Guoqing, Yang Dehua, Zhang Xi, Yang Li, Li Shuai, Tang Shao-T |
GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR). Gene 2018 Jul . Haase Michael G, Schulze Annekatrin, Grover Sandeep, Kemnitz Ivonne, König Inke R, Fitze Gui |
Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2018 Apr . Li Yanhong, Liu Hui, Dong Yub |
Identification of two novel PCDHA9 mutations associated with Hirschsprung's disease. Gene 2018 2 658 96-104. Shen Qiyang, Zhang Hua, Su Yang, Wen Zechao, Zhu Zhongxian, Chen Guanglin, Peng Lei, Du Chunxia, Xie Hua, Li Hongxing, Lv Xiaofeng, Lu Changgui, Xia Yankai, Tang Weibi |
Associations of SLC6A20 genetic polymorphisms with Hirschsprung's disease in a Southern Chinese population. Bioscience reports 2019 Jul . Xie Xiaoli, He Qiuming, Huang Lihua, Li Le, Yao Yuxiao, Xia Huimin, Zhao Jinglu, Zhong Wei, Zhang Y |
Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2019 6 31 (11): e13665. Yang Wendy, Chen Szu-Chieh, Lai Jin-Yao, Ming Yung-Ching, Chen Jeng-Chang, Chen Pei-Lu |
Association of Neuregulin 1 rs7835688?G?>?C, rs16879552 T?>?C and rs2439302?G?>?C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease. Fetal and pediatric pathology 2019 Nov 1-8. Hosseini-Jangjou Seyed Hamed, Dastgheib Seyed Alireza, Aflatoonian Majid, Amooee Abdolhamid, Bahrami Reza, Salehi Elham, Sadeghizadeh-Yazdi Jalal, Neamatzadeh Hosse |
RET fusions in solid tumors. Cancer treatment reviews 2019 11 81 101911. Li Andrew Y, McCusker Michael G, Russo Alessandro, Scilla Katherine A, Gittens Allison, Arensmeyer Katherine, Mehra Ranee, Adamo Vincenzo, Rolfo Christi |
Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung's Disease in Han Chinese Population. Frontiers in genetics 2020 8 11 738. Niu Wei-Bo, Bai Mei-Rong, Song Huan-Lei, Lu Yan-Jiao, Wu Wen-Jie, Gong Yi-Ming, Yu Xian-Xian, Wei Zhi-Liang, Yu Wen-Wen, Gu Bei-Lin, Cai Wei, Chu X |
Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population. Pediatric research 2020 May . Yu Xian-Xian, Chu Xun, Wu Wen-Jie, Wei Zhi-Liang, Song Huan-Lei, Bai Mei-Rong, Lu Yan-Jiao, Gu Bei-Lin, Gong Yi-Ming, Cai W |
A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children. African journal of paediatric surgery : AJPS 0 17 (3 & 4): 104-107. Kumari Madhu, Das Chhanda, Mukhopadhyay Madhumita, Patra Rishav Dev, Mitra Pradip Kumar, Mukhopadhyay Biswana |
Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene. Endocrine 2021 3 73 (1): 217-222. Machens Andreas, Lorenz Kerstin, Dralle Henni |
The role of GSTM1 gene polymorphism in pathophysiology, evaluation, and management of constipation of anorectal outlet obstruction. Cellular and molecular biology (Noisy-le-Grand, France) 2021 12 67 (3): 163-167. Wang Shuo, Fan Zhib |
Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population. Journal of clinical laboratory analysis 2021 Nov e24074. Liu Yanqing, Lan Chaoting, Li Bingxiao, Wang Ning, Zuo Xiaoyu, Huang Lihua, Wu Yuxin, Zhu Y |
Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity. Journal of pediatric genetics 2022 8 11 (3): 240-244. Higuchi Tsukasa, Yoshizawa Kazuki, Hatata Tomoko, Yoshizawa Katsumi, Takamizawa Shigeru, Kobayashi Jun, Kubota Noriko, Hidaka Ei |
Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children. Translational pediatrics 2022 Jun 11 (6): 789-796. Wang Ning, Xi Jiaojiao, Lan Chaoting, Wu Yuxin, Zhu Yun, Zuo Xiaoyu, Zhang Y |
The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease. Frontiers in cell and developmental biology 2023 7 11 1184799. Shuiqing Chi, Shuai Li, Guoqing Cao, Jialing Guo, Yunqiao Han, Yun Zhou, Xi Zhang, Yibo Li, Zhibin Luo, Xiangyang Li, Liying Rong, Mengxin Zhang, Linglu Li, Shaotao Ta |
Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes. Clinical medicine insights. Pediatrics 2023 5 17 11795565231169556. Mary Ellen Fain, Adrianna L Westbrook, Ajay S Ka |
Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children. Clinical and experimental gastroenterology 2023 5 16 59-64. Bingtong Wang, Wenlin Fang, Dingjiang Qin, Qiuming He, Chaoting L |
Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children. Frontiers in pediatrics 2023 1 10 1056938. Lan Chaoting, Liu Yanqing, Wu Xiao, Wang Bingtong, Xin Songqing, He Qiuming, Zhong Wei, Liu Zipe |
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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- Page last updated:Apr 22, 2024
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