Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Abnormalities and PAH[original query] |
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[Six novel mutations in PAH gene detected by sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004 Aug 21 (4): 305-8. Zhang Zhi, He Yun-shao, Peng Shu-xin, Wang Fang-hua, Jiang Jian-hui, Jing Ren-jing, Cheng Gang, Xu J |
Epistatic interactions in idiopathic pulmonary arterial hypertension. Indian journal of human genetics 2012 Jan 18 (1): 56-61. Vadapalli Shivani, Satyanarayana M L, Chaitra K L, Rani H Surekh, Sastry B K S, Nallari Pratib |
Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population. Archives of oral biology 2014 Apr 59 (4): 363-9. Hozyasz Kamil K, Mostowska Adrianna, Wójcicki Piotr, Lasota Agnieszka, Wo?kowicz Anna, Dunin-Wilczy?ska Izabella, Jagodzi?ski Pawe? |
Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China. Journal of pediatric endocrinology & metabolism : JPEM 2017 Nov 30 (12): 1305-1310. Wang Lin, Wang Xiaobin, He Bin, Cai Na, Li Wei, Lou Chao, Xin Shuwen, Wu Qiuhua, Yu Wenwen, Qiang Ro |
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Scandinavian journal of clinical and laboratory investigation 2018 2 78 (3): 211-218. Zhang Zhan, Gao Jun-Jun, Feng Yang, Zhu Lin-Lin, Yan Huan, Shi Xu-Feng, Chang Ai-Min, Shi Ying, Wang Pi |
Heat-shock protein 70 (HSP70) polymorphisms affect the risk of coke-oven emission-induced neurobehavioral damage. Neurotoxicology 2019 Nov . Tian Feng-Jie, Li Wei-Xing, Lyu Yi, Zhang Ping, Mu Jian-Bing, Pei Qiu-Ling, Zheng Jin-Pi |
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. BMC pulmonary medicine 2020 5 20 (1): 150. Zeng Qixian, Yang Hang, Liu Bingyang, Ma Yanyun, Liu Zhihong, Chen Qianlong, Li Wenke, Luo Qin, Zhao Zhihui, Zhou Zhou, Xiong Changmi |
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circulation. Genomic and precision medicine 2020 12 14 (1): e003155. Swietlik Emilia M, Greene Daniel, Zhu Na, Megy Karyn, Cogliano Marcella, Rajaram Smitha, Pandya Divya, Tilly Tobias, Lutz Katie A, Welch Carrie C L, Pauciulo Michael W, Southgate Laura, Martin Jennifer M, Treacy Carmen M, Penkett Christopher J, Stephens Jonathan C, Bogaard Harm J, Church Colin, Coghlan Gerry, Coleman Anna W, Condliffe Robin, Eichstaedt Christina A, Eyries Mélanie, Gall Henning, Ghio Stefano, Girerd Barbara, Grünig Ekkehard, Holden Simon, Howard Luke, Humbert Marc, Kiely David G, Kovacs Gabor, Lordan Jim, Machado Rajiv D, Mackenzie Ross Robert V, McCabe Colm, Moledina Shahin, Montani David, Olschewski Horst, Pepke-Zaba Joanna, Price Laura, Rhodes Christopher J, Seeger Werner, Soubrier Florent, Suntharalingam Jay, Toshner Mark R, Vonk Noordegraaf Anton, Wharton John, Wild James M, Wort Stephen John, Lawrie Allan, Wilkins Martin R, Trembath Richard C, Shen Yufeng, Chung Wendy K, Swift Andrew J, Nichols William C, Morrell Nicholas W, Gräf Stef |
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension. Radiology 2023 5 222488. Qinhua Zhao, Rui Zhang, Jingyun Shi, Huikang Xie, Liping Zhang, Fei Li, Rong Jiang, Wenhui Wu, Cijun Luo, Hongling Qiu, Huiting Li, Jing He, Ping Yuan, JinMing Liu, Sugang Gong, Lan Wa |
Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. Pediatric radiology 2024 1 . Helio V Neves da Silva, Jason P Weinman, Erin K Englund, Robin R Deterding, Dunbar D Ivy, Lorna P Brow |
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- Page last updated:Apr 22, 2024
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