Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Disease and MMACHC[original query] |
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| [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2009 Mar 47 (3): 189-93. Wang Fei, Han Lian-shu, Hu Yu-hui, Yang Yan-ling, Ye Jun, Qiu Wen-juan, Zhang Ya-fen, Gao Xiao-lan, Wang Yu, Gu Xue-f |
| Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human mutation 2009 Jul 30 (7): 1072-81. Lerner-Ellis Jordan P, Anastasio Natascia, Liu Junhui, Coelho David, Suormala Terttu, Stucki Martin, Loewy Amanda D, Gurd Scott, Grundberg Elin, Morel Chantal F, Watkins David, Baumgartner Matthias R, Pastinen Tomi, Rosenblatt David S, Fowler Bri |
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
The American journal of clinical nutrition 2013 Sep 98 (3): 668-76. van Meurs Joyce B J, Pare Guillaume, Schwartz Stephen M, Hazra Aditi, Tanaka Toshiko, Vermeulen Sita H, Cotlarciuc Ioana, Yuan Xin, Mälarstig Anders, Bandinelli Stefania, Bis Joshua C, Blom Henk, Brown Morris J, Chen Constance, Chen Yii-Der, Clarke Robert J, Dehghan Abbas, Erdmann Jeanette, Ferrucci Luigi, Hamsten Anders, Hofman Albert, Hunter David J, Goel Anuj, Johnson Andrew D, Kathiresan Sekar, Kampman Ellen, Kiel Douglas P, Kiemeney Lambertus A L M, Chambers John C, Kraft Peter, Lindemans Jan, McKnight Barbara, Nelson Christopher P, O'Donnell Christopher J, Psaty Bruce M, Ridker Paul M, Rivadeneira Fernando, Rose Lynda M, Seedorf Udo, Siscovick David S, Schunkert Heribert, Selhub Jacob, Ueland Per M, Vollenweider Peter, Waeber Gérard, Waterworth Dawn M, Watkins Hugh, Witteman Jacqueline C M, den Heijer Martin, Jacques Paul, Uitterlinden Andre G, Kooner Jaspal S, Rader Dan J, Reilly Muredach P, Mooser Vincent, Chasman Daniel I, Samani Nilesh J, Ahmadi Kourosh |
| Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS genetics 2013 Jun 9 (6): e1003530. Grarup Niels, Sulem Patrick, Sandholt Camilla H, Thorleifsson Gudmar, Ahluwalia Tarunveer S, Steinthorsdottir Valgerdur, Bjarnason Helgi, Gudbjartsson Daniel F, Magnusson Olafur T, Sparsø Thomas, Albrechtsen Anders, Kong Augustine, Masson Gisli, Tian Geng, Cao Hongzhi, Nie Chao, Kristiansen Karsten, Husemoen Lise Lotte, Thuesen Betina, Li Yingrui, Nielsen Rasmus, Linneberg Allan, Olafsson Isleifur, Eyjolfsson Gudmundur I, Jørgensen Torben, Wang Jun, Hansen Torben, Thorsteinsdottir Unnur, Stefánsson Kari, Pedersen Ol |
| [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015 Sep 17 (9): 965-70. Qi Yan-Hua, Qi Jian-Guang, Liu Yu-Peng, Yan Hui, Liu Xue-Qin, Zhang Xin, Xiao Hui-Jie, Yang Yan-Ling, DU Jun-B |
| Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. Clinical biochemistry 2016 Aug . Devi Akella Radha Rama, Naushad Shaik Mohamm |
| Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. Journal of human genetics 2018 Mar 63 (3): 327-337. Raffield Laura M, Ellis Jaclyn, Olson Nels C, Duan Qing, Li Jin, Durda Peter, Pankratz Nathan, Keating Brendan J, Wassel Christina L, Cushman Mary, Wilson James G, Gross Myron D, Tracy Russell P, Rich Stephen S, Reiner Alex P, Li Yun, Willis Monte S, Lange Ethan M, Lange Leslie |
| [Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 7 57 (8): 620-624. Tang X L, Yang H M, Liu H, Xu H, Zhou C J, Li H M, Zhao S Y, Liu J |
| Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. Frontiers in genetics 2019 2 9 726. Zhou Wei, Li Huizhong, Wang Chuanxia, Wang Xiuli, Gu Maoshe |
| Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. Molecular biology reports 2019 2 46 (1): 271-285. Keyfi Fatemeh, Abbaszadegan Mohammad R, Sankian Mojtaba, Rolfs Arndt, Orolicki Slobodanka, Pournasrollah Mohammad, Alijanpour Morteza, Varasteh Abdolre |
| Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia. Scientific reports 2020 7 10 (1): 12509. Zhang Chuan, Wang Xing, Hao Shengju, Zhang Qinghua, Zheng Lei, Zhou Bingbo, Liu Furong, Feng Xuan, Chen Xue, Ma Panpan, Chen Cuixia, Cao Zongfu, Ma |
| Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 10 42 (5): 1987-1993. Chang Kai-Jie, Zhao Zhe, Shen Hong-Rui, Bing Qi, Li Nan, Guo Xuan, Hu Ji |
| Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
| [Genetic analysis of 21 cases of methylmalonic acidemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 362-365. Wang Xing, Sun Xiaohong, Hao Shengju, Liu Furong, Zhang Qinghua, Zheng Lei, Zhang Chu |
| [Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
| Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology. BMC medical genomics 2024 8 17 (1): 214. Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-Min H |
| Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations. European journal of medical research 2024 11 29 (1): 540. Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu |
| Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method. Pediatric research 2025 1 . Ping Zheng, Chaoji Yu, Lina Xie, Xinna Ji, Shuo Feng, Yanyan Gao, Xing Wei, Wenli Wu, Qian Ch |
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