Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: 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 |
Hydrocephalus in cblC type methylmalonic acidemia. Metabolic brain disease 2018 12 34 (2): 451-458. Zhang Kaihui, Gao Min, Wang Guangyu, Shi Yingying, Li Xiaoying, Lv Yvqiang, Zhang Guangye, Gai Zhongtao, Liu |
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 |
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases. Orphanet journal of rare diseases 2020 Aug 15 (1): 200. He Ruxuan, Mo Ruo, Shen Ming, Kang Lulu, Song Jinqing, Liu Yi, Chen Zhehui, Zhang Hongwu, Yao Hongxin, Liu Yupeng, Zhang Yao, Dong Hui, Jin Ying, Li Mengqiu, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Li Xiyuan, Zhang Huifeng, Huang Min, Zhang Chunyan, Jiang Yuwu, Liang Desheng, Tian Yaping, Yang Yanli |
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 |
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis. Molecular genetics & genomic medicine 2020 3 8 (6): e1221. Wang Chao, Liu Yang, Cai Fengying, Zhang Xinjie, Xu Xiaowei, Li Yani, Zou Qianqian, Zheng Jie, Zhang Yuqin, Guo Wei, Cai Chunquan, Shu Jian |
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 |
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect. Amino acids 2021 1 53 (2): 253-264. Kaur Rajdeep, Attri Savita Verma, Saini Arushi Gahlot, Sankhyan Nave |
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 694-697. Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdo |
[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 |
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B. Clinical epigenetics 2022 4 14 (1): 52. Oussalah Abderrahim, Siblini Youssef, Hergalant Sébastien, Chéry Céline, Rouyer Pierre, Cavicchi Catia, Guerrini Renzo, Morange Pierre-Emmanuel, Trégouët David, Pupavac Mihaela, Watkins David, Pastinen Tomi, Chung Wendy K, Ficicioglu Can, Feillet François, Froese D Sean, Baumgartner Matthias R, Benoist Jean-François, Majewski Jacek, Morrone Amelia, Rosenblatt David S, Guéant Jean-Lou |
[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 |
Clinical relevance of vitamin B12 level and vitamin B12 metabolic gene variation in pulmonary tuberculosis. Frontiers in immunology 2022 13 947897. Zhang Tian-Ping, Li Rui, Wang Li-Jun, Tang Fei, Li Hong-Mi |
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations. Frontiers in genetics 2022 1 12 750719. Lv Weigang, Liang Lili, Chen Xin, Li Zhuo, Liang Desheng, Zhu Huimin, Teng Yanling, Wu Weijuan, Wu Lingqian, Han Lians |
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns. European journal of medical genetics 2023 9 66 (10): 104836. Yu-Yu Li, Jia Xu, Xue-Cheng Sun, Hong-Yu Li, Kai |
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1086-1092. Chongfen Chen, Yaodong Zhang, Lili Ge, Lei Liu, Xiaoman Zhang, Shiyue Mei, Shuying L |
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- Page last updated:Apr 16, 2024
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