Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Neural Tube Defects and MTHFD1[original query] |
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Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. European journal of human genetics : EJHG 2006 Jun 14 (6): 768-72. Parle-McDermott Anne, Kirke Peadar N, Mills James L, Molloy Anne M, Cox Christopher, O'Leary Valerie B, Pangilinan Faith, Conley Mary, Cleary Laura, Brody Lawrence C, Scott John |
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Human mutation 2009 Feb 30 (2): 212-20. Christensen Karen E, Rohlicek Charles V, Andelfinger Gregor U, Michaud Jacques, Bigras Jean-Luc, Richter Andrea, Mackenzie Robert E, Rozen Ri |
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency. Human mutation 2009 Dec 30 (12): 1650-6. Parle-McDermott Anne, Pangilinan Faith, O'Brien Kirsty K, Mills James L, Magee Alan M, Troendle James, Sutton Marie, Scott John M, Kirke Peadar N, Molloy Anne M, Brody Lawrence |
Analysis of the MTHFD1 promoter and risk of neural tube defects. Human genetics 2009 Apr 125 (3): 247-56. Carroll Nicola, Pangilinan Faith, Molloy Anne M, Troendle James, Mills James L, Kirke Peadar N, Brody Lawrence C, Scott John M, Parle-McDermott An |
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC medical genetics 2012 13 (1): 62. Pangilinan Faith, Molloy Anne M, Mills James L, Troendle James F, Parle-McDermott Anne, Signore Caroline, O'Leary Valerie B, Chines Peter, Seay Jessica M, Geiler-Samerotte Kerry, Mitchell Adam, VanderMeer Julia E, Krebs Kristine M, Sanchez Angelica, Cornman-Homonoff Joshua, Stone Nicole, Conley Mary, Kirke Peadar N, Shane Barry, Scott John M, Brody Lawrence |
Maternal and infant gene-folate interactions and the risk of neural tube defects. American journal of medical genetics. Part A 2012 Oct 158A (10): 2439-46. Etheredge Analee J, Finnell Richard H, Carmichael Suzan L, Lammer Edward J, Zhu Huiping, Mitchell Laura E, Shaw Gary |
Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis. PloS one 2014 9 (6): e101169. Jiang Jianxin, Zhang Yanfei, Wei Liang, Sun Zhiyang, Liu Zhongm |
MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Apr 36 (4): 607-16. Zheng Jinyu, Lu Xiaocheng, Liu Hao, Zhao Penglai, Li Kai, Li Lix |
Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels. Medical science monitor : international medical journal of experimental and clinical research 2015 21 2630-7. Wu Jian, Bao Yihua, Lu Xiaolin, Wu Lihua, Zhang Ting, Guo Jin, Yang Ji |
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep . Christensen Karen E, Deng Liyuan, Bahous Renata H, Jerome-Majewska Loydie A, Rozen Ri |
Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring. Developmental medicine and child neurology 2015 Sep . Prasoona Kattekola R, Sunitha Tella, Srinadh Buragadda, Deepika Madireddy L N, Kumari Tiruvatturu M, Jyothy Ak |
Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep 103 (9): 754-62. Mazumdar Maitreyi, Valeri Linda, Rodrigues Ema G, Ibne Hasan Md Omar Sharif, Hamid Rezina, Paul Ligi, Selhub Jacob, Silva Fareesa, Mostofa Md Golam, Quamruzzaman Quazi, Rahman Mahmuder, Christiani David |
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018 Feb . Fang Yulian, Zhang Ruiping, Zhi Xiufang, Zhao Linsheng, Cao Lirong, Wang Yizheng, Cai Chunqu |
Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway. Italian journal of pediatrics 2019 Mar 45 (1): 37. Cai Chun-Quan, Fang Yu-Lian, Shu Jian-Bo, Zhao Lin-Sheng, Zhang Rui-Ping, Cao Li-Rong, Wang Yi-Zheng, Zhi Xiu-Fang, Cui Hua-Lei, Shi Ou-Yan, Liu W |
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- Page last updated:May 06, 2024
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