Literature DB >> 15155469

Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study.

Peadar N Kirke1, James L Mills, Anne M Molloy, Lawrence C Brody, Valerie B O'Leary, Leslie Daly, Sharon Murray, Mary Conley, Philip D Mayne, Owen Smith, John M Scott.   

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Year:  2004        PMID： 15155469      PMCID： PMC437144          DOI： 10.1136/bmj.38036.646030.EE

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  5 in total

1.  Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects.

Authors:  G L Johanning; T Tamura; K E Johnston; K D Wenstrom
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

2.  The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.

Authors:  D C Shields; P N Kirke; J L Mills; D Ramsbottom; A M Molloy; H Burke; D G Weir; J M Scott; A S Whitehead
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

Review 3.  5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.

Authors:  L D Botto; Q Yang
Journal:  Am J Epidemiol       Date:  2000-05-01       Impact factor: 4.897

4.  Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis.

Authors:  David S Wald; Malcolm Law; Joan K Morris
Journal:  BMJ       Date:  2002-11-23

5.  Homocysteine metabolism in pregnancies complicated by neural-tube defects.

Authors:  J L Mills; J M McPartlin; P N Kirke; Y J Lee; M R Conley; D G Weir; J M Scott
Journal:  Lancet       Date:  1995-01-21       Impact factor: 79.321
  5 in total
  35 in total

Review 1.  The changing incidence of myelomeningocele and its impact on pediatric neurosurgery: a review from the Children's Memorial Hospital.

Authors:  Robin M Bowman; Vanda Boshnjaku; David G McLone
Journal:  Childs Nerv Syst       Date:  2009-03-27       Impact factor: 1.475

2.  Variants in MTHFR gene and neural tube defects susceptibility in China.

Authors:  Yongxin Wang; Yuan Liu; Wenyu Ji; Hu Qin; Hao Wu; Danshu Xu; Tukebai Turtuohut; Zengliang Wang
Journal:  Metab Brain Dis       Date:  2015-04-10       Impact factor: 3.584

3.  Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.

Authors:  F Pangilinan; A Mitchell; J VanderMeer; A M Molloy; J Troendle; M Conley; P N Kirke; M Sutton; J M Sequeira; E V Quadros; J M Scott; J L Mills; L C Brody
Journal:  J Med Genet       Date:  2010-06-24       Impact factor: 6.318

4.  Potential association between infertility and spinal neural tube defects in offspring.

Authors:  Yvonne W Wu; Lisa A Croen; Louis Henning; Daniel V Najjar; Michael Schembri; Mary S Croughan
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2006-10

5.  Folate and vitamin B12-related genes and risk for omphalocele.

Authors:  James L Mills; Tonia C Carter; Denise M Kay; Marilyn L Browne; Lawrence C Brody; Aiyi Liu; Paul A Romitti; Michele Caggana; Charlotte M Druschel
Journal:  Hum Genet       Date:  2011-11-25       Impact factor: 4.132

6.  Testing for genetic association with constrained models using triads.

Authors:  J F Troendle; K F Yu; J L Mills
Journal:  Ann Hum Genet       Date:  2009-01-28       Impact factor: 1.670

Review 7.  The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.

Authors:  Anne M Molloy; Lawrence C Brody; James L Mills; John M Scott; Peadar N Kirke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-04

8.  Genetic selection? A study of individual variation in the enzymes of folate metabolism.

Authors:  Barbara A Jennings; Gavin A Willis; Jane Skinner; Caroline L Relton
Journal:  BMC Med Genet       Date:  2010-02-01       Impact factor: 2.103

9.  Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.

Authors:  Jufen Liu; Yali Zhang; Lei Jin; Guoxing Li; Linlin Wang; Yanping Bao; Yunting Fu; Zhiwen Li; Le Zhang; Rongwei Ye; Aiguo Ren
Journal:  Metab Brain Dis       Date:  2014-07-04       Impact factor: 3.584

10.  Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.

Authors:  Tonia C Carter; Anne M Molloy; Faith Pangilinan; James F Troendle; Peadar N Kirke; Mary R Conley; David J A Orr; Michael Earley; Eamon McKiernan; Ena C Lynn; Anne Doyle; John M Scott; Lawrence C Brody; James L Mills
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-02
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