Susceptibility to spina bifida; an association study of five candidate genes

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

1993 • 3,693 citations

Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation

1992 • 3,145 citations

Prevention of neural tube defects: Results of the Medical Research Council vitamin study

1992 • 2,294 citations

Ciba foundation symposium

1964 • 2,217 citations

Analysis of Human Genetic Linkage.

1992 • 1,770 citations

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

1985 • 1,251 citations

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1995 • 870 citations

Homocysteine metabolism in pregnancies complicated by neural-tube defects

1995 • 641 citations

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1991 • 615 citations

Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects.

1993 • 486 citations

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

1996 • 468 citations

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

1996 • 399 citations

Epidemiology and Control of Neural Tube Defects

1992 • 296 citations

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.

1996 • 272 citations

Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis

1997 • 241 citations

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease

1997 • 195 citations

High prevalence of a mutation in the cystathionine beta-synthase gene.

1996 • 171 citations

Electrophoresis for Genotyping: Microtiter Array Diagonal Gel Electrophoresis on Horizontal Polyacrylamide Gels, Hydrolink, or Agarose

1994 • 170 citations

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

1995 • 162 citations

Clinical, genetic, and epidemiological factors in neural tube defects.

1988 • 139 citations

Common BRCA1 Variants and Susceptibility to Breast and Ovarian Cancer in the General Population

1997 • 137 citations

Folic Acid and the Prevention of Birth Defects

1996 • 135 citations

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations

1996 • 123 citations

Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice

1994 • 118 citations

Chimeric analysis of T (Brachyury) gene function

1993 • 118 citations

Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells

1993 • 108 citations

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

1997 • 98 citations

Neural tube defects and abnormal brain development in F52-deficient mice.

1996 • 94 citations

Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly.

1996 • 94 citations

The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27.

1996 • 84 citations

Are common mutations of cystathionine β‐synthase involved in the aetiology of neural tube defects?

1997 • 78 citations

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

1996 • 74 citations

Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice

1995 • 74 citations

Possible causal heterogeneity in spina bifida cystica

1985 • 69 citations

Genetic landmarks for defects in mouse neural tube closure

1997 • 59 citations

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida

1996 • 56 citations

Genetic Models of Mammalian Neural Tube Defects

2007 • 54 citations

A family showing apparent X linked inheritance of both anencephaly and spina bifida.

1988 • 45 citations

Possible X‐linked anencephaly and spina bifida—report of a kindred

1980 • 41 citations

DNA Polymorphisms in the Lactase Gene

1995 • 40 citations

Folate Metabolism in Pregnancy

1993 • 39 citations

Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida

1997 • 31 citations

The T transcription factor functions as a dimer and exhibits a common human polymorphism Gly‐177‐Asp in the conserved DNA‐binding domain

1997 • 29 citations

Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21–q23

1995 • 29 citations

Maternal-Fetal Folate Status and Neural Tube Defects: A Case Control Study

1995 • 27 citations

Risk of Neural Tube Defect-Affected Pregnancy Is Associated with a Block in Maternal One-Carbon Metabolism at the Level ofN-5-Methyltetrahydrofolate:Homocysteine Methyltransferase

1997 • 23 citations

Spina Bifida: Anticonvulsants and Other Maternal Influences

2007 • 21 citations

Buchbesprechungen

1994 • 8 citations