Browsing by Author "SCOTT, JOHN"
Now showing items 1-8 of 8
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Analysis of the MTHFD1 promoter and risk of neural tube defects
SCOTT, JOHN; MOLLOY, ANNE (2009)Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/ 5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a ... -
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
MOLLOY, ANNE; SCOTT, JOHN (2008)Genetic and environmental factors contribute to the etiology of neural tube defects (NTDs). While periconceptional folic acid supplementation is known to significantly reduce the risk of NTDs, folate metabolic pathway ... -
Deriving a useful packed cell volume estimate from haemoglobin analysis
MOLLOY, ANNE; SCOTT, JOHN (1994)A method is described whereby the packed cell volume (PCV) of a blood sample can be estimated from the haemoglobin concentration. The method defines the relation existing between haemoglobin concentration and the PCV of ... -
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
MOLLOY, ANNE; SCOTT, JOHN; ORR, DAVID (2008)BACKGROUND Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate-related genes associated ... -
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
MOLLOY, ANNE; SCOTT, JOHN (2010)Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant ... -
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
MOLLOY, ANNE; SCOTT, JOHN; ORR, DAVID (2010)BACKGROUND Suggestive, but not conclusive, studies implicate many genetic variants in oral cleft etiology. We used a large, ethnically homogenous study population to test whether reported associations between nonsyndromic ... -
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
MOLLOY, ANNE; SCOTT, JOHN (1999)Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of ... -
Uncoupling protein 2 polymorphisms as risk factors for NTDs
MOLLOY, ANNE; SCOTT, JOHN (2009)Both environmental and genetic factors are involved in the etiology of neural tube defects (NTDs). Inadequate folate intake and obesity are important environmental risk factors. Several folate-related genetic variants have ...