Search Results - "Tyerman, Gayle"
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Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
Published in American journal of obstetrics and gynecology (01-10-2009)“…Objective We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their…”
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Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele
Published in Birth defects research. A Clinical and molecular teratology (01-10-2012)“…BACKGROUND A common and severe neural tube defect (NTD) phenotype, myelomeningocele (MM), results from the defective closure of the caudal end of the neural…”
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Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyelocele
Published in Birth defects research. A Clinical and molecular teratology (01-08-2010)“…Background Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic development. Periconceptional folic acid supplementation is…”
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Association of retinoic acid receptor genes with meningomyelocele
Published in Birth defects research. A Clinical and molecular teratology (01-01-2011)“…BACKGROUND Neural tube defects (NTDs) occur in as many as 0.5–2 per 1000 live births in the United States. One of the most common and severe neural tube…”
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Genes in glucose metabolism and association with spina bifida
Published in Reproductive sciences (Thousand Oaks, Calif.) (01-01-2008)“…The authors test single nucleotide polymorphisms (SNPs) in coding sequences of 12 candidate genes involved in glucose metabolism and obesity for associations…”
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Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals
Published in Birth defects research. A Clinical and molecular teratology (01-10-2008)“…BACKGROUND: Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental…”
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The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions
Published in Annals of human genetics (01-11-2007)“…Summary We examined the BRCA1 gene in 268 patients, and their parents, with a specific diagnosis of spina bifida meningomyelocele (SBMM). We genotyped two…”
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Agammaglobulinemia associated with BCR− B cells and enhanced expression of CD19
Published in Blood (18-08-2011)“…Expression of a BCR is critical for B-cell development and survival. We have identified 4 patients with agammaglobulinemia and markedly reduced but detectable…”
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Agammaglobulinemia associated with BCR- B cells and enhanced expression of CD 19
Published in Blood (2011)Get full text
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Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot)
Published in Clinical orthopaedics and related research (01-09-2007)“…Idiopathic talipes equinovarus, also known as clubfoot, is a common birth defect occurring in one of 1000 live births. It is a complex disorder in which…”
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Genes in glucose metabolism and their association with spina bifida
Published in American journal of obstetrics and gynecology (01-12-2006)Get full text
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575: Results of a genetic association study of genes in folate metabolism and spina bifida
Published in American journal of obstetrics and gynecology (2008)Get full text
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