Výsledky vyhledávání - "Gayle H. Tyerman"

Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyelocele

Autor: Sabine Doebel, Kit Sing Au, Hope Northrup, Alanna C. Morrison, Jack M. Fletcher, Michelle R. O'Byrne, Jone Ing Lin, Kathryn K. Ostermaier, Gayle H. Tyerman

Publikováno v: Birth Defects Research Part A: Clinical and Molecular Teratology. 88:689-694

Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic development. Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e1e83eab837eb05eea019acc032087
https://doi.org/10.1002/bdra.20706

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Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals

Autor: Gayle H. Tyerman, Chester C. Tsai, Phong X. Tran, Kit Sing Au, Hope Northrup, Jack M. Fletcher, Paul T. Cirino, Amy W. Hampson, Kathryn K. Ostermaier, Jone Ing Lin, Sabine Doebel, Michelle R. O'Byrne, Alanna C. Morrison

Publikováno v: Birth Defects Research Part A: Clinical and Molecular Teratology. 82:692-700

BACKGROUND: Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the NTD and lead to a spectrum of physical and neurocognitive phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50792133cd34021d3dbdc5eb575be190
https://doi.org/10.1002/bdra.20499

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The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions

Autor: Terri M. King, Kit Sing Au, Hope Northrup, Irene Townsend, Jack M. Fletcher, Timothy J. Kirkpatrick, Gayle H. Tyerman, Christina Davidson, Lawrence C. Shimmin

Publikováno v: Annals of Human Genetics. 71:719-728

Summary We examined the BRCA1 gene in 268 patients, and their parents, with a specific diagnosis of spina bifida meningomyelocele (SBMM). We genotyped two intragenic microsatellite markers (BRCA1 D17S1323, BRCA1 D17S1322) and 2 single nucleotide poly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a371ddccec63ecbf6a88616a5ed4736
https://doi.org/10.1111/j.1469-1809.2007.00377.x

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Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

Autor: Gayle H. Tyerman, Carol Wise, Jacqueline T. Hecht, Audrey R. Ester, Susan H. Blanton

Publikováno v: Clinical Orthopaedics & Related Research. 462:32-37

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 multiple genes and environmental factors may play an etiologic role. Several chromosomal deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b1ee858ee605056c4f11836a141544
https://doi.org/10.1097/blo.0b013e318073c2d9

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Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics

Autor: E. J. Rott, N. K. Romaine, Gayle H. Tyerman, T. Z. Page, Hope Northrup, S. T. Jong, Susan H. Blanton, Kelly A. Volcik

Publikováno v: American Journal of Medical Genetics. 95:21-27

The C677T and A1298C mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene are each associated with reduced MTHFR activity. The C677T mutation in the heterozygous and homozygous state correlates with increased enzyme thermolability,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::704717bf05ef7613cbfb2322df9c47b3
https://doi.org/10.1002/1096-8628(20001106)95:1<21::aid-ajmg6>3.0.co

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Association of retinoic acid receptor genes with meningomyelocele

Autor: Kit Sing Au, Alanna C. Morrison, Hope Northrup, Phong X. Tran, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman

Publikováno v: Birth defects research. Part A, Clinical and molecular teratology. 91(1)

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 defects is meningomyelocele (MM) resulting from failed closure of the caudal end of the neural tube. MM has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::300ad5175825000ffa2cfc382e35aef5
https://pubmed.ncbi.nlm.nih.gov/21254357

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Genes in glucose metabolism and association with spina bifida

Autor: Terri M. King, Gayle H. Tyerman, Irene Townsend, Christina Davidson, Kit Sing Au, Hope Northrup, Jack M. Fletcher

Publikováno v: Reproductive sciences (Thousand Oaks, Calif.). 15(1)

The authors tested single nucleotide polymorphisms (SNPs) in coding sequences of candidate genes involved in glucose metabolism and obesity for associations with spina bifida (SB). Coding SNPs on 12 candidate genes was investigated. Genotyping was pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f669afb084e0425c98c65f079e5bad
https://pubmed.ncbi.nlm.nih.gov/18212354

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Testing for genetic associations with the PAX gene family in a spina bifida population

Autor: Hope Northrup, Susan H. Blanton, Kelly A. Volcik, M. C. Kruzel, R. J. Mier, I. T. Townsend, Gayle H. Tyerman

Publikováno v: American journal of medical genetics. 110(3)

Neural tube defects (NTDs) are among the most common severely disabling birth defects in the United States, affecting approximately 1–2 of every 1,000 live births. The etiology of NTDs is multifactorial, involving the combined action of both geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60daeea63c227c6f0a899876ec8a2c55
https://pubmed.ncbi.nlm.nih.gov/12116225

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