Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Dorothy Ramsbottom"'
Autor:
Ben, Mallinder, Susan, Pope, Jim, Thomson, Lesley-Ann, Beck, Andrew, McDonald, Dorothy, Ramsbottom, Denise Syndercombe, Court, Des, Vanhinsbergh, Michael, Barber, Ian, Evett, Kevin, Sullivan, Jonathan, Whitaker
Publikováno v:
Forensic Science International: Genetics. 58:102674
In 2014, the UK Forensic Science Regulator (FSR) commissioned a collaborative trial to assess the methods used by forensic service providers (FSPs) in the UK and Ireland for analysis, interpretation and reporting of mixed DNA profiles. Five different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca21d8467f5c457c590301a911e910ce
https://doi.org/10.1016/j.fsigen.2022.102674
https://doi.org/10.1016/j.fsigen.2022.102674
Autor:
Dorothy Ramsbottom, L. Mynett-Johnson, Peadar N. Kirke, Alexander S. Whitehead, Denis C. Shields, Yvonne H. Edwards, Cait Donoghue, John M. Scott, Anne M. Molloy, James L. Mills, Emmanuelle Pinjon, Donald G. Weir
Publikováno v:
American Journal of Medical Genetics. 92:206-211
The human T developmental gene has been implicated in the etiology of neural tube defects (NTDs) on the basis both of mouse studies of its homologue, T (Brachyury), and of allelic association in a Caucasian population. We have investigated the freque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1be41458f5b60e34581fbed261ea0b83
https://doi.org/10.1002/(sici)1096-8628(20000529)92:3<206::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000529)92:3<206::aid-ajmg9>3.0.co
Autor:
Peadar N. Kirke, John M. Scott, Alexander S. Whitehead, Dorothy Ramsbottom, Anne M. Molloy, James L. Mills, Helen Burke, Donald G. Weir, Denis C. Shields
Publikováno v:
The American Journal of Human Genetics. 64:1045-1055
SummaryRecent 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 NTD cases (n=271) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f48bed462ae018c5d8cf25f34cf2596
https://doi.org/10.1086/302310
https://doi.org/10.1086/302310
Autor:
Dorothy Ramsbottom, Mary Conley, Anne M. Molloy, Alexander S. Whitehead, James L. Mills, John M. Scott, Donald G. Weir, Helen Burke, Joseph McPartlin, Peadar N. Kirke
Publikováno v:
American Journal of Medical Genetics. 78:155-159
Thermolabile 5,10-methylenetetrahydrofolate reductase (MTHFR) is the first folate-related variant to be associated with an increased risk of neural tube defects (NTDs). The variant causes high plasma homocysteine levels and reduced red cell folate (R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c1ebfdb56ae2a6145ca6422239d5030
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<155::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<155::aid-ajmg11>3.0.co
Autor:
James L. Mills, Alexander S. Whitehead, John M. Scott, Sean Daly, Anne M. Molloy, Dorothy Ramsbottom, Mary Conley, Peadar N. Kirke, Donald G. Weir
Publikováno v:
The Lancet. 349:1591-1593
Summary Background The dietary reference values for folate, as for other nutrients, are targeted to the general and supposedly normal population, not people with special needs, such as those with genetic or metabolic abnormalities or diseases. Howeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2276f79a712a177a6ce861c09ca7183d
https://doi.org/10.1016/s0140-6736(96)12049-3
https://doi.org/10.1016/s0140-6736(96)12049-3
The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm
Autor:
David Bouchier-Hayes, David T. Croke, Dorothy Ramsbottom, Rafael A. Gafoor, Donna Sexton, Anne O'Neill
Publikováno v:
Clinical genetics. 51(4)
Abdominal aortic aneurysm (AAA) is a relatively common disease of the elderly presenting as progressive dilatation of the abdominal aorta. The condition shows a pronounced tendency to cluster in families, indicating a genetic component in the disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6aa0488df6cd7007eb772fe7ee24f09
https://pubmed.ncbi.nlm.nih.gov/9184245
https://pubmed.ncbi.nlm.nih.gov/9184245
Publikováno v:
Human Immunology. 47:98
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fd8afffc47ff683a50deff8d1450766
https://doi.org/10.1016/0198-8859(96)85227-x
https://doi.org/10.1016/0198-8859(96)85227-x
Autor:
Anne M. Molloy, James L. Mills, D. G. Weir, Dorothy Ramsbottom, Alexander S. Whitehead, John M. Scott, Paula M. Gallagher, P.N. Kirke
Publikováno v:
Europe PubMed Central
Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e388c8b457cc25973b0de3697fcae6
http://europepmc.org/abstract/med/9084933
http://europepmc.org/abstract/med/9084933
Autor:
Dorothy, Ramsbottom, Carcassi, C., de Solages, H., Abbal, M., Crouau-Roy, B., Clayton, J., Cambon-Thomsen, A., Contu, L
Publikováno v:
Human Immunology; 1996, Vol. 47 Issue: 1-2 p51-51, 1p
Autor:
Anne, Cambon-Thomsen, Dorothy, Ramsbottom, Nourdine, Bouzekri, Julia, Doutreix, Marie-Claude, Babron, Brigitte, Crouau-Roy, Jean-Michel, Dugoujon, Michel, Abbal
Publikováno v:
Human Immunology; 1996, Vol. 47 Issue: 1-2 p153-153, 1p