Zobrazeno 1 - 10
of 19
pro vyhledávání: '"N. J. Beauchamp"'
Publikováno v:
British Journal of Haematology. 125:647-654
The molecular basis of protein S (PS) deficiency was investigated in seven of eight donors identified with persistently low plasma PS levels from a survey of PS levels in 3788 Scottish blood donors. PROS1 gene analysis identified at least one defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bcea59223948ca3ba9382dc1b1ca6aa
https://doi.org/10.1111/j.1365-2141.2004.04961.x
https://doi.org/10.1111/j.1365-2141.2004.04961.x
Autor:
G J Miller, P Bayliss, Martina E. Daly, K. K. Hampton, Michael Makris, N. J. Beauchamp, P. C. Cooper, F. E. Preston, M Leach, Ian R. Peake
Publikováno v:
Blood. 95:1935-1941
Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombophilic conditions, it remains the most difficult to diagnose because of phenotypic variability, which can lead to inconclusive results. We have overco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::745afefd73eca2b5ca23e51240b6fec9
https://doi.org/10.1182/blood.v95.6.1935
https://doi.org/10.1182/blood.v95.6.1935
Publikováno v:
Thrombosis and Haemostasis. 83:715-721
SummaryThe molecular basis of quantitative antithrombin deficiency was investigated in four families predicted to have major antithrombin gene rearrangements. A 1,442 bp deletion and insertion of the sequence 5’T(n = 38-40)GAGACG was characterised
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ec73306863843c8322e56f199f9622b
https://doi.org/10.1055/s-0037-1613898
https://doi.org/10.1055/s-0037-1613898
Autor:
Michael Makris, Timothy R. Dafforn, Hazel L. Fitton, Robin W. Carrell, Ian R. Peake, Robert N. Pike, L. Butler, Martina E. Daly, Aiwu Zhou, N. J. Beauchamp, F.E. Preston
Publikováno v:
Blood. 92:2696-2706
The inherent variability of conformational diseases is demonstrated by two families with different mutations of the same conserved aminoacid in antithrombin. Threonine 85 underlies the opening of the main β-sheet of the molecule and its replacement,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::765604ea7ffc06c2f02fc47f6de9ecb3
https://doi.org/10.1182/blood.v92.8.2696
https://doi.org/10.1182/blood.v92.8.2696
Autor:
N. J. Beauchamp, Isobel D. Walker, H. Gyde, Robin W. Carrell, Martina E. Daly, Robert Campbell Tait, David J. Perry, Paul Harper, K. Brown, F. E. Preston
Publikováno v:
Thrombosis and Haemostasis. 79:249-253
SummaryThirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA→TCA) resulting in an alanine to serine substitution. Six families (11 individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3dac8062a91b07f7857072d1cccd6434
https://doi.org/10.1055/s-0037-1614973
https://doi.org/10.1055/s-0037-1614973
Autor:
George J. Miller, Michael Makris, K. K. Hampton, N. J. Beauchamp, P Bayliss, Martina E. Daly, Ian R. Peake, F. E. Preston, P. C. Cooper
Publikováno v:
Thrombosis and Haemostasis. 78:1426-1429
SummaryThe presence of the 20210A allele of the prothrombin (PT) gene has recently been shown to be a risk factor for venous thromboembolism. This is probably mediated through increased plasma prothrombin levels. The aim of this study was to compare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c12d0d91f73527ad80f3be4bee502bd
https://doi.org/10.1055/s-0038-1665427
https://doi.org/10.1055/s-0038-1665427
Publikováno v:
Blood. 88:1700-1707
The molecular basis of type I or III Protein S deficiency has been investigated in three kindred also showing independent inheritance of factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was identified in the propositi and shown to s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf3a9dcfda3c0b478ba9c8111522ef79
https://doi.org/10.1182/blood.v88.5.1700.1700
https://doi.org/10.1182/blood.v88.5.1700.1700
Publikováno v:
British Journal of Haematology. 88:219-222
Recent findings have indicated the importance of factor V (FV) in causing resistance to activated protein C (APC) in a high proportion of patients with venous thrombosis. This prompted us to investigate whether resistance could be due to defective in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce194f0803eff12c6fd375894971508
https://doi.org/10.1111/j.1365-2141.1994.tb05005.x
https://doi.org/10.1111/j.1365-2141.1994.tb05005.x
Publikováno v:
AJNR Am J Neuroradiol
Summary: One of the strongest advantages of CT angiography (CTA) lies in its unique ability to display simultaneously the anatomy of the vascular system and the topographic relationships existing between the vessels and the neighboring structures. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06f16f34341c1be14a8195ab464cf665
https://pubmed.ncbi.nlm.nih.gov/11559508
https://pubmed.ncbi.nlm.nih.gov/11559508
Publikováno v:
Thrombosis and haemostasis. 83(5)
The molecular basis of quantitative antithrombin deficiency was investigated in four families predicted to have major antithrombin gene rearrangements. A 1,442 bp deletion and insertion of the sequence 5'T(n = 38-40)GAGACG was characterised in one ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57539a829dbc67904c9bd89dac0c3fe4
https://pubmed.ncbi.nlm.nih.gov/10823268
https://pubmed.ncbi.nlm.nih.gov/10823268