Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Megan E. Begbie"'
Publikováno v:
Journal of Medical Genetics. 42:577-582
Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in endoglin (HHT type 1) and ALK-1 (HHT type 2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27a3a0eeed36a131aae7f39350efe024
https://doi.org/10.1136/jmg.2004.028712
https://doi.org/10.1136/jmg.2004.028712
Autor:
Varsha Bhakta, Asif Mamdani, Louisse J. Eltringham-Smith, Megan E. Begbie, William P. Sheffield, Gonzalo Hortelano, Sharon Gataiance
Publikováno v:
Thrombosis and Haemostasis. 94:1138-1147
SummaryThe factors responsible for the removal of injected factor IX (fIX) from the blood of individuals with haemophilia B are only partly understood, and may include binding to endothelial or subendothelial sites, passive extravasation related to s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e147da53c04840320e55ca43614e3c1e
https://doi.org/10.1160/th04-03-0201
https://doi.org/10.1160/th04-03-0201
Autor:
William P. Sheffield, Sharon Gataiance, Gonzalo Hortelano, Frederick A. Ofosu, Megan E. Begbie, Peter S. Liaw, Louise Eltringham-Smith, Rina A. Leyva, Asif Mamdani
Publikováno v:
British Journal of Haematology. 126:565-573
Summary Individuals with haemophilia B require replacement therapy with recombinant or plasma-derived coagulation factor IX (fIX). More benefit per injected dose might be obtained if fIX clearance could be slowed. The contribution of overall size to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c26fdd3e2bc7b70d8b35a7ae57afaec7
https://doi.org/10.1111/j.1365-2141.2004.05106.x
https://doi.org/10.1111/j.1365-2141.2004.05106.x
Publikováno v:
Thrombosis Research. 113:163-173
Introduction : Antithrombin (AT) and heparin cofactor II (HCII) are plasma glycoproteins and serpins that inhibit thrombin. We showed [Blood 86 (1995) 3461] that recombinant rabbit AT containing the Utah mutation of AT, P407L, was inefficiently secre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8407e28ed8bf67103d207f3187ec336d
https://doi.org/10.1016/j.thromres.2004.02.015
https://doi.org/10.1016/j.thromres.2004.02.015
Autor:
Michael D. Jones, Megan E. Begbie, Claire L. Shovlin, IG Mollet, Laurence Game, Adam Giess, Fatima S Govani
Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ea127c650d61bdbec9238188a64113
http://hdl.handle.net/10044/1/22166
http://hdl.handle.net/10044/1/22166
Introduction: Hereditary haemorrhagic telangiectasia (HHT) causes chronic nasal and gastrointestinal haemorrhage. Prothrombotic agents are commonly used for severe haemorrhage. Thrombotic risks have not been defined. Methods To identify prothrombotic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db67cf7aac898bbd4f02e59f95aaad5
http://hdl.handle.net/10044/1/22176
http://hdl.handle.net/10044/1/22176
Publikováno v:
Perspectives in biology and medicine. 49(1)
How will developments in genetic knowledge affect the classification of disease? Leaders in genetics have suggested that knowledge of the role of genes in disease can determine nosology. Diseases might be defined by genotype, thus avoiding the limita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbfe5f7e8e8f75fbb682779c4be7bd40
https://pubmed.ncbi.nlm.nih.gov/16489280
https://pubmed.ncbi.nlm.nih.gov/16489280
Autor:
William P, Sheffield, Asif, Mamdani, Gonzalo, Hortelano, Sharon, Gataiance, Louise, Eltringham-Smith, Megan E, Begbie, Rina A, Leyva, Peter S, Liaw, Frederick A, Ofosu
Publikováno v:
British journal of haematology. 126(4)
Individuals with haemophilia B require replacement therapy with recombinant or plasma-derived coagulation factor IX (fIX). More benefit per injected dose might be obtained if fIX clearance could be slowed. The contribution of overall size to fIX clea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06f442c30c718361991bcdd11358d000
https://pubmed.ncbi.nlm.nih.gov/15287951
https://pubmed.ncbi.nlm.nih.gov/15287951
Autor:
Claire L. Shovlin, Megan E. Begbie
Publikováno v:
Genetics of Angiogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09dd046729a143999511bb1beb209f9b
https://doi.org/10.1201/9780203427811-9
https://doi.org/10.1201/9780203427811-9