Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Anne C, Goodeve"'
Autor:
Ahmad H. Mufti, Kenichi Ogiwara, Laura L. Swystun, Jeroen C.J. Eikenboom, Ulrich Budde, Wilma M. Hopman, Christer Halldén, Jenny Goudemand, Ian R. Peake, Anne C. Goodeve, David Lillicrap, Daniel J. Hampshire
Publikováno v:
Blood Advances, Vol 2, Iss 13, Pp 1585-1594 (2018)
Abstract: Plasma levels of von Willebrand factor (VWF) vary considerably in the general population and this variation has been linked to several genetic and environmental factors. Genetic factors include 2 common single nucleotide variants (SNVs) loc
Externí odkaz:
https://doaj.org/article/e7b7ce86e1684fcc80e00e70075d1ced
Autor:
Julia C. van Campen, Elizabeth S. A. Sollars, Rebecca C. Thomas, Clare M. Bartlett, Antonio Milano, Matthew D. Parker, Jennifer Dawe, Peter R. Winship, Gerrard Peck, Darren Grafham, Richard J. Kirk, James R. Bonham, Anne C. Goodeve, Ann Dalton
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 4, p 40 (2019)
Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National
Externí odkaz:
https://doaj.org/article/faab368d1f5843599429ae83d0b11d6f
Autor:
Jacqueline Stockley, Shaista P Nisar, Vincenzo C Leo, Essa Sabi, Margaret R Cunningham, Jeroen C Eikenboom, Stefan Lethagen, Reinhard Schneppenheim, Anne C Goodeve, Steve P Watson, Stuart J Mundell, Martina E Daly, GAPP Study in Collaboration with the MCMDM-1VWD Study Group
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0143913 (2015)
The clinical expression of type 1 von Willebrand disease may be modified by co-inheritance of other mild bleeding diatheses. We previously showed that mutations in the platelet P2Y12 ADP receptor gene (P2RY12) could contribute to the bleeding phenoty
Externí odkaz:
https://doaj.org/article/11d6dee9ef184a37a4aee9385245570a
Publikováno v:
Haematologica, Vol 98, Iss 12 (2013)
The activity of the factor VIII coagulation protein can be measured by three methods: a one or two-stage clotting assay and a chromogenic assay. The factor VIII activity of most individuals with mild hemophilia A is the same regardless of which metho
Externí odkaz:
https://doaj.org/article/23349b6e05214dbe8cfc824280b0e4b0
Autor:
Daniel J. Hampshire, Anne C. Goodeve
Publikováno v:
Haematologica, Vol 96, Iss 6 (2011)
Externí odkaz:
https://doaj.org/article/e751591202524d5cb8e49a8eda010b28
Autor:
Daniel J. Hampshire, George J. Burghel, Jenny Goudemand, Laura C. S. Bouvet, Jeroen C. J. Eikenboom, Reinhard Schneppenheim, Ulrich Budde, Ian R. Peake, Anne C. Goodeve
Publikováno v:
Haematologica, Vol 95, Iss 12 (2010)
Externí odkaz:
https://doaj.org/article/62f86cd2f2b34f259b073543b6ec6dba
Autor:
Nasios Fourouclas, Juan Li, Daniel C. Gilby, Peter J. Campbell, Philip A. Beer, Elaine M. Boyd, Anne C. Goodeve, David Bareford, Claire N. Harrison, John T. Reilly, Anthony R. Green, Anthony J. Bench
Publikováno v:
Haematologica, Vol 93, Iss 11 (2008)
Background The JAK2 V617F mutation can be found in patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Mutation or methylation of other components of JAK/STAT signaling, such as the negative regulators suppressor
Externí odkaz:
https://doaj.org/article/37dab90e88ce4965aefef73f01418a5f
Autor:
Ahmad H, Mufti, Kenichi, Ogiwara, Laura L, Swystun, Jeroen C J, Eikenboom, Ulrich, Budde, Wilma M, Hopman, Christer, Halldén, Jenny, Goudemand, Ian R, Peake, Anne C, Goodeve, David, Lillicrap, Daniel J, Hampshire
Publikováno v:
Blood advances. 2(13)
VWF variants c.2365A>G and c.2385T>C independently influence VWF biosynthesis and clearance, increasing VWF plasma levels.Commonly inherited VWF variants can directly influence the protein and may contribute to hemostatic and thrombotic disease risk/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ee030072e3c9d38cf124906f86f84826
https://pubmed.ncbi.nlm.nih.gov/29980574
https://pubmed.ncbi.nlm.nih.gov/29980574
Autor:
Peter J M, Valk, David T, Bowen, Marion E, Frew, Anne C, Goodeve, Bob, Löwenberg, John T, Reilly
Publikováno v:
Haematologica. 89(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38c0d2cd4f711968b666f31aad9338c9
https://pubmed.ncbi.nlm.nih.gov/14754614
https://pubmed.ncbi.nlm.nih.gov/14754614
Publikováno v:
British journal of haematology. 123(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::453ff60a3179627b5dab63bfc67bdd9b
https://pubmed.ncbi.nlm.nih.gov/14616987
https://pubmed.ncbi.nlm.nih.gov/14616987