Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Martina E, Daly"'
Autor:
Joanne Lacey, Simon J. Webster, Paul R. Heath, Chris J. Hill, Lucinda Nicholson-Goult, Bart E. Wagner, Abdullah O. Khan, Neil V. Morgan, Michael Makris, Martina E. Daly
Publikováno v:
Haematologica, Vol 107, Iss 8 (2022)
Germline defects affecting the DNA-binding domain of the transcription factor FLI1 are associated with a bleeding disorder that is characterized by the presence of large, fused α-granules in platelets. We investigated whether the genes showing abnor
Externí odkaz:
https://doaj.org/article/5e8049395ae1492595e078a91e38c33b
Autor:
Neil V. Morgan, Martina E. Daly
Publikováno v:
Platelets, Vol 28, Iss 2, Pp 208-210 (2017)
Externí odkaz:
https://doaj.org/article/b0d1e5beca0241489b8decc5ddc9b9ab
Autor:
Ben Johnson, Gillian C. Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A. Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J. Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula HB Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E. Daly, Steve P. Watson, Neil V. Morgan
Publikováno v:
Haematologica, Vol 101, Iss 10 (2016)
Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the conf
Externí odkaz:
https://doaj.org/article/832905450f7e4e20b9fb9ac64c324ba8
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
Autor:
Joanne Lacey, Simon J. Webster, Paul R. Heath, Chris J. Hill, Lucinda Nicholson-Goult, Bart E. Wagner, Abdullah O. Khan, Neil V. Morgan, Michael Makris, Martina E. Daly
Publikováno v:
Haematologica. 107(8)
Germline defects affecting the DNA-binding domain of the transcription factor FLI1 are associated with a bleeding disorder that is characterized by the presence of large, fused α-granules in platelets. We investigated whether the genes showing abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffc6053238860ec83519d294704f92e
https://pubmed.ncbi.nlm.nih.gov/35021601
https://pubmed.ncbi.nlm.nih.gov/35021601
Autor:
Martina E. Daly
Publikováno v:
Haematologica, Vol 96, Iss 1 (2011)
Externí odkaz:
https://doaj.org/article/c752e18770294df2bff793de4e1444d4
Autor:
Shrimati Shetty, L. Mukherjee, Daniel J. Hampshire, S. Ali, Martina E. Daly, Maitreyee Bhattacharya, M. Ghosh, Kanjaksha Ghosh, Michael Makris
Publikováno v:
Haemophilia. 22:570-582
Introduction: Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterised by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69bb88781ffd6043a2255279d28a439
https://doi.org/10.1111/hae.12917
https://doi.org/10.1111/hae.12917
Autor:
Timothy D. Warner, José Rivera, Martina E. Daly, Steve P. Watson, Paul Harrison, Andrew M. Paterson, Gillian C. Lowe, Neil V. Morgan
Publikováno v:
Platelets. 27:719-721
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abe88d095e0a2f76e4812e8484d842eb
https://doi.org/10.1080/09537104.2016.1256726
https://doi.org/10.1080/09537104.2016.1256726
Autor:
Steve P. Watson, Stuart J. Mundell, Shaista P. Nisar, Steve Austin, Kathryn Garner, Jacqueline Stockley, Michael J. Mitchell, Martina E. Daly, Yatin Patel, Gillian C. Lowe, Marie Lordkipanidzé
Publikováno v:
Journal of Thrombosis and Haemostasis. 12:716-725
Summary Background The study of patients with bleeding problems is a powerful approach in determining the function and regulation of important proteins in human platelets. We have identified a patient with a chronic bleeding disorder expressing a hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6486a4d21d3acb3fcbe9bb162bb2b395
https://doi.org/10.1111/jth.12539
https://doi.org/10.1111/jth.12539
Publikováno v:
British Journal of Haematology. 165:193-203
Inherited platelet function disorders (PFDs), associated with normal or reduced platelet counts, account for a significant proportion of bleeding diatheses. Identification of the underlying genetic defects is difficult in the majority of cases due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122c1140904dd952e9f400f171554b46
https://doi.org/10.1111/bjh.12751
https://doi.org/10.1111/bjh.12751