Zobrazeno 1 - 10
of 121
pro vyhledávání: '"D J, PERRY"'
Autor:
Guy Young, D. J. Perry
Publikováno v:
Journal of Thrombosis and Haemostasis. 17:567-573
Over the past several years, novel modified clotting factor concentrates (CFCs) have been introduced into practice and are now widely prescribed in the countries where they are licensed. These products allow for less frequent infusions of CFC, thereb
Autor:
John Pasi, Desmond Creagh, D. J. Perry, Ruth Pink, Gregory M. Hayes, Amanda Clark, Sylvia Fong, Sophia Stanford, Gillian C. Lowe, Savita Rangarajan, Kandiah Chandrakumaran, Nicola Curry
Publikováno v:
Research and Practice in Thrombosis and Haemostasis
Background Current treatment for severe hemophilia A is replacement of deficient factor. Although replacement therapy has improved life expectancy and quality, limitations include frequent infusions and high costs. Gene therapy is a potential alterna
Autor:
Daniel Duarte, Mariana Bonduel, Sri V V Deevi, Kathleen Stirrups, Paolo Gresele, David Allsup, Rutendo Mapeta, Jonathan Stephens, Tadbir K. Bariana, Kathleen Freson, Nihr BioResource, Ernest Turro, Kim Elliott, Nicola Curry, David Keeling, D. J. Perry, Kate Downes, Carolyn M. Millar, Luigi Grassi, Keith Gomez, Nora Butta, Ilenia Simeoni, Emanuela Falcinelli, Peter William Collins, Michele P. Lambert, Christopher J. Penkett, Loredana Bury, John K. Wu, Nick Gleadall, Karina Althaus, Daniel Greene, Bruce Furie, Willem H. Ouwehand, Rachel Linger, Sarah K Westbury, Karyn Megy, Sarah Mangles
Publikováno v:
Human Mutation
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927
The heterogeneous manifestations of MYH9‐related disorder (MYH9‐RD), characterized by macrothrombocytopenia, Döhle‐like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b150ff99d83e6e6627c2e3b46c3ed5c
https://lirias.kuleuven.be/handle/123456789/641720
https://lirias.kuleuven.be/handle/123456789/641720
Autor:
Alejandra Ramirez-Santiago, K. J. Pasi, Roshni Kulkarni, Johannes Oldenburg, D. J. Perry, Baisong Mei, Margaret V. Ragni, Tadashi Matsushita, Amy D. Shapiro, Carolyn M. Bennett, Krista Fischer, Beatrice Nolan, Chris Barnes, Johnny Mahlangu, Huixing Yuan, Glenn F. Pierce, Margareth C. Ozelo, Ross I. Baker, G. Allen
Publikováno v:
Thrombosis and Haemostasis. 117:508-518
SummaryThe safety, efficacy, and prolonged half-life of recombinant factor IX Fc fusion protein (rFIXFc) were demonstrated in the Phase 3 B-LONG (adults/adolescents ≥12 years) and Kids B-LONG (children Supplementary Material to this article is avai
Autor:
K. J. Pasi, Johnny Mahlangu, Barbara A. Konkle, Simon A Brown, H. Hanabusa, X Li, Savita Rangarajan, G. Allen, Ingrid Pabinger, Lynda M. Cristiano, Beatrice Nolan, D. J. Perry, R. Liesner, Glenn F. Pierce, Guy Young, Shannon Jackson
Publikováno v:
Haemophilia. 22:72-80
Introduction The safety, efficacy and prolonged half-life of recombinant factor VIII Fc fusion protein (rFVIIIFc) in previously treated patients with severe haemophilia A was demonstrated in the phase 3 A-LONG and Kids A-LONG studies. Here, we report
Autor:
Steven Kitchen, D. J. Perry, Ian Jennings, Marian Hill, Tony Cumming, Isobel D. Walker, Anne Goodeve
Publikováno v:
Seminars in Thrombosis and Hemostasis. 40:261-268
Molecular genetic analysis of families with hemophilia and other heritable bleeding disorders is a frequently requested laboratory investigation. In the United Kingdom, laboratories undertaking genetic testing must participate in a recognized externa
Autor:
Shuanglian Li, Johnny Mahlangu, Pratima Chowdary, Amy D. Shapiro, D. J. Perry, G. Allen, Doris Quon, Glenn F. Pierce, Elisa Tsao, Alison Innes, John Pasi
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 23(3)
Introduction The Phase 3 A-LONG study demonstrated the safety and efficacy of rFVIIIFc for the control and prevention of bleeding episodes in severe haemophilia A. Aim To describe the treatment of bleeding episodes with rFVIIIFc in the A-LONG study.
Autor:
Claire Lentaigne, Deborah Whitehorn, Tamam Bakchoul, Tadbir K. Bariana, John Bradley, Anne M. Kelly, Anouck Wijgaerts, Jonathan Stephens, Rémi Favier, Chantal Thys, Marc De Maeyer, Augusto Rendon, Sri V V Deevi, Kathelijne Peerlinck, F. Lucy Raymond, Michele P. Lambert, Kathleen Freson, Michael Laffan, D. J. Perry, Sylvia Richardson, Myrto Kostadima, Andrew D Mumford, Kathleen Stirrups, Christopher J. Penkett, Ernest Turro, Sol Schulman, Ilenia Simeoni, Wendy N. Erber, Willem H. Ouwehand, Keith Gomez, Mary Mathias, Paquita Nurden, Sofia Papadia, Chris Van Geet, Steve Austin, Sarah K Westbury, Daniel Greene, Sofie Ashford, Dominik Selleslag, Christine Wittevrongel, Peter William Collins, Carolyn M. Millar, Antony P. Attwood
Publikováno v:
Science Translational Medicine, 8(328):328ra30. American Association for the Advancement of Science
Turro, E, Greene, D, Wijgaerts, A, Thys, C, Lentaigne, C, Bariana, T K, Westbury, S K, Kelly, A M, Selleslag, D, Stephens, J C, Papadia, S, Simeoni, I, Penkett, C J, Ashford, S, Attwood, A, Austin, S, Bakchoul, T, Collins, P, Deevi, S V V, Favier, R, Kostadima, M, Lambert, M P, Mathias, M, Millar, C M, Peerlinck, K, Perry, D J, Schulman, S, Whitehorn, D, Wittevrongel, C, De Maeyer, M, Rendon, A, Gomez, K, Erber, W N, Mumford, A D, Nurden, P, Stirrups, K, Bradley, J R, Lucy Raymond, F, Laffan, M A, Van Geet, C, Richardson, S & Freson, K & Ouwehand, W H 2016, ' A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies ', Science Translational Medicine, vol. 8, no. 328, 328ra30 . https://doi.org/10.1126/scitranslmed.aad7666
Turro, E, Greene, D, Wijgaerts, A, Thys, C, Lentaigne, C, Bariana, T K, Westbury, S K, Kelly, A M, Selleslag, D, Stephens, J C, Papadia, S, Simeoni, I, Penkett, C J, Ashford, S, Attwood, A, Austin, S, Bakchoul, T, Collins, P, Deevi, S V V, Favier, R, Kostadima, M, Lambert, M P, Mathias, M, Millar, C M, Peerlinck, K, Perry, D J, Schulman, S, Whitehorn, D, Wittevrongel, C, De Maeyer, M, Rendon, A, Gomez, K, Erber, W N, Mumford, A D, Nurden, P, Stirrups, K, Bradley, J R, Lucy Raymond, F, Laffan, M A, Van Geet, C, Richardson, S & Freson, K & Ouwehand, W H 2016, ' A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies ', Science Translational Medicine, vol. 8, no. 328, 328ra30 . https://doi.org/10.1126/scitranslmed.aad7666
The Src family kinase (SFK) member SRC is a major target in drug development because it is activated in many human cancers, yet deleterious SRC germline mutations have not been reported. We used genome sequencing and Human Phenotype Ontology patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3abf3e713632f2d4f4b79dd740d7ce90
https://cris.maastrichtuniversity.nl/en/publications/798e4ad0-d6bf-4108-acbd-b347381a5789
https://cris.maastrichtuniversity.nl/en/publications/798e4ad0-d6bf-4108-acbd-b347381a5789
Autor:
D. J. Perry, Mary Mathias, David Keeling, Michael Laffan, Ri Liesner, Peter William Collins, J. Hanley, Russell Keenan
Publikováno v:
Journal of Thrombosis and Haemostasis. 7:787-794
Background and objectives: The management of patients with severe hemophilia A and inhibitors to factor VIII (FVIII) resistant to standard immune tolerance is challenging. There have been recent case reports of the successful use of rituximab in up t
Publikováno v:
British Dental Journal. 203:389-393
The objective of these guidelines is to provide healthcare professionals, including primary care dental practitioners, with clear guidance on the management of patients on oral anticoagulants requiring dental surgery. The guidance may not be appropri