نتائج البحث - "Bariana, TK"

1

Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes

المؤلفون: Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, Yu, P

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::19a3e811e3610b4cd93bf0053fb75216
https://doi.org/10.1016/j.ajhg.2018.04.013

2

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

المؤلفون: Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, In't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y

المساهمون: Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository, Medical Research Council (MRC), British Heart Foundation

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-4 (2018)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5230f288ebf5e191ecb7d4394383e166
https://www.repository.cam.ac.uk/handle/1810/291466

Find this article in full text from ProQuest

3

دورية أكاديمية

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

المؤلفون: Sims MC; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom., Mayer L; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Collins JH; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Bariana TK; Department of Haematology, University of Cambridge, and.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom.; Royal Free London NHS Foundation Trust, London, United Kingdom., Megy K; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Lavenu-Bombled C; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Seyres D; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Kollipara L; Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany., Burden FS; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greene D; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Lee D; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Rodriguez-Romera A; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Alessi MC; Centre for CardioVascular and Nutrition Research, INSERM 1263, INRAE 1260, Marseille, France., Astle WJ; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bahou WF; Department of Medicine, Stony Brook University, Stony Brook, NY., Bury L; Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Chalmers E; Royal Hospital for Sick Children, Glasgow, United Kingdom., Da Silva R; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., De Candia E; Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy.; Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Deevi SVV; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Farrow S; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gomez K; Royal Free London NHS Foundation Trust, London, United Kingdom., Grassi L; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greinacher A; Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany., Gresele P; Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Hart D; The Royal London Hospital Haemophilia Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Hurtaud MF; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Kelly AM; Department of Haematology, University of Cambridge, and., Kerr R; Department of Haematology, Ninewells Hospital and Medical School, Dundee, United Kingdom., Le Quellec S; Service d'Hématologie Biologique, Hospices Civils de Lyon, Lyon, France., Leblanc T; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Leinøe EB; Department of Haematology, Rigshospitalet, Copenhagen, Denmark., Mapeta R; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., McKinney H; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Michelson AD; Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA., Morais S; Serviço de Hematologia Clínica, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto, Porto, Portugal., Nugent D; Center for Inherited Bleeding Disorders, Children's Hospital of Orange County, Orange, CA., Papadia S; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Park SJ; Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA., Pasi J; The Royal London Hospital Haemophilia Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Podda GM; Unità di Medicina 2, ASST Santi Paolo e Carlo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy., Poon MC; University of Calgary Cumming School of Medicine and Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Calgary, AB, Canada., Reed R; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Sekhar M; Department of Haematology, Royal Free London NHS Trust, London, United Kingdom., Shalev H; Department of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel., Sivapalaratnam S; Department of Haematology, University of Cambridge, and.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Steinberg-Shemer O; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Stephens JC; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Tait RC; Department of Haematology, Royal Infirmary, Glasgow, United Kingdom., Turro E; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Wu JKM; Division of Hematology-Oncology, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Zieger B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Sanquin Research Institute, Department of Blood Cell Research, University of Amsterdam, Amsterdam, The Netherlands., Whetton AD; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Sickmann A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany.; Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, United Kingdom.; Medizinische Fakultät, Medizinisches Proteom Center, Ruhr-Universität Bochum, Bochum, Germany., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Downes K; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Erber WN; Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Australia.; PathWest Laboratory Medicine, The University of Western Australia, Nedlands, Australia., Frontini M; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Nurden P; Institut Hospitalo-Universitaire L'Institut de Rythmologie et Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France., Ouwehand WH; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and., Favier R; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France.; INSERM Unité Mixte de Recherche 1170, Gustave Roussy Cancer Campus, Universite Paris-Saclay, Villejuif, France., Guerrero JA; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.

مؤلفون مشاركون: NIHR BioResource

المصدر: Blood [Blood] 2020 Oct 22; Vol. 136 (17), pp. 1956-1967.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

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دورية أكاديمية

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

المؤلفون: Bury L; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Stephens JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Grassi L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Althaus K; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany.; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Allsup D; Hull York Medical School, University of Hull, York, UK., Bariana TK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK., Bonduel M; Hematology/Oncology Department, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan', Buenos Aires, Argentina., Butta NV; Servicio de Hematología y Hemoterapia Hospital, Universitario La Paz-IDIPaz, Madrid, Spain., Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, UK., Curry N; Department of Clinical Haematology, Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK., Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Duarte D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Elliott K; Oxford Haemophilia & Thrombosis Centre, Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford and the NIHR BRC, Blood Theme, Oxford Centre for Haematology, Oxford, UK., Falcinelli E; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Furie B; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts., Keeling D; Churchill Hospital, Oxford University Hospitals, UK., Lambert MP; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Linger R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Mangles S; Basingstoke and Hampshire Hospital, NHS Foundation Trust, UK., Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Millar CM; Hampshire Hospital NHS Foundation Trust, UK.; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, UK., Penkett C; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Stirrups KE; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge Institute of Public Health, Cambridge, UK., Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Wu J; British Columbia Children's Hospital, Vancouver, Canada., BioResource N; NIHR BioResource, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Gomez K; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Cambridge, UK., Gresele P; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.

المصدر: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 277-290. Date of Electronic Publication: 2019 Oct 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Genetic Variation* , High-Throughput Nucleotide Sequencing*/methods, Myosin Heavy Chains/*genetics, Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Chromosome Mapping ; Evolution, Molecular ; Female ; Fluorescent Antibody Technique ; Gene Expression ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Myosin Heavy Chains/metabolism ; Phenotype ; Young Adult

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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

المؤلفون: Bariana TK; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Labarque V; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Heremans J; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Thys C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., De Reys M; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Jenkins B; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK., Grassi L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Seyres D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Burden F; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Whitehorn D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Shamardina O; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Papadia S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Gomez K; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., BioResource N; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Van Geet C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Koulman A; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Ghevaert C; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Freson K; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK kathleen.freson@med.kuleuven.be.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

المصدر: Haematologica [Haematologica] 2019 May; Vol. 104 (5), pp. 1036-1045. Date of Electronic Publication: 2018 Nov 22.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

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Nbeal2 interacts with Dock7, Sec16a, and Vac14.

المؤلفون: Mayer L; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Jasztal M; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Pardo M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Aguera de Haro S; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Collins J; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom., Bariana TK; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom.; Department of Haematology, University College London Cancer Institute, London, United Kingdom., Smethurst PA; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Grassi L; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Petersen R; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Nurden P; Institut Hospitalo-Universitaire L'Institut de Rythmologie et Modelisation Cardiaque, Hopital Xavier Arnozan, Pessac, France., Favier R; Département d'Hématologie, Assistance-Publique Hôpitaux de Paris, Centre de Référence des Pathologies Plaquettaires, Hôpital Armand Trousseau, Paris, France.; INSERM, Villejuif, France., Yu L; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Meacham S; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Astle WJ; Cardiovascular Epidemiology Unit of the Medical Research Council/British Heart Foundation, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; and., Choudhary J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Yue WW; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, United Kingdom., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Guerrero JA; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.

المصدر: Blood [Blood] 2018 Mar 01; Vol. 131 (9), pp. 1000-1011. Date of Electronic Publication: 2017 Nov 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

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دورية أكاديمية

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.

المؤلفون: Bariana TK; Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.; Department of Haematology, University College London Cancer Institute, London, UK.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Guerrero JA; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Gomez K; Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.

مؤلفون مشاركون: BRIDGE Bleeding, Thrombotic and Platelet Disorders and ThromboGenomics Consortia

المصدر: British journal of haematology [Br J Haematol] 2017 Mar; Vol. 176 (5), pp. 705-720. Date of Electronic Publication: 2016 Dec 16.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Genomics*, Blood Platelet Disorders/*diagnosis , Blood Platelet Disorders/*genetics, Blood Platelet Disorders/therapy ; Blood Platelets/pathology ; Blood Platelets/ultrastructure ; Cytoplasmic Vesicles/pathology ; Cytoplasmic Vesicles/ultrastructure ; Humans

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

المؤلفون: Simeoni I; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Stephens JC; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Hu F; Department of Haematology, University of Cambridge, Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;, Deevi SV; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Megy K; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Bariana TK; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Schulman S; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;, Sivapalaratnam S; Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;, Vries MJ; Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;, Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;, Greene D; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Papadia S; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Alessi MC; Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;, Attwood AP; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Ballmaier M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;, Baynam G; School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia; Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia; Office of Population Health Genomics, WA Department of Health, East Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia; Telethon Kids Institute, Subiaco, Australia;, Bermejo E; Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;, Bertoli M; San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;, Bray PF; Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;, Bury L; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;, Cattaneo M; Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;, Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;, Daugherty LC; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Favier R; Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;, French DL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA;, Furie B; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;, Gattens M; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Germeshausen M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;, Ghevaert C; Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Goodeve AC; Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;, Guerrero JA; Department of Haematology, University of Cambridge., Hampshire DJ; Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;, Hart DP; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;, Heemskerk JW; Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;, Henskens YM; Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;, Hill M; Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;, Hogg N; Cancer Research UK London Research Institute, London, United Kingdom;, Jolley JD; Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;, Kahr WH; Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;, Kelly AM; Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;, Kerr R; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, Kostadima M; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Kunishima S; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;, Lambert MP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;, Liesner R; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, López JA; Puget Sound Blood Center, Research Institute, Seattle, WA;, Mapeta RP; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Mathias M; Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;, Millar CM; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Nathwani A; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Neerman-Arbez M; Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;, Nurden AT; Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;, Nurden P; Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;, Othman M; Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;, Peerlinck K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;, Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Poudel P; Institute of Cancer Research, London, United Kingdom;, Reitsma P; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;, Rondina MT; University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;, Smethurst PA; Department of Haematology, University of Cambridge, Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;, Stevenson W; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia; Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;, Szkotak A; Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;, Tuna S; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., van Geet C; Institute of Cancer Research, London, United Kingdom;, Whitehorn D; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Wilcox DA; Children's Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;, Zhang B; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;, Revel-Vilk S; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;, Gresele P; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;, Bellissimo DB; Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;, Penkett CJ; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and., Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;, Rendon A; Department of Haematology, University of Cambridge, Genomics England Limited, London, United Kingdom; and., Gomez K; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;, Freson K; Institute of Cancer Research, London, United Kingdom;, Ouwehand WH; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom., Turro E; Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

المصدر: Blood [Blood] 2016 Jun 09; Vol. 127 (23), pp. 2791-803. Date of Electronic Publication: 2016 Apr 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

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دورية أكاديمية

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

المؤلفون: Stritt S; Department of Experimental Biomedicine, University Hospital, Rudolf Virchow Center, University of Würzburg, Würzburg, Germany;, Nurden P; Institut Hospitalo-Universitaire L'Institut de RYthmologie et modélisation Cardiaque, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France; French Reference Center on Inherited Platelet Disorders, Centre Hospitalier Universitaire Timone, Marseille, France;, Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Jansen SB; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Westbury SK; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;, Petersen R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Astle WJ; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Marlin S; Centre de Référence des Surdités Génétiques, Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France;, Bariana TK; Department of Haematology, University College London Cancer Institute, London, United Kingdom; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;, Kostadima M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom; Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Maiwald S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Papadia S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Kelly AM; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Stephens JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Penkett CJ; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Ashford S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Tuna S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Austin S; Department of Haematology, Guy's and St Thomas' National Health Service Foundation Trust, London, United Kingdom;, Bakchoul T; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald, Greifswald, Germany;, Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;, Favier R; Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, France; INSERM U1170, Villejuif, France;, Lambert MP; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;, Mathias M; Department of Haematology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom;, Millar CM; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom; Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Schulman S; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA;, Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;, Gomez K; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;, Erber WN; Pathology and Laboratory Medicine, University of Western Australia, Crawley, WA, Australia;, Stirrups K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Rendon A; Genomics England Ltd, London, United Kingdom;, Bradley JR; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Research & Development, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, United Kingdom;, van Geet C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;, Raymond FL; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom;, Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom; Imperial College Healthcare National Health Service Trust, London, United Kingdom;, Nurden AT; Institut Hospitalo-Universitaire L'Institut de RYthmologie et modélisation Cardiaque, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France; French Reference Center on Inherited Platelet Disorders, Centre Hospitalier Universitaire Timone, Marseille, France;, Nieswandt B; Department of Experimental Biomedicine, University Hospital, Rudolf Virchow Center, University of Würzburg, Würzburg, Germany;, Richardson S; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;, Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;, Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom; Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom; and., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.

مؤلفون مشاركون: BRIDGE-BPD Consortium

المصدر: Blood [Blood] 2016 Jun 09; Vol. 127 (23), pp. 2903-14. Date of Electronic Publication: 2016 Feb 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Adaptor Proteins, Signal Transducing/*genetics , Hearing Loss/*genetics , Thrombocytopenia/*genetics, A549 Cells ; Adolescent ; Adult ; Aged ; Case-Control Studies ; Cells, Cultured ; Child ; Female ; Formins ; Genetic Association Studies ; Genetic Predisposition to Disease ; HEK293 Cells ; Hearing Loss/complications ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Syndrome ; Thrombocytopenia/complications ; Young Adult

10

دورية أكاديمية

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

المؤلفون: Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Wijgaerts A; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium., Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London W12 0HS, UK. Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK., Bariana TK; Department of Haematology, University College London Cancer Institute, London WC1E 6BT, UK. Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London NW3 2QG, UK., Westbury SK; School of Clinical Sciences, University of Bristol, Bristol BS2 8DZ, UK., Kelly AM; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Selleslag D; Academisch Ziekenhuis Sint-Jan Brugge-Oostende, 8000 Brugge, Belgium., Stephens JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Papadia S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Penkett CJ; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Ashford S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Attwood A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Austin S; Department of Haematology, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, UK., Bakchoul T; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald, 17475 Greifswald, Germany., Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Deevi SV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Favier R; Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, 75012 Paris, France. INSERM U1170, 94805 Villejuif, France., Kostadima M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Lambert MP; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Mathias M; Department of Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Millar CM; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London W12 0HS, UK. Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK., Peerlinck K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium., Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., Schulman S; Beth Israel Deaconess Medical Centre, Harvard Medical School, Boston, MA 02215, USA., Whitehorn D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Wittevrongel C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium., De Maeyer M; Biochemistry, Molecular and Structural Biology Section, University of Leuven, 3001 Leuven, Belgium., Rendon A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Genomics England Ltd., London EC1M 6BQ, UK., Gomez K; Department of Haematology, University College London Cancer Institute, London WC1E 6BT, UK. Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London NW3 2QG, UK., Erber WN; Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia WA 6009, Australia., Mumford AD; School of Clinical Sciences, University of Bristol, Bristol BS2 8DZ, UK. School of Cellular and Molecular Medicine, University of Bristol, Bristol BS8 1TD, UK., Nurden P; Institut Hospitalo-Universitaire LIRYC, PTIB, Hôpital Xavier Arnozan, 33600 Pessac, France., Stirrups K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Bradley JR; National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Research and Development, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Raymond FL; National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK., Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London W12 0HS, UK. Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK., Van Geet C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium., Richardson S; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium. kathleen.freson@med.kuleuven.be., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

مؤلفون مشاركون: BRIDGE-BPD Consortium

المصدر: Science translational medicine [Sci Transl Med] 2016 Mar 02; Vol. 8 (328), pp. 328ra30. Date of Electronic Publication: 2016 Mar 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Bone and Bones/*pathology , Hemorrhage/*genetics , Mutation/*genetics , Primary Myelofibrosis/*genetics , Thrombocytopenia/*genetics , src-Family Kinases/*genetics, Animals ; Blood Platelets/pathology ; COS Cells ; Chlorocebus aethiops ; Female ; Hematopoiesis ; Hemorrhage/complications ; Humans ; Male ; Pedigree ; Phenotype ; Primary Myelofibrosis/complications ; Thrombocytopenia/complications ; Transfection ; Zebrafish

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