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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M.
Afiliação
  • 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 o
  • 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;
Blood ; 127(23): 2791-803, 2016 06 09.
Article em En | MEDLINE | ID: mdl-27084890
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombose / Transtornos Plaquetários / Predisposição Genética para Doença / Sequenciamento de Nucleotídeos em Larga Escala / Hemorragia Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombose / Transtornos Plaquetários / Predisposição Genética para Doença / Sequenciamento de Nucleotídeos em Larga Escala / Hemorragia Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos