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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida, José M; Lozano, María L; Benito, Rocío; Janusz, Kamila; Palma-Barqueros, Verónica; Del Rey, Mónica; Hernández-Sánchez, Jesús M; Riesco, Susana; Bermejo, Nuria; González-García, Hermenegildo; Rodriguez-Alén, Agustín; Aguilar, Carlos; Sevivas, Teresa; López-Fernández, María F; Marneth, Anna E; van der Reijden, Bert A; Morgan, Neil V; Watson, Steve P; Vicente, Vicente; Hernández-Rivas, Jesús M; Rivera, José; González-Porras, José R.
Affiliation
  • Bastida JM; Servicio de Hematología, Hospital Universitario de Salamanca-IBSAL-USAL, Spain jmbastida@saludcastillayleon.es jose.rivera@carm.es.
  • Lozano ML; On behalf of the Project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" of the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis.
  • Benito R; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CB15/00055-CIBERER, Spain.
  • Janusz K; On behalf of the Project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" of the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis.
  • Palma-Barqueros V; IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
  • Del Rey M; IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
  • Hernández-Sánchez JM; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CB15/00055-CIBERER, Spain.
  • Riesco S; IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
  • Bermejo N; IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
  • González-García H; Servicio de Pediatría, Hospital Universitario de Salamanca-IBSAL, Spain.
  • Rodriguez-Alén A; Servicio de Hematología, Complejo Hospitalario San Pedro Alcántara, Cáceres, Spain.
  • Aguilar C; Servicio de Pediatría, Hospital Clínico Universitario de Valladolid, Spain.
  • Sevivas T; Servicio de Hematología y Hemoterapia, Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, Spain.
  • López-Fernández MF; Servicio de Hematología, Complejo Asistencial de Soria, Spain.
  • Marneth AE; Serviço de Imunohemoterapia, Sangue e Medicina Transfusional do Centro Hospitalar e Universitário de Coimbra, EPE, Portugal.
  • van der Reijden BA; Servicio Hematología y Hemoterapia, Complejo Hospitalario Universitario A Coruña, Spain.
  • Morgan NV; Department of Laboratory Medicine, Laboratory of Hematology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Watson SP; Department of Laboratory Medicine, Laboratory of Hematology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Vicente V; Birmingham Platelet Group, Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, UK.
  • Hernández-Rivas JM; Birmingham Platelet Group, Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, UK.
  • Rivera J; On behalf of the Project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" of the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis.
  • González-Porras JR; Servicio de Hematología, Hospital Universitario de Salamanca-IBSAL-USAL, Spain.
Haematologica ; 103(1): 148-162, 2018 01.
Article in En | MEDLINE | ID: mdl-28983057
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Platelet Disorders / Genetic Testing / High-Throughput Nucleotide Sequencing / Genetic Diseases, Inborn Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Haematologica Year: 2018 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Platelet Disorders / Genetic Testing / High-Throughput Nucleotide Sequencing / Genetic Diseases, Inborn Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Haematologica Year: 2018 Type: Article