Genetic testing in bleeding disorders

Autores
de Brasi, Carlos Daniel; El Maarri, O.; Perry, D. J.; Oldenburg, J.; Pezeshkpoor, B.; Goodeve, A.
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.
Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: El Maarri, O.. Universitat Bonn; Alemania
Fil: Perry, D. J.. Universitat Bonn; Alemania
Fil: Oldenburg, J.. Universitat Bonn; Alemania
Fil: Pezeshkpoor, B.. Universitat Bonn; Alemania
Fil: Goodeve, A.. Sheffield Children’s NHS Foundation Trust; Reino Unido. Sheffield University Medical School; Reino Unido
Materia
EXTERNAL QUALITY ASSESSMENT
GENETIC ANALYSIS
HAEMOPHILIA A
HAEMOPHILIA B
INTRACHROMOSOMAL INVERSION
MISSING MUTATIONS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/84986
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Genetic testing in bleeding disordersde Brasi, Carlos DanielEl Maarri, O.Perry, D. J.Oldenburg, J.Pezeshkpoor, B.Goodeve, A.EXTERNAL QUALITY ASSESSMENTGENETIC ANALYSISHAEMOPHILIA AHAEMOPHILIA BINTRACHROMOSOMAL INVERSIONMISSING MUTATIONShttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: El Maarri, O.. Universitat Bonn; AlemaniaFil: Perry, D. J.. Universitat Bonn; AlemaniaFil: Oldenburg, J.. Universitat Bonn; AlemaniaFil: Pezeshkpoor, B.. Universitat Bonn; AlemaniaFil: Goodeve, A.. Sheffield Children’s NHS Foundation Trust; Reino Unido. Sheffield University Medical School; Reino UnidoWiley Blackwell Publishing, Inc2014-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/84986de Brasi, Carlos Daniel; El Maarri, O.; Perry, D. J.; Oldenburg, J.; Pezeshkpoor, B.; et al.; Genetic testing in bleeding disorders; Wiley Blackwell Publishing, Inc; Haemophilia The Official Journal Of The World Federation Of Hemophilia; 20; S4; 5-2014; 54-581351-8216CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/hae.12409info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1111/hae.12409info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274362/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:07:26Zoai:ri.conicet.gov.ar:11336/84986instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:07:27.16CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genetic testing in bleeding disorders
title Genetic testing in bleeding disorders
spellingShingle Genetic testing in bleeding disorders
de Brasi, Carlos Daniel
EXTERNAL QUALITY ASSESSMENT
GENETIC ANALYSIS
HAEMOPHILIA A
HAEMOPHILIA B
INTRACHROMOSOMAL INVERSION
MISSING MUTATIONS
title_short Genetic testing in bleeding disorders
title_full Genetic testing in bleeding disorders
title_fullStr Genetic testing in bleeding disorders
title_full_unstemmed Genetic testing in bleeding disorders
title_sort Genetic testing in bleeding disorders
dc.creator.none.fl_str_mv de Brasi, Carlos Daniel
El Maarri, O.
Perry, D. J.
Oldenburg, J.
Pezeshkpoor, B.
Goodeve, A.
author de Brasi, Carlos Daniel
author_facet de Brasi, Carlos Daniel
El Maarri, O.
Perry, D. J.
Oldenburg, J.
Pezeshkpoor, B.
Goodeve, A.
author_role author
author2 El Maarri, O.
Perry, D. J.
Oldenburg, J.
Pezeshkpoor, B.
Goodeve, A.
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv EXTERNAL QUALITY ASSESSMENT
GENETIC ANALYSIS
HAEMOPHILIA A
HAEMOPHILIA B
INTRACHROMOSOMAL INVERSION
MISSING MUTATIONS
topic EXTERNAL QUALITY ASSESSMENT
GENETIC ANALYSIS
HAEMOPHILIA A
HAEMOPHILIA B
INTRACHROMOSOMAL INVERSION
MISSING MUTATIONS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.
Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: El Maarri, O.. Universitat Bonn; Alemania
Fil: Perry, D. J.. Universitat Bonn; Alemania
Fil: Oldenburg, J.. Universitat Bonn; Alemania
Fil: Pezeshkpoor, B.. Universitat Bonn; Alemania
Fil: Goodeve, A.. Sheffield Children’s NHS Foundation Trust; Reino Unido. Sheffield University Medical School; Reino Unido
description The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.
publishDate 2014
dc.date.none.fl_str_mv 2014-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/84986
de Brasi, Carlos Daniel; El Maarri, O.; Perry, D. J.; Oldenburg, J.; Pezeshkpoor, B.; et al.; Genetic testing in bleeding disorders; Wiley Blackwell Publishing, Inc; Haemophilia The Official Journal Of The World Federation Of Hemophilia; 20; S4; 5-2014; 54-58
1351-8216
CONICET Digital
CONICET
url http://hdl.handle.net/11336/84986
identifier_str_mv de Brasi, Carlos Daniel; El Maarri, O.; Perry, D. J.; Oldenburg, J.; Pezeshkpoor, B.; et al.; Genetic testing in bleeding disorders; Wiley Blackwell Publishing, Inc; Haemophilia The Official Journal Of The World Federation Of Hemophilia; 20; S4; 5-2014; 54-58
1351-8216
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1111/hae.12409
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1111/hae.12409
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274362/
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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