Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples

Autores
Radic, Claudia Pamela; Rossetti, Liliana Carmen; Zuccoli, Johanna Romina; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel
Año de publicación
2009
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied a recently published approach, inverse shifting-PCR (IS-PCR). Prenatal diagnosis accomplished in two cases showed that IS-PCR is a robust and reliable tool to provide rapid information for genetic counseling for hemophilia-affected families.
Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Zuccoli, Johanna Romina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Materia
DNA INVERSIONS
HEMOPHILIA
IS-PCR
PRENATAL DIAGNOSIS
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:11336/97876
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samplesRadic, Claudia PamelaRossetti, Liliana CarmenZuccoli, Johanna RominaAbelleyro, Miguel MartinLarripa, Irene Beatrizde Brasi, Carlos DanielDNA INVERSIONSHEMOPHILIAIS-PCRPRENATAL DIAGNOSIShttps://purl.org/becyt/ford/3.5https://purl.org/becyt/ford/3Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied a recently published approach, inverse shifting-PCR (IS-PCR). Prenatal diagnosis accomplished in two cases showed that IS-PCR is a robust and reliable tool to provide rapid information for genetic counseling for hemophilia-affected families.Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Zuccoli, Johanna Romina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaJohn Wiley & Sons Ltd2009-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/97876Radic, Claudia Pamela; Rossetti, Liliana Carmen; Zuccoli, Johanna Romina; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; et al.; Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples; John Wiley & Sons Ltd; Prenatal Diagnosis; 29; 12; 12-2009; 1183-11850197-3851CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1002/pd.2393info:eu-repo/semantics/altIdentifier/doi/10.1002/pd.2393info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:17:23Zoai:ri.conicet.gov.ar:11336/97876instacron: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:34982025-10-15 15:17:24.184CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
title Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
spellingShingle Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
Radic, Claudia Pamela
DNA INVERSIONS
HEMOPHILIA
IS-PCR
PRENATAL DIAGNOSIS
title_short Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
title_full Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
title_fullStr Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
title_full_unstemmed Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
title_sort Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
dc.creator.none.fl_str_mv Radic, Claudia Pamela
Rossetti, Liliana Carmen
Zuccoli, Johanna Romina
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author Radic, Claudia Pamela
author_facet Radic, Claudia Pamela
Rossetti, Liliana Carmen
Zuccoli, Johanna Romina
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author_role author
author2 Rossetti, Liliana Carmen
Zuccoli, Johanna Romina
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv DNA INVERSIONS
HEMOPHILIA
IS-PCR
PRENATAL DIAGNOSIS
topic DNA INVERSIONS
HEMOPHILIA
IS-PCR
PRENATAL DIAGNOSIS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.5
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied a recently published approach, inverse shifting-PCR (IS-PCR). Prenatal diagnosis accomplished in two cases showed that IS-PCR is a robust and reliable tool to provide rapid information for genetic counseling for hemophilia-affected families.
Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Zuccoli, Johanna Romina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
description Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied a recently published approach, inverse shifting-PCR (IS-PCR). Prenatal diagnosis accomplished in two cases showed that IS-PCR is a robust and reliable tool to provide rapid information for genetic counseling for hemophilia-affected families.
publishDate 2009
dc.date.none.fl_str_mv 2009-12
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/11336/97876
Radic, Claudia Pamela; Rossetti, Liliana Carmen; Zuccoli, Johanna Romina; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; et al.; Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples; John Wiley & Sons Ltd; Prenatal Diagnosis; 29; 12; 12-2009; 1183-1185
0197-3851
CONICET Digital
CONICET
url http://hdl.handle.net/11336/97876
identifier_str_mv Radic, Claudia Pamela; Rossetti, Liliana Carmen; Zuccoli, Johanna Romina; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; et al.; Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples; John Wiley & Sons Ltd; Prenatal Diagnosis; 29; 12; 12-2009; 1183-1185
0197-3851
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1002/pd.2393
info:eu-repo/semantics/altIdentifier/doi/10.1002/pd.2393
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
application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons Ltd
publisher.none.fl_str_mv John Wiley & Sons Ltd
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 13.22299

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