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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/97876
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T10:20:16Zoai: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:34982025-09-29 10:20:16.968CONICET 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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1844614181848875008 |
score |
13.070432 |