Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept

Autor: María Sol Ruiz, María Sol Anchordoqui, Leandro German Gutierrez, Miguel Martin Abelleyro, Josefina Freitas, Irene Larripa, Michele Bianchini, Carlos Daniel de Brasi

Publikováno v: Clinical Chemistry and Laboratory Medicine (CCLM). 59:e449-e453

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a3859b0b30cb598f6d87f5548989998
https://doi.org/10.1515/cclm-2020-1482

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Autor: Claudia Pamela Radic, Miguel Martin Abelleyro, Vanina Daniela Marchione, Tomás Tetzlaff, Karen Waisman, D. Neme, Liliana Carmen Rossetti, Carlos Daniel de Brasi

Publikováno v: Human mutationREFERENCES. 41(4)

Hemophilia A (HA) provides excellent models to analyze genotype-phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case-specific DNA-tags, direct- or inverse-polymerase chain reaction amplification, and S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666ff699caf3c3d95468b4391673b4df
https://pubmed.ncbi.nlm.nih.gov/31898853

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications

Autor: Maria de Los Angeles Curto, Claudia Pamela Radic, Liliana Carmen Rossetti, Miguel Martin Abelleyro, Carlos Daniel de Brasi, Vanina Daniela Marchione

Publikováno v: Thrombosis and Haemostasis. 115:678-681

F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7788c6596259a5ea0906de3cc7c347bb
https://doi.org/10.1160/th15-08-0643

Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

Autor: Miguel Martin Abelleyro, Irene Larripa, Liliana Carmen Rossetti, Carlos Daniel de Brasi, Claudia Pamela Radic

Publikováno v: International Journal of Molecular Sciences, Vol 12, Iss 10, Pp 7271-7285 (2011)
International Journal of Molecular Sciences
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685814c926cb9c38ba803b25c9fe336a
https://doi.org/10.3390/ijms12107271

Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks

Autor: I. Szurkalo, L. C. Rossetti, Miguel Martin Abelleyro, Raúl Pérez Bianco, L. Primiani, C. P. Radic, M. de Tezanos Pinto, D. Neme, M. Candela, I. B. Larripa, C. D. De Brasi

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 19(4)

Inhibitor development against exogenous factor VIII is a severe impairment of replacement therapy affecting 18% of Argentine patients with severe haemophilia A (HA). To study the molecular predisposition for inhibitor development, we genotyped 260 HA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3daf13ecd950a5567d813fb2e38aa1
https://pubmed.ncbi.nlm.nih.gov/23534532