Výsledky vyhledávání - "Vanina Daniela Marchione"

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

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A Differentially Methylated CpG Site in the IL4 Gene Associated with Anti-FVIII Inhibitor Antibody Development in Hemophilia A

Autor: T. Louvain de Souza, C. Figueiredo Osorio da Silva, Liliana Carmen Rossetti, C. D. De Brasi, T. Barbosa de Souza, Vanina Daniela Marchione, Enrique Medina-Acosta, C. dos Santos Ferreira

Hemophilia A is the most common clotting disorder in humans. It affects one in five thousand live-born children. Mutations in the X-chromosome linkedF8gene lead to the deficiency of circulating factor VIII (FVIII). The defect is characterized by seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09ddeab20ab5d4017b6a9c0068d5e61c

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Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

Autor: Vanina Daniela Marchione, Enrique Medina-Acosta, Miguel Martin Abelleyro, Micaela Palmitelli, Claudia Pamela Radic, Carlos Daniel de Brasi, Liliana Carmen Rossetti, Irene Larripa, D. Neme

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Among other applications of long-distance haplotype phasing in clinical genetics, determination of linked DNA markers as surrogate for problematic structural variants (e.g., repeat-mediated rearrangements) is essential to perform diagnosis from low-q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a1782c9b04f11f9dbcf029b79aa974
https://europepmc.org/articles/PMC6460640/

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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

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Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

Autor: M. M. Abelleyro, D. Neme, C. D. De Brasi, Vanina Daniela Marchione, L. Elhelou, Liliana Carmen Rossetti, Claudia Pamela Radic

Large F8 deletions cause 10-15% of severe-Haemophilia A (HA) cases and associate with the highest clinical/biochemical severity and with significantly augmented risks for developing inhibitors against therapeutic FVIII. Only 45-50% of severe-HA cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd27ff4b43fe1ada8276b666c13bb08
https://europepmc.org/article/med/29534251

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A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A

Autor: M. Candela, M. M. Abelleyro, Claudia Pamela Radic, C. D. De Brasi, Vanina Daniela Marchione, M. de Tezanos Pinto, Liliana Carmen Rossetti, J. R. Zuccoli, D. Neme

Fil: Marchione, Vanina Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de la Hemofilia Alfredo Pavlovsky; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682b1c701b07f37ce5f17883e77841c9
Wiley Online Library

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Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR

Autor: Vanina Daniela Marchione, Ariela Freya Fundia, M. M. Abelleyro, Irene Larripa, Claudia Pamela Radic, Tomás Tetzlaff, C. D. De Brasi, Liliana Carmen Rossetti

Publikováno v: Haemophilia : the official journal of the World Federation of HemophiliaReferences. 21(3)

Fil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24479f1eeb28ef560ed70d66f4d0565
https://pubmed.ncbi.nlm.nih.gov/25753911

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