Výsledky vyhledávání - "Claudia Pamela Radic"

Akademický článek

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.

Autor: Filipe Brum Machado, Fabricio Brum Machado, Milena Amendro Faria, Viviane Lamim Lovatel, Antonio Francisco Alves da Silva, Claudia Pamela Radic, Carlos Daniel De Brasi, Álvaro Fabricio Lopes Rios, Susana Marina Chuva de Sousa Lopes, Leonardo Serafim da Silveira, Carlos Ramon Ruiz-Miranda, Ester Silveira Ramos, Enrique Medina-Acosta

Publikováno v: PLoS ONE, Vol 9, Iss 7, p e103714 (2014)

X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female eutherian mammals. XCI assures monoallelic expression in each cell and compensation for dosage-s

Externí odkaz: https://doaj.org/article/0619724d7a9d40a59d8c3622c9c79947

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Akademický článek

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects

Autor: Liliana C. Rossetti, Claudia Pamela Radic, Miguel Candela, Raúl Pérez Bianco, Miguel de Tezanos Pinto, Anne Goodeve, Irene B. Larripa, Carlos D. De Brasi

Publikováno v: Haematologica, Vol 92, Iss 6 (2007)

Hemophilia A (HA) is caused by heterogeneous mutations in the factor VIII gene (F8). This paper reports 16 novel small F8-mutations and rearrangements in a series of 80 Argentinian families with severe-HA. Using an updated scheme for F8-analysis, we

Externí odkaz: https://doaj.org/article/52936d26ad09443eaddf0690ec512ed0

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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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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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EP.62A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman

Autor: María Micaela Carcione, Carlos Daniel de Brasi, Liliana Francipane, Julián Nevado, Pablo Lapunzina, Irena Szijan, Leonela Natalia Luce, Miguel Martin Abelleyro, Chiara Mazzanti, Liliana Carmen Rossetti, Florencia Giliberto, Sebastián Menazzi, Claudia Pamela Radic

Publikováno v: Neuromuscular Disorders. 29:S170-S171

Fil: Luce, Leonela Natalia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Microbiologia, Inmunologia y Biotecnologia. Catedra de Genetica y Biologia Molecular; Argentina. Consejo Nacional de Investigaciones Cientific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7dc4e4ed65732175db55cd16f1df70b2
https://doi.org/10.1016/j.nmd.2019.06.468

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Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X‐chromosome inactivation

Autor: M. Candela, M. Bonduel, M. M. Abelleyro, Irene Larripa, G. Sciuccati, D. Neme, Claudia Pamela Radic, Tomás Tetzlaff, Enrique Medina-Acosta, M. de Tezanos Pinto, C. D. De Brasi, Liliana Carmen Rossetti

Publikováno v: Journal of Thrombosis and Haemostasis. 13:530-539

Background: The recessive X-linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal factor VIII activity (FVIII:C). Objective: To propose an integrative assessment model for the binary role

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24eb16deae82221337a0485cc0e1c4af
https://doi.org/10.1111/jth.12854

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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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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

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