Search Results - "De Brasi, C"

Developing a new generation of tests for genotyping hemophilia‐causative rearrangements involving int22h and int1h hotspots in the factor VIII gene by ROSSETTI, L. C., RADIC, C. P., LARRIPA, I. B., DE BRASI, C. D.

“…Background: Inversions of F8‐intron 22 (Inv22) and F8‐intron 1 (Inv1) are responsible for 45–50% of severe hemophilia A cases. Objective: In order to improve…”
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Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia by Ferri, C., Weich, N., Gutiérrez, L., De Brasi, C., Bengió, M.R., Zapata, P., Fundia, A., Larripa, I.

“…The BCR-ABL1 oncogene is associated with chronic myeloid leukemia (CML) pathogenesis, but the molecular mechanisms that initiate leukemogenesis are still…”
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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 by Radic, C. P., Rossetti, L. C., Abelleyro, M. M., Tetzlaff, T., Candela, M., Neme, D., Sciuccati, G., Bonduel, M., Medina‐Acosta, E., Larripa, I. B., Tezanos Pinto, M., De Brasi, C. D.

“…Summary Background The recessive X‐linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal…”
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A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A by Marchione, V. D., Zuccoli, J. R., Abelleyro, M. M., Radic, C. P., Neme, D., Candela, M., Tezanos Pinto, M., De Brasi, C. D., Rossetti, L. C.

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Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis by Scheps, K., Meyer, C., Bestach, Y., Enrico, A., Bengió, R., Rodríguez‐Zubieta, M., Rivas, M., De Brasi, C., Larripa, I.

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Genetic testing in bleeding disorders by de Brasi, C., El-Maarri, O., Perry, D. J., Oldenburg, J., Pezeshkpoor, B., Goodeve, A.

“…Summary The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable…”
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Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update by DE BRASI, C. D., BOWEN, D. J.

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Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR by Abelleyro, M. M., Radic, C. P., Tetzlaff, T., Marchione, V., Fundia, A. F., Larripa, I. B., Rossetti, L. C., De Brasi, C. D.

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Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks by Rossetti, L. C., Szurkalo, I., Radic, C. P., Abelleyro, M. M., Primiani, L., Neme, D., Candela, M., Bianco, R. P., de Tezanos Pinto, M., Larripa, I. B., De Brasi, C. D.

“…Summary Inhibitor development against exogenous factor VIII is a severe impairment of replacement therapy affecting 18% of Argentine patients with severe…”
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Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis by MACHADO, F. B., ALVES DA SILVA, A. F., ROSSETTI, L. C., DE BRASI, C. D., MEDINA-ACOSTA, E.

“…The extraordinary heterogeneous nature of the deleterious mutations in the F8 gene that lead to functional deficiency of clotting factor VIII in haemophilia A…”
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The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males by De Brasi, Carlos D, Bowen, Derrick J, Collins, Peter W, Larripa, Irene B

“…The inactivation of one of the two X chromosomes in females is a random process associated with methylation principally in CpG islands. The methylation status…”
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Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long‐distance PCR by De Brasi, Carlos D., Bowen, Derrick J., Collins, Peter W., Larripa, Irene B.

“…A rapid, non‐radioactive, PCR‐based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method…”
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PB0164 Full Characterization of Three F8 Deletions Causing Severe Hemophilia A with High Responding FVIII Inhibitors may be Associated with the Mechanism of Microhomology-Mediated Break-Induced Replication by Abelleyro, M., Ziegler, B., Neme, D., Rossetti, L., Radic, C., De Brasi, C.

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Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A by De Brasi, C, Candela, M, Cermelj, M, Slavutsky, I, Larripa, I, Bianco, R P, De Tezanos Pinto, M

“…Intron 22 factor VIII gene inversion (Inv22) is the most common mutation causing severe haemophilia A (SHA). We studied Inv22 in 34 SHA affected families by…”
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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 by Luce, L., Carcione, M., Mazzanti, C., Szijan, I., Menazzi, S., Francipane, L., Nevado, J., Lapunzina, P., Rossetti, L., Radic, P., Abelleyro, M., De Brasi, C., Giliberto, F.

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CAMINATA CROMOSÓMICA POR LA HEMOFILIA. UNA ENFERMEDAD HISTÓRICA CON UNA GENÉTICA MOLECULAR ACTUAL by Fundia, A F, De Brasi, C D

“…La hemofilia A (HA) y B (HB) tienen herencia recesiva ligada al cromosoma X y son causadas por variantes patogénicas en los genes F8 (HA) y F9 (HB). Por sus…”
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A new polymorphism in the human factor VIII gene : implications for linkage analysis in haemophilia A and for the evolution of int22h sequences by BOWEN, Derrick J, DE BRASI, Carlos D, LARRIPA, Irene B, COLLINS, Peter W

“…A new polymorphism in the human factor VIII gene has been localized and characterized. It is a biallelic, single nucleotide polymorphism located in intron 22…”
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ANÁLISIS FARMACOGENÉTICO DE LAS VARIANTES RS4680 Y RS4633 DEL GEN COMT EN PACIENTES ARGENTINOS CON DOLOR by Fontecha, M B, Abelleyro, M M, Fontanini, E A, Anadón, M R, De Brasi, C D, Sivanto, M V, Fundia, A F

“…Las variantes del gen de la catecol-metiltransferasa (COMT) actúan como reguladores de las vías de señalización del dolor y están asociadas con las diferencias…”
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FARMACOGENÉTICA DE LA ANALGESIA CON OPIÁCEOS EN PACIENTES ARGENTINOS CON DOLOR CRÓNICO by Abelleyro, M, Fontanini, E A, Fontecha, M B, De Brasi, C D, Sivanto, M D V, Fundia, A F

“…El dolor crónico es una enfermedad multifactorial que afecta al 22% de los pacientes en el mundo que es tratado con opiáceos. La heterogeneidad en la respuesta…”
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Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects by Rossetti, Liliana C, Radic, Claudia Pamela, Candela, Miguel, Bianco, Raul Perez, de Tezanos Pinto, Miguel, Goodeve, Anne, Larripa, Irene B, De Brasi, Carlos D

“…From the Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina de Buenos Aires, Argentina (LCR, CPR, MC, RPB, MdTP, IBL,…”
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