Search Results - "De Brasi, C D"

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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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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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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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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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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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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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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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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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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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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Genotyping the Hemophilia Inversion Hotspot by Use of Inverse PCR by Rossetti, Liliana Carmen, Radic, Claudia Pamela, Larripa, Irene Beatriz, De Brasi, Carlos Daniel

“…Factor VIII intron 22 inversions (Inv22) cause 40%-45% of severe cases of hemophilia A in all human populations. Currently, Inv22 can be analyzed either by…”
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Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR by Rossetti, Liliana C, Radic, Claudia P, Abelleyro, Miguel M, Larripa, Irene B, De Brasi, Carlos D

“…The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe…”
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ANÁLISIS DE FENOTIPOS METABOLIZADORES EN PACIENTES ARGENTINOS CON DOLOR CRÓNICO TRATADOS CON OPIOIDES by Fontecha, MB, Fontanini, EA, Abelleyro, MM, Anadón, MDR, De Brasi, CD, Sivanto, M, Fundia, AF

“…Los opioides se utilizan frecuentemente para el dolor crónico (DC), aunque hay gran variabilidad en la eficacia terapéutica. La principal enzima metabolizadora…”
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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: NOVEL INFORMATIVE STR MARKERS FOR HAEMOPHILIA A by MACHADO, F. B., ALVES DA SILVA, A. F., ROSSETTI, L. C., DE BRASI, C. D., MEDINA-ACOSTA, E.

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CORRELACIÓN FENOTÍPICA/MOSAICO GERMINAL Y SOMÁTICO EN UNA FAMILIA AFECTADA POR HEMOFILIA A SEVERA-LEVE: IMPLICANCIAS CLÍNICAS Y DIAGNÓSTICAS by Marchione, VD, Abelleyro, MM, Radic, CP, Rossetti, LC, Neme, D, Elhelou, L, Brasi, CD De, VD, Marchione

“…La Hemofilia A (HA) es una coagulopatía ligada al X recesiva prevalente (1:5000) causada por defectos en el F8 que se expresa en varones hemicigotas y muy…”
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Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature by Rossetti, Liliana C, Candela, Miguel, Bianco, Raúl Pérez, de Tezanos Pinto, Miguel, Western, Andrea, Goodeve, Anne, Larripa, Irene B, De Brasi, Carlos D

“…Besides intron 22 factor VIII gene inversion (Inv22), intron 1 inversion (Inv1) has recently been reported as a further recurrent mutation that causes…”
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