Search Results - "Radic, 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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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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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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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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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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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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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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Teorijski i Metodološki Aspekti Uticaja Intelektualnog Kapitala na Finansijske Performanse by Radić, Siniša Č

“…U teoriji i praksi menadžmenta dominira stav da je intelektualni kapital osnov konkurentske prednosti u ekonomiji znanja. Međutim, merenje efekata ulaganja u…”
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