Developing a new generation of tests for genotyping hemophilia‐causative rearrangements involving int22h and int1h hotspots in the factor VIII gene
ROSSETTI, L. C., RADIC, C. P., LARRIPA, I. B., DE BRASI, C. D.
Published in Journal of thrombosis and haemostasis (01.05.2008)
Published in Journal of thrombosis and haemostasis (01.05.2008)
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Journal Article
Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation
Abelleyro, M M, Marchione, V D, Elhelou, L, Radic, C P, Rossetti, L C, Neme, D, De Brasi, C D
Published in Thrombosis and haemostasis (01.03.2018)
Published in Thrombosis and haemostasis (01.03.2018)
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Journal Article
Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X‐chromosome inactivation
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.
Published in Journal of thrombosis and haemostasis (01.04.2015)
Published in Journal of thrombosis and haemostasis (01.04.2015)
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Journal Article
A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A
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.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2017)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2017)
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Journal Article
Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis
MACHADO, F. B., ALVES DA SILVA, A. F., ROSSETTI, L. C., DE BRASI, C. D., MEDINA-ACOSTA, E.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2011)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2011)
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Journal Article
Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR
Abelleyro, M. M., Radic, C. P., Tetzlaff, T., Marchione, V., Fundia, A. F., Larripa, I. B., Rossetti, L. C., De Brasi, C. D.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
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Journal Article
Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks
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.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2013)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2013)
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Journal Article
A new polymorphism in the human factor VIII gene : implications for linkage analysis in haemophilia A and for the evolution of int22h sequences
BOWEN, Derrick J, DE BRASI, Carlos D, LARRIPA, Irene B, COLLINS, Peter W
Published in British journal of haematology (01.11.2000)
Published in British journal of haematology (01.11.2000)
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Journal Article
ANÁLISIS FARMACOGENÉTICO DE LAS VARIANTES RS4680 Y RS4633 DEL GEN COMT EN PACIENTES ARGENTINOS CON DOLOR
Fontecha, M B, Abelleyro, M M, Fontanini, E A, Anadón, M R, De Brasi, C D, Sivanto, M V, Fundia, A F
Published in BAG. Journal of basic and applied genetics (01.12.2022)
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Published in BAG. Journal of basic and applied genetics (01.12.2022)
Journal Article
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
Rossetti, Liliana C, Radic, Claudia Pamela, Candela, Miguel, Bianco, Raul Perez, de Tezanos Pinto, Miguel, Goodeve, Anne, Larripa, Irene B, De Brasi, Carlos D
Published in Haematologica (Roma) (01.06.2007)
Published in Haematologica (Roma) (01.06.2007)
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Journal Article
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
Rossetti, Liliana C, Radic, Claudia P, Abelleyro, Miguel M, Larripa, Irene B, De Brasi, Carlos D
Published in International Journal of Molecular Sciences (01.10.2011)
Published in International Journal of Molecular Sciences (01.10.2011)
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Book Review
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
MACHADO, F. B., ALVES DA SILVA, A. F., ROSSETTI, L. C., DE BRASI, C. D., MEDINA-ACOSTA, E.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2011)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2011)
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CORRELACIÓN FENOTÍPICA/MOSAICO GERMINAL Y SOMÁTICO EN UNA FAMILIA AFECTADA POR HEMOFILIA A SEVERA-LEVE: IMPLICANCIAS CLÍNICAS Y DIAGNÓSTICAS
Marchione, VD, Abelleyro, MM, Radic, CP, Rossetti, LC, Neme, D, Elhelou, L, Brasi, CD De, VD, Marchione
Published in BAG. Journal of basic and applied genetics (01.01.2017)
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Published in BAG. Journal of basic and applied genetics (01.01.2017)
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