MICAELA ALDANA MONGELOS; FERNANDO NICOLÁS SOSA; GONZALO EZEQUIEL PINEDA; GABRIELA FIORENTINO; ADRIANA SANTIAGO; MIGUEL MARTÍN ABELLEYRO; LILIANA CARMEN ROSSETTI; RAMÓN EXENI; CARLOS DANIEL DE BRASI; MARINA SANDRA PALERMO; MARÍA VICTORIA RAMOS

Assessment of interleukin-10 promoter variant (−1082A/G) and cytokine production in patients with hemolytic uremic syndrome

Frontiers in Pediatrics; Año: 2023 vol. 11

JULIANA HAGEMBE; PIERRE TOULON; ASSADHAFFAR; ALAIN BAUMANN; ANNETTE BOWYER; SILMARA MONTALVAO; EMNA GOUIDER; CARLOS DE BRASI; CHEN DONG; GLENN F. PIERCE

A foundation to better care: Target product profile for haemophilia and Von Willebrand disease point-of-care diagnostics in low-resource settings

HAEMOPHILIA; Lugar: Londres; Año: 2023 vol. 29 p. 1376 - 1381

RADIC, CLAUDIA P.; ABELLEYRO, MIGUEL M.; ZIEGLER, BETIANA; MARCHIONE, VANINA D.; NEVADO, JULIÁN; LAPUNZINA, PABLO; SCIUCCATI, GABRIELA; NEME, DANIELA; ROSSETTI, LILIANA C.; BONDUEL, MARIANA; DE BRASI, CARLOS D.

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update

HAEMOPHILIA THE OFFICIAL JOURNAL OF THE WORLD FEDERATION OF HEMOPHILIA; Año: 2023 vol. 29 p. 844 - 854

WOODS, ADRIANA INÉS; ROSSETTI, LILIANA CARMEN; PAIVA, JUVENAL; DE BRASI, CARLOS DANIEL; ROMERO, MARÍA LUCILA; CASINELLI, MARÍA MARTA; BLANCO, ALICIA NOEMÍ; SÁNCHEZ-LUCEROS, ANALÍA

Type 2N von Willebrand disease: Is it always a recessive trait?

THROMBOSIS RESEARCH; Año: 2021 vol. 198 p. 49 - 51

LUCE, LEONELA; ABELLEYRO, MARTÍN M.; CARCIONE, MICAELA; MAZZANTI, CHIARA; ROSSETTI, LILIANA; RADIC, PAMELA; SZIJAN, IRENE; MENAZZI, SEBASTIÁN; FRANCIPANE, LILIANA; NEVADO, JULIÁN; LAPUNZINA, PABLO; DE BRASI, CARLOS; GILIBERTO, FLORENCIA

Analysis of complex structural variants in the DMD gene in one family

NEUROMUSCULAR DISORDERS; Año: 2021 vol. 31 p. 253 - 263

GUTIÉRREZ, LEANDRO G.; ABELLEYRO, MIGUEL M.; RUIZ, MARÍA SOL; ANCHORDOQUI, MARÍA SOL; FREITAS, JOSEFINA; BIANCHINI, MICHELE; LARRIPA, IRENE B.; DE BRASI, CARLOS D.

Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: Proof of concept

CLINICAL CHEMISTRY AND LABORATORY MEDICINE; Año: 2021

ABELLEYRO, MIGUEL MARTÍN; RADIC, CLAUDIA PAMELA; MARCHIONE, VANINA DANIELA; WAISMAN, KAREN; TETZLAFF, TOMAS; NEME, DANIELA; ROSSETTI, LILIANA CARMEN; DE BRASI, CARLOS DANIEL

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

HUMAN MUTATION; Año: 2020 vol. 41 p. 825 - 836

SRIVASTAVA, ALOK; SANTAGOSTINO, ELENA; DOUGALL, ALISON; KITCHEN, STEVE; SUTHERLAND, MEGAN; PIPE, STEVEN W.; CARCAO, MANUEL; MAHLANGU, JOHNNY; RAGNI, MARGARET V.; WINDYGA, JERZY; LLINÁS, ADOLFO; GODDARD, NICHOLAS J.; MOHAN, RICHA; POONNOOSE, PRADEEP M.; FELDMAN, BRIAN M.; LEWIS, SANDRA ZELMAN; VAN DEN BERG, H MARIJKE; PIERCE, GLENN F.; WFH GUIDELINES FOR THE MANAGEMENT OF HEMOPHILIA PANELISTS AND CO-AUTHORS*

WFH Guidelines for the Management of Hemophilia, 3rd edition

Haemophilia : the official journal of the World Federation of Hemophilia; Año: 2020 vol. 26 p. 1 - 158

PANEK, CECILIA ANALIA; BRUBALLA, ANDREA CECILIA; PINEDA, GONZALO EZEQUIEL; DE BRASI, CARLOS; FERNÁNDEZ-BRANDO, ROMINA JIMENA; MEJÍAS, MARÍA PILAR; RAMOS, MARÍA VICTORIA; PALERMO, MARINA SANDRA

Cytokines use different intracellular mechanisms to upregulate the membrane expression of CX 3 CR1 in human monocytes

MOLECULAR IMMUNOLOGY; Año: 2019 vol. 108 p. 23 - 33

FERRI, C.; WEICH, N.; GUTIÉRREZ, L.; DE BRASI, C.; BENGIÓ, M.R.; ZAPATA, P.; FUNDIA, A.; LARRIPA, I.

Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia

GENE; Año: 2019 vol. 694 p. 71 - 75

ABELLEYRO, MIGUEL MARTÍN; MARCHIONE, VANINA DANIELA; PALMITELLI, MICAELA; RADIC, CLAUDIA PAMELA; NEME, DANIELA; LARRIPA, IRENE BEATRIZ; MEDINA-ACOSTA, ENRIQUE; ROSSETTI, LILIANA CARMEN; DE BRASI, CARLOS DANIEL

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

EUROPEAN JOURNAL OF HUMAN GENETICS; Año: 2019 vol. 27 p. 603 - 611

SCHEPS, K.; MEYER, C.; BESTACH, Y.; ENRICO, A.; BENGIÓ, R.; RODRÍGUEZ-ZUBIETA, M.; RIVAS, M.; DE BRASI, C.; LARRIPA, I.

Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY; Lugar: Londres; Año: 2018

ABELLEYRO, M.M.; MARCHIONE, V.D.; ELHELOU, L.; RADIC, C.P.; ROSSETTI, L.C.; NEME, D.; DE BRASI, C.D.

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

THROMBOSIS AND HAEMOSTASIS; Año: 2018 vol. 118 p. 617 - 620

ALMEJÚN, MARÍA BELÉN; BORGE, MERCEDES; COLADO, ANA; ELÍAS, ESTEBAN ENRIQUE; PODAZA, ENRIQUE; RISNIK, DENISE; DE BRASI, CARLOS DANIEL; STANGANELLI, CARMEN; SLAVUTSKY, IRMA; CABREJO, MARÍA; FERNÁNDEZ-GRECCO, HORACIO; BEZARES, RAIMUNDO FERNANDO; CRANCO, SANTIAGO; BURGOS, RUBÉN ÁNGEL; SÁNCHEZ-ÁVALOS, JULIO CÉSAR; OPPEZZO, PABLO; GIORDANO, MIRTA; GAMBERALE, ROMINA

Sphingosine kinase 1 participates in the activation, proliferation and survival of chronic lymphocytic leukemia cells.

HAEMATOLOGICA; Año: 2017 vol. 102

MARCHIONE, V.D.; ZUCCOLI, J.R.; ABELLEYRO, M.M.; RADIC, C.P.; NEME, D.; CANDELA, M.; DE TEZANOS PINTO, M.; DE BRASI, C.D.; ROSSETTI, L.C.

A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A

HAEMOPHILIA THE OFFICIAL JOURNAL OF THE WORLD FEDERATION OF HEMOPHILIA; Lugar: Londres; Año: 2017 vol. 23 p. 166 - 169

ABELLEYRO MM; ROSSETTI LC; CURTO MA; RADIC CP; MARCHIONE VD; DE BRASI CD.

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

THROMBOSIS AND HAEMOSTASIS; Lugar: Stuttgart ; Año: 2016 vol. 115 p. 678 - 681

ABELLEYRO MM; RADIC CP; TETZLAFF T; MARCHIONE V; FUNDIA AF; LARRIPA IB; ROSSETTI LC; DE BRASI CD

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

HAEMOPHILIA; Lugar: Londres; Año: 2015 vol. 21 p. 247 - 251

RADIC CP; ROSSETTI LC; ABELLEYRO MM; TETZLAFF T; CANDELA M; NEME D; SCIUCCATI G; BONDUEL M; MEDINA-ACOSTA E; LARRIPA IB; DE TEZANOS PINTO M.; DE BRASI CD

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

JOURNAL OF THROMBOSIS AND HAEMOSTASIS; Lugar: Londres; Año: 2015 vol. 13 p. 530 - 539

DE BRASI CD; EL-MAARRI O; PERRY DJ; OLDENBURG J; PEZESHKPOOR B; GOODEVE A

Genetic testing in bleeding disorders.

HAEMOPHILIA; Lugar: Londres; Año: 2014 vol. 20 p. 54 - 58

MACHADO FB; MACHADO FB; FARIA MA; LOVATEL VL; ALVES DA SILVA AF; RADIC CP; DE BRASI CD; RIOS ÁF; DE SOUSA LOPES SM; DA SILVEIRA LS; RUIZ-MIRANDA CR; RAMOS ES; MEDINA-ACOSTA E

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

PLOS ONE; Lugar: San Francisco; Año: 2014 vol. 9 p. 1 - 13

GONZALEZ MS; DE BRASI CD; FERRI CA; BENGIÓ R; BIANCHINI M; LARRIPA IB

CAMKIIg, HSP70 and HSP90 transcripts are differentially expressed in chronic myeloid leukemia cells from patients with resistant mutated disease.

LEUKEMIA AND LYMPHOMA; Lugar: Londres; Año: 2014 vol. 55 p. 2101 - 2108

GILIBERTO F; RADIC CP; LUCE L; FERREIRO V; DE BRASI CD; SZIJAN I

Symptomatic female carriers of Duchenne Muscular Dystrophy (DMD): genetic and clinical characterization

JOURNAL OF THE NEUROLOGICAL SCIENCES; Lugar: Amsterdam; Año: 2014 vol. 336 p. 36 - 41

GONZALEZ MS; DE BRASI CD; BIANCHINI M; GARGALLO P; STANGANELLI C; ZALCBERG I; LARRIPA IB

Improved diagnosis of the transition to JAK2 (V617F) homozygosity: the key feature for predicting the evolution of myeloproliferative neoplasms.

PLOS ONE; Lugar: San Francisco; Año: 2014 vol. 9 p. 1 - 8

ROSSETTI LC; SZURKALO I; RADIC CP; ABELLEYRO MM; PRIMIANI L; NEME D; CANDELA M; PÉREZ BIANCO R; TEZANOS PINTO M; LARRIPA IB; DE BRASI CD

Factor VIII genotype characterisation of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks.

HAEMOPHILIA; Lugar: Londres; Año: 2013 vol. 19 p. 511 - 518

RADIC CP; ROSSETTI LC; ABELLEYRO MM; CANDELA M; PÉREZ BIANCO R; TEZANOS PINTO M, ; LARRIPA IB; GOODEVE A; DE BRASI CD

Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B.

THROMBOSIS AND HAEMOSTASIS; Lugar: Stuttgart ; Año: 2013 vol. 109 p. 24 - 33

CITTERIO CE; ROSSETTI LC; SOUCHON PF; MORALES C; THOUVARD-VIPREY M; SALMON-MUSIAL AS; MAURAN PL; DOCO-FENZY M; GONZÁLEZ-SARMIENTO R; RIVOLTA CM; DE BRASI CD; TARGOVNIK HM

Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2013 vol. 381 p. 220 - 229

MIGUEL MARTÍN ABELLEYRO; LILIANA CARMEN ROSSETTI; CLAUDIA PAMELA RADIC; MIGUEL CANDELA; IRENE BEATRIZ LARRIPA; CARLOS DANIEL DE BRASI

Are int22h mediated deletions a common cause of hemophilia?

ANNALS OF HEMATOLOGY; Lugar: Berlin; Año: 2012 vol. 91 p. 633 - 636

LILIANA C. ROSSETTI ; CLAUDIA P. RADIC ; MIGUEL M. ABELLEYRO ; IRENE B. LARRIPA ; CARLOS D. DE BRASI

Eighteen years of genotyping the hemophilia inversion hotspot. From Southern blot to inverse shifting-PCR.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; Lugar: Basel; Año: 2011 vol. 12 p. 7271 - 7271

FILIPE BRUM MACHADO ; ANTONIO FRANCISCO ALVES DA SILVA; LILIANA CARMEN ROSSETTI; CARLOS DANIEL DE BRASI; ENRIQUE MEDINA-ACOSTA

Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis

HAEMOPHILIA; Lugar: Londres; Año: 2011 vol. 17 p. 257 - 266

MARÍA FERNANDA NORIEGA; CARLOS DE BRASI; , MARINA NARBAITZ; ANDREA RODRÍGUEZ; IRMA SLAVUTSKY

Double BCL2 rearrangement involving MBR and mcr in a case of follicular lymphoma. Molecular and clinical characteristics

PATHOLOGY; Lugar: Londres; Año: 2010 vol. 42 p. 598 - 601

MARIANA S. GONZALEZ; CARLOS D. DE BRASI; MICHELE BIANCHINI; PATRICIA GARGALLO; BEATRIZ MOIRAGUI; RAQUEL BENGIÓ; IRENE B. LARRIPA

BAX/BCL-XL gene expression ratio inversely correlates with disease progression in chronic myeloid leukemia

BLOOD CELLS MOLECULES AND DISEASES; Lugar: Amsterdam; Año: 2010 vol. 45 p. 192 - 196

RADIC CP, ROSSETTI LC, ZUCCOLI JR, ABELLEYRO MM, LARRIPA IB, DE BRASI CD.

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples.

PRENATAL DIAGNOSIS; Lugar: New York ; Año: 2009 vol. 29 p. 1183 - 1185

RADIC CP, ROSSETTI LC, LARRIPA IB, DE BRASI CD.

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene

JOURNAL OF THROMBOSIS AND HAEMOSTASIS; Lugar: Oxford, Inglaterra; Año: 2008 vol. 6 p. 830 - 836

BIANCHINI M, DE BRASI C, GARGALLO P, GONZALE M, BENGIÓ R, LARRIPA I.

Specific assessment of BCR-ABL transcript overexpression and imatinib resistance in chronic myeloid leukemia patients

EUROPEAN JOURNAL OF HAEMATOLOGY; Lugar: Copenhagen, Denmark; Año: 2008 vol. 82 p. 292 - 300

DE BRASI CD, BOWEN DJ.

Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS; Lugar: Oxford, Inglaterra.; Año: 2008 vol. 6 p. 1822 - 1824

ROSSETTI LC, RADIC CP, CANDELA M, PÉREZ BIANCO R, DE TEZANOS PINTO M, GOODEVE A, LARRIPA IB, DE BRASI CD.

Sixteen novel haemophilia A causative mutations in the first Argentinean series of severe molecular defects

HAEMATOLOGICA; Lugar: Pavia, Italia; Año: 2007 vol. 92 p. 842 - 845

ROSSETTI LC, RADIC CP, LARRIPA IB, DE BRASI CD.

Genotyping the hemophilia inversion hotspot by use of inverse PCR.

CLINICAL CHEMISTRY; Lugar: Washinton DC; Año: 2005 vol. 51 p. 1154 - 1158

ROSSETTI LC, CANDELA M, BIANCO RP, DE TEZANOS PINTO M, WESTERN A, GOODEVE A, LARRIPA IB, DE BRASI CD.

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature.

BLOOD COAGULATION & FIBRINOLYSIS : AN INTERNATIONAL JOURNAL IN HAEMOSTASIS AND THROMBOSIS.; Lugar: New York, USA; Año: 2004 vol. 15 p. 569 - 572

BELLI C, BOWEN DJ, DE BRASI C, LARRIPA I.

A single, multiplex analysis for all relevant activating NRAS gene mutations using heteroduplex generators.

BRITISH JOURNAL OF HAEMATOLOGY; Lugar: Oxford, UK; Año: 2004 vol. 126 p. 602 - 605

NORIEGA MF, DE BRASI C, NARBAITZ M, SLAVUTSKY I.

Incidence of BCL-2 gene rearrangements in Argentinean non-Hodgkin lymphoma patients: increased frequency of breakpoints outside of MBR and MCR.

BLOOD CELLS MOLECULES AND DISEASES; Lugar: Orlando FL, USA; Año: 2004 vol. 32 p. 232 - 239

ROSSETTI LC, GOODEVE A, LARRIPA IB, DE BRASI CD.

Homeologous recombination between AluSx-sequences as a cause of hemophilia.

HUMAN MUTATION; Lugar: New Jersey; Año: 2004 vol. 24 p. 440 - 440

FUNDIA AF, DE BRASI C, LARRIPA I.

Feasibility of a cost-effective approach to evaluate short tandem repeat markers suitable for chimerism follow-up.

MOLECULAR DIAGNOSIS; Lugar: Minneapolis, USA; Año: 2004 vol. 8 p. 87 - 91

BELLI C, DE BRASI C, LARRIPA I.

Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology.

HUMAN MUTATION; Lugar: New Jersey, USA; Año: 2003 vol. 21 p. 132 - 137

DE BRASI CD, ROSSETTI LC, LARRIPA IB.

Rapid genotyping of XbaI and MspI DNA polymorphisms of the human factor VIII gene: estimation of their combined heterozygosity in the Argentinean population.

HAEMATOLOGICA; Lugar: Pavia, Italia; Año: 2003 vol. 88 p. 232 - 234

DE BRASI CD, BOWEN DJ, COLLINS PW, LARRIPA IB.

The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males.

JOURNAL OF HUMAN GENETICS; Lugar: Tokio Inc; Año: 2002 vol. 47 p. 239 - 242

BOWEN DJ, DE BRASI CD, LARRIPA IB, COLLINS PW.

A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences.

BRITISH JOURNAL OF HAEMATOLOGY; Lugar: Oxford, UK; Año: 2000 vol. 111 p. 544 - 548

DE BRASI C, CANDELA M, CERMELJ M, SLAVUTSKY I, LARRIPA I, BIANCO RP, DE TEZANOS PINTO M.

Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A.

HAEMOPHILIA; Lugar: Oxford, UK; Año: 2000 vol. 06 p. 21 - 22

DE BRASI C, NARBAITZ M, RODRIGUEZ A, LARRIPA I, SLAVUTSKY I

Bcl-2 molecular analysis in paraffin-embedded biopsies from diffuse large B-cell lymphomas.

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires, Argentina; Año: 2000 vol. 60 p. 305 - 310

DE BRASI CD, BOWEN DJ, COLLINS PW, LARRIPA IB.

Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR.

BRITISH JOURNAL OF HAEMATOLOGY; Lugar: Oxford, UK; Año: 1999 vol. 107 p. 566 - 568

DE BRASI C, SLAVUTSKY I, LARRIPA I.

Molecular Genetics of Hemophilia A

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 1996 vol. 56 p. 509 - 517