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

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

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

NEUROMUSCULAR DISORDERS; Lugar: Amsterdam; Año: 2021

ABELLEYRO, MM, *PRIMERA AUTORÍA COMPARTIDA; RADIC CP, *PRIMERA AUTORÍA COMPARTIDA; MARCHIONE VD; WAISMAN K; TETZLAFF T; NEME D; ROSSETTI CL; DE BRASI, CD

Molecular insights into the mechanism of non-recurrent F8 structural variants: full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in Hemophilia A.

HUMAN MUTATION; Año: 2020

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

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

ABELLEYRO, M.M.; MARCHIONE, V.D.; ELHELOU L; RADIC CP; ROSSETTI CL; NEME D; DE BRASI CD

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; Lugar: Stuttgart ; Año: 2018 p. 617 - 620

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; Año: 2017 vol. 23 p. 166 - 169

MARTÍN M ABELLEYRO; LILIANA C. ROSSETTI; MARIA DE LOS ANGELES CURTO; CLAUDIA P. RADIC; VANINA MARCHIONE; CARLOS D. DE BRASI

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 VD; FUNDIA A; 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

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

GILIBERTO F; RADIC P; LUCE L; FERREIRO V; DE BRASI C; SZIJAN I

Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization.

JOURNAL OF THE NEUROLOGICAL SCIENCES; Lugar: Amsterdam; Año: 2014

FILIPE BRUM MACHADO; FABRICIO BRUM MACHADO; MILENA AMENDRO FARIA; VIVIANE LAMIM LOVATE; ANTONIO FRANCISCO ALVES DA SILVA; CLAUDIA PAMELA RADIC; CARLOS DANIEL DE BRAS; ALVARO FABRICIO LOPES RIOS; SUSANA MARINA CHUVA DE SOUSA LOPES; LEONARDO SERAFIM DA SILVEIRA; CARLOS RAMON RUIZMIRANDA; ESTER SILVEIRA RAMOS; ENRIQUE MEDINA-ACOSTA

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

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

Factor VIII genotype characterization 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; PEREZ 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. 1 - 10

ABELLEYRO MM; ROSSETTI LC; RADIC CP; CANDELA M; LARRIPA IB; DE BRASI CD

Are int22h mediated deletions a common cause of hemophilia?

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

ROSSETTI LC; RADIC CP; ABELLEYRO MM; LARRIPA IB; DE BRASI CD

Eighteen Years of Molecular 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 - 7285

CLAUDIA P. RADIC; LILIANA C. ROSSETTI; JOHANNA R. ZUCCOLI; MARTÍN M ABELLEYRO; IRENE B. LARRIPA; CARLOS D. DE BRASI

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

PRENATAL DIAGNOSIS; Año: 2009 p. 1183 - 1185

ROSSETTI, LILIANA CARMEN, *CONSIDERADOS PRIMEROS AUTORES; RADIC CLAUDIA PAMELA, *CONSIDERADOS PRIMEROS AUTORES; LARRIPA, IRENE BEATRIZ; DE BRASI, CARLOS DANIEL

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: Londres; Año: 2008 vol. 6 p. 830 - 836

ROSSETTI L.C; RADIC CP; CANDELA M; PÉREZ BIANCO R; DE TEZANOS PINTO M; GOODEVE A; LARRIPA I.B; DE BRASI C.D.

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

HAEMATOLOGICA; Año: 2007 vol. 92 p. 842 - 845

LILIANA C. ROSSETTI; C. PAMELA RADIC; IRENE B. LARRIPA; CARLOS D. DE BRASI

Genotyping the Hemophilia Inversion Hotspot by use of Inverse PCR

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