RADIC, CLAUDIA P. (PRIMERA AUTORÍA COMPARTIDA); ABELLEYRO, MIGUEL M. (PRIMERA AUTORÍA COMPARTIDA); 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

MOLINA, MARICEL F.; PIO, MAURICIO GOMES; SCHEPS, KAREN G.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; TARGOVNIK, HÉCTOR M.; RIVOLTA, CARINA M.

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2022 vol. 558

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

PIO, MAURICIO GOMES; SIFFO, SOFIA; SCHEPS, KAREN G.; MOLINA, MARICEL F.; ADROVER, EZEQUIELA; ABELLEYRO, MIGUEL M.; RIVOLTA, CARINA M.; TARGOVNIK, HÉCTOR M.

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms: Computational analysis of TG variants

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2021 vol. 534

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

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 vol. 59 p. 449 - 453

MIGUEL M. ABELLEYRO; CLAUDIA P. RADIC; VANINA D. MARCHIONE; WAISMAN K; TETZLAFF T; NEME D; LILIANA C. ROSSETTI; CARLOS D. DE BRASI

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; Lugar: Nueva Jersey; 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

MIGUEL M. ABELLEYRO; VANINA D. MARCHIONE; LUDMILA ELHELOU; CLAUDIA P. RADIC; LILIANA C. ROSSETTI; DANIELA NEME; CARLOS D. DE BRASI

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 vol. 118 p. 617 - 620

MARCHIONE VD; ZUCCOLI JR; ABELLEYRO MM; RADIC CP; NEME D; CANDELA M; DE TEZANOS PINTO M; DE BRASI CD; ROSSETTI LC

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

HAEMOPHILIA; Lugar: Londres; Año: 2017

MIGUEL M. ABELLEYRO; LILIANA C. ROSSETTI; MARIA DE LOS ANGELES CURTO; CLAUDIA P. RADIC; VANINA D. 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

MARCHIONE VD; RADIC CP; ABELLEYRO MM; PRIMIANI L; NEME D; CANDELA M; DE TEZANOS PINTO M; CARLOS D. DE BRASI; ROSSETTI LC

El polimorfismo CTLA4 p.Thr17Ala (c.49A>G) se asocia con el desarrollo de inhibidor en pacientes argentinos con hemofilia A severa

Hematología; Lugar: CABA; Año: 2016 vol. 20 p. 292 - 297

MIGUEL M. ABELLEYRO; CLAUDIA PAMELA RADIC; TOMAS TETZLAFF; VANINA D. MARCHIONE; ARIELA FUNDIA; IRENE B. LARRIPA; LILIANA CARMEN ROSSETTI; CARLOS DANIEL DE BRASI

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

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

CLAUDIA P. RADIC; LILIANA C. ROSSETTI; MIGUEL M. ABELLEYRO; TOMAS TETZLAFF; MIGUEL CANDELA; G SCIUCCATI; M BONDUEL; E MEDINA-ACOSTA; DANIELA NEME; IRENE B. LARRIPA; TEZANOS PINTO, MIGUEL; CARLOS D. DE BRASI

Phenotype-genotype correlations in hemophilia 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

RADIC, CLAUDIA; ROSSETTI, LILIANA; ABELLEYRO, MIGUEL; CANDELA, MIGUEL; PEREZ BIANCO, RAUL; TEZANOS PINTO, MIGUEL; LARRIPA, IRENE; GOODEVE, ANNE

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

LILIANA CARMEN ROSSETTI; IRUPÉ SZURKALO; CLAUDIA PAMELA RADIC; MIGUEL MARTÍN ABELLEYRO; LAURA PRIMIANI; DANIELA NEME; MIGUEL CANDELA; RAÚL PÉREZ BIANCO; MIGUEL DE TEZANOS PINTO; IRENE BEATRIZ LARRIPA; CARLOS DANIEL DE BRASI

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

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

MIGUEL MARTÍN ABELLEYRO; LILIANA CARMEN ROSSETTI; CLAUDIA PAMELA RADIC; MIGUEL CANDELA; IRENE B. LARRIPA; CARLOS D. 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 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; Lugar: Hoboken; Año: 2009 vol. 29 p. 1183 - 1185