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; Lugar: Osney Mead, Oxford; 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

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

ABELLEYRO M.M.; MARCHIONE V.D.; PALMITELLI M.; RADIC C.P.; NEME D.; LARRIPA I.B.; MEDINA-ACOSTA E.; DE BRASI C.D.; ROSSETTI L.C.

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

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

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; Lugar: Stuttgart; Año: 2018 vol. 118 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; Lugar: Oxford; Año: 2017 vol. 23 p. 166 - 169

ABELLEYRO M.M.; ROSSETTI L.C.; CURTO M.A.; RADIC C.P.; MARCHIONE V.D.; DE BRASI C.D.

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 M.M.; RADIC C.P.; TETZLAFF T.; MARCHIONE V.D.; FUNDIA A.F.; LARRIPA I.B.; ROSSETTI L.C.; DE BRASI C.D.

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

HAEMOPHILIA; Lugar: Osney Mead, Oxford, UK; Año: 2015 vol. 21 p. 247 - 251

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.; DE TEZANOS PINTO, M.; DE BRASI C.D.

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

CITTERIO C.E.; ROSSETTI L.C.; SOUCHON P.F.; MORALES C.; THOUVARD-VIPREY M.; SALMON-MUSIAL A.S.; MAURAN P.; DOCO-FENZY M.; GONZÁLEZ-SARMIENTO R.; RIVOLTA C.; DE BRASI C.D.; TARGOVNIK H.M.

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

ROSSETTI L.C.; SZURKALO I.; RADIC C.P.; ABELLEYRO M.M.; PRIMIANI L.; NEME D.; CANDELA M.; PEREZ BIANCO R.; DE TEZANOS PINTO, M.; LARRIPA I.B.; DE BRASI C.D.

Factor VIII genotype characterization 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

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

Assesment 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

ABELLEYRO M.M.; ROSSETTI L C; RADIC C.P.; CANDELA M,; LARRIPA I.B.; DE BRASI CD

Are int22h mediated deletions a common cause of hemophilia?

ANNALS OF HEMATOLOGY; Lugar: Berlin; Año: 2012 vol. 91 p. 633 - 666

ROSSETTI L C; RADIC C.P.; ABELLEYRO M.M.; LARRIPA I.B.; 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

MACHADO F.B.; ALVES DA SILVA A.F.; ROSSETTI L.C.; DE BRASI C.D.; MEDINA-ACOSTA E.

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

HAEMOPHILIA; Año: 2010 vol. 17 p. 257 - 266

RADIC C.P.; ROSSETTI L.C.; ZUCCOLI J.R.; ABELLEYRO M.M.; LARRIPA I.B.; DE BRASI C.D.

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

ROSSETTI L.C.; RADIC C. P.; LARRIPA I.B.; DE BRASI C.D.

Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor 8 gene.

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

LILIANA C. ROSSETTI, CLAUDIA PAMELA RADIC, MIGUEL CANDELA, RAÚL PÉREZ BIANCO, MIGUEL DE TEZANOS PINTO, ANNE GOODEVE, IRENE B. LARRIPA, CARLOS D. DE BRASI.

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 L.C.; RADIC C. P.; LARRIPA I.B.; DE BRASI C.D.

Genotyping the Hemophilia Inversion Hotspot by use of Inverse PCR.

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

GALLEGO M; ZELAYA G; FELIU A; ROSSETTI L.C.; SHAFFER L; BAILEY K; BACINO C; BARREIRO C

Atr-16 due to a de novo complex rearrangement of chromosome 16

HEMOGLOBIN; Lugar: Philadelphia. USA.; Año: 2005 vol. 29 p. 141 - 150

ROSSETTI L.C.; TARGOVNIK HM; VARELA V

The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin

HAEMATOLOGICA; Lugar: Pavia, Italia; Año: 2004 vol. 89 p. 746 - 747

ROSSETTI L.C.; GOODEVE A; LARRIPA I.B.; DE BRASI C.D.

Homeologous recombination between AluSx-sequences as a cause of hemophilia

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

ROSSETTI L.C.; CANDELA, M.; PEREZ BIANCO, R.; DE TEZANOS PINTO, M.; WESTERN A.; GOODEVE A; LARRIPA I.B.; DE BRASI C.D.

Analysis of factor VIII gene intron 1 inversion in Argentinean 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

DE BRASI C.D.; ROSSETTI L.C.; LARRIPA I.B.

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

VARELA V; ROSSETTI L.C.; BINAGHI A.; TARGOVNIK H.M.; ABREU, M.S.

Genética molecular de las talasemias en Argentina.

Sangre; Lugar: Barcelona, España; Año: 1999 vol. 44 p. 210 - 215

MENDIVE F.M.; ROSSETTI L.C.; VASSART G.; TARGOVNIK H.M.

Identification of New Thyroglobulin Variant: A Guanine to Adenine Transition.Resulting in the sustitution of Arginine 2510 by Glutamine.

THYROID; Lugar: USA; Año: 1997 vol. 7 p. 587 - 591

VARELA V.; ABREU S.; ROSSETTI L.C.; TARGOVNIK H.M.

Mutaciones beta-talasémicas más frecuentes en la población argentina.

Sangre; Lugar: Barcelona, España.; Año: 1996 vol. 41 p. 137 - 140