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PRODUCCION CIENTÍFICO TECNOLÓGICA
Mostrando ítems 1-20 de 21
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Artículo
A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A
Marchione, Vanina Daniela
;
Zuccoli, Johanna Romina
;
Abelleyro, Miguel Martin
;
Radic, Claudia Pamela
;
Neme, D.
;
Candela, M.
;
de Tezanos Pinto, M.
;
de Brasi, Carlos Daniel
;
Rossetti, Liliana Carmen
(
World Federation of Hemophilia
,
2017-03
)
Evento
A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman
Luce, Leonela Natalia
;
Carcione, María Micaela
;
Mazzanti, Chiara
;
Szijan, Irena
;
Menazzi, Sebastián
;
Francipane, Liliana
;
Nevado, Julián
;
Lapunzina, Pablo
;
Rossetti, Liliana Carmen
;
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
de Brasi, Carlos Daniel
;
Giliberto, Florencia
-
Otros responsables:
Oldfors, A.
-
(
Elsevier Inc
,
2019
)
Artículo
Analysis of complex structural variants in the DMD gene in one family
Luce, Leonela Natalia
;
Abelleyro, Miguel Martin
;
Carcione, María Micaela
;
Mazzanti, Chiara
;
Rossetti, Liliana Carmen
;
Radic, Claudia Pamela
;
Szijan, Irene
;
Menazzi, Sebastian
;
Francipane, Liliana
;
Nevado, Julian
;
Lapunzina, Pablo
;
de Brasi, Carlos Daniel
;
Giliberto, Florencia
(
Pergamon-Elsevier Science Ltd
,
2021-03
)
Evento
Analysis of novel thyroid peroxidase gene variants from the gnomad database using in silico bioinformatics algorithms and literature review
Molina, Maricel Fernanda
;
Gomes Pio, Mauricio
;
Scheps, Karen
;
Adrover, Ezequiela
;
Abelleyro, Miguel Martin
;
Targovnik, Hector Manuel
;
Rivolta, Carina Marcela
(
Fundación Revista Medicina
,
2022
)
Artículo
Are int22h-mediated deletions a common cause of hemophilia?
Abelleyro, Miguel Martin
;
Rossetti, Liliana Carmen
;
Radic, Claudia Pamela
;
Candela, Miguel
;
Larripa, Irene Beatriz
;
de Brasi, Carlos Daniel
(
Springer
,
2012-04
)
Artículo
Assessment of interleukin-10 promoter variant (−1082A/G) and cytokine production in patients with hemolytic uremic syndrome
Mongelos, Micaela Aldana
;
Sosa, Fernando Nicolás
;
Pineda, Gonzalo Ezequiel
;
Fiorentino, Gabriela Alejandra
;
Santiago, Adriana
;
Abelleyro, Miguel Martin
;
Rossetti, Liliana Carmen
;
Exeni, Ramón Alfonso
;
de Brasi, Carlos Daniel
;
Palermo, Marina Sandra
;
Ramos, Maria Victoria
(
Frontiers Media
,
2023-06
)
Artículo
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
Radic, Claudia Pamela
;
Rossetti, Liliana Carmen
;
Abelleyro, Miguel Martin
;
Candela, Miguel
;
Pérez Bianco, Raúl
;
de Tezanos Pinto, Miguel
;
Larripa, Irene Beatriz
;
Goodeve, Anne
;
de Brasi, Carlos Daniel
(
Schattauer Gmbh-Verlag Medizin Naturwissenschaften
,
2013-01
)
Artículo
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
Gomes Pio, Mauricio
;
Siffo, Sofía
;
Scheps, Karen
;
Molina, Maricel Fernanda
;
Adrover, Ezequiela
;
Abelleyro, Miguel Martin
;
Rivolta, Carina Marcela
;
Targovnik, Hector Manuel
(
Elsevier Ireland
,
2021-08
)
Artículo
Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: Proof of concept
Gutierrez, Leandro German
;
Abelleyro, Miguel Martin
;
Ruiz, María Sol
;
Anchordoqui, María Sol
;
Freitas, Josefina
;
Bianchini, Michele
;
de Brasi, Carlos Daniel
;
Larripa, Irene Beatriz
(
De Gruyter
,
2021-06
)
Evento
Dystrophinopathy patients with non-contiguous molecular alterations: Diagnosis and characterization of the genetic mechanisms involved
Luce, Leonela Natalia
;
Carcione, María Micaela
;
Mazzanti, Chiara
;
Szijan, Irena
;
Menazzi, Sebastian
;
Francipane, Liliana
;
Nevado, Julian
;
Lapunzina, Pablo
;
Rossetti, Liliana Carmen
;
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
de Brasi, Carlos Daniel
;
Giliberto, Florencia
(
Nature Publishing Group
,
2020
)
Artículo
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
Rossetti, Liliana Carmen
;
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
Larripa, Irene Beatriz
;
de Brasi, Carlos Daniel
(
Molecular Diversity Preservation International
,
2011-10
)
Artículo
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications
Abelleyro, Miguel Martin
;
Rossetti, Liliana Carmen
;
Curto, Maria de Los Angeles
;
Radic, Claudia Pamela
;
Marchione, Vanina Daniela
;
de Brasi, Carlos Daniel
(
Schattauer Gmbh-Verlag Medizin Naturwissenschaften
,
2015-10
)
Artículo
Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: A comprehensive Argentine study of inhibitor risks
Rossetti, Liliana Carmen
;
Szurkalo, Irupé
;
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
Primiani, Laura
;
Neme, Daniela
;
Miguel, Candela
;
Pérez Bianco, Raúl
;
De Tezanos Pinto, Miguel
;
Larripa, Irene Beatriz
;
de Brasi, Carlos Daniel
(
Wiley Blackwell Publishing, Inc
,
2013-07
)
Artículo
Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
Ziegler, Betiana Michelle
;
Marchione, Vanina Daniela
;
Nevado, Julián
;
Lapunzina, Pablo
;
Sciuccati, Gabriela
;
Neme, Daniela
;
Rossetti, Liliana Carmen
;
Bonduel, Mariana
;
de Brasi, Carlos Daniel
(
John Wiley & Sons
,
2023-05
)
Artículo
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia
Abelleyro, Miguel Martin
;
Marchione, Vanina Daniela
;
Palmitelli, Micaela
;
Radic, Claudia Pamela
;
Neme, Daniela
;
Larripa, Irene Beatriz
;
Medina Acosta, Enrique
;
de Brasi, Carlos Daniel
;
Rossetti, Liliana Carmen
(
Nature Publishing Group
,
2019-01
)
Artículo
Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
Radic, Claudia Pamela
;
Rossetti, Liliana Carmen
;
Zuccoli, Johanna Romina
;
Abelleyro, Miguel Martin
;
Larripa, Irene Beatriz
;
de Brasi, Carlos Daniel
(
John Wiley & Sons Ltd
,
2009-12
)
Artículo
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
Abelleyro, Miguel Martin
;
Radic, Claudia Pamela
;
Marchione, Vanina Daniela
;
Waisman, Karen
;
Tetzlaff, Guillermo Tomás
;
Neme, Daniela
;
Rossetti, Liliana Carmen
;
de Brasi, Carlos Daniel
(
Wiley-liss, div John Wiley & Sons Inc.
,
2020-01-04
)
Artículo
Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation
Radic, Claudia Pamela
;
Rossetti, Liliana Carmen
;
Abelleyro, Miguel Martin
;
Tetzlaff, T.
;
Candela, M.
;
Neme, D.
;
Sciuccati, G.
;
Bonduel, M.
;
Medina Acosta, E.
;
Larripa, Irene Beatriz
;
De Tezanos Pinto, M.
;
de Brasi, Carlos Daniel
(
Wiley Blackwell Publishing, Inc
,
2015-04
)
Artículo
El polimorfismo CTLA4 p.Thr17Ala (c.49A>G) se asocia con el desarrollo de inhibidor en pacientes argentinos con hemofilia A severa
Marchione, Vanina Daniela
;
Radic, Claudia Pamela
;
Abelleyro, Miguel Martin
;
Primiani, L.
;
Neme, D.
;
Candela, M.
;
de Tezanos Pinto, M.
;
de Brasi, Carlos Daniel
;
Rossetti, Liliana Carmen
(
Sociedad Argentina de Hematología
,
2016-12
)
Artículo
Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR
Abelleyro, Miguel Martin
;
Radic, Claudia Pamela
;
Tetzlaff, Guillermo Tomás
;
Marchione, Vanina Daniela
;
Fundia, Ariela Freya
;
Larripa, Irene Beatriz
;
Rossetti, Liliana Carmen
;
de Brasi, Carlos Daniel
(
Wiley Blackwell Publishing, Inc
,
2015-03
)
Mostrando ítems 1-20 de 21
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