Abelleyro, Miguel Martin

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-20 de 21

Página siguiente

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

Página siguiente