Abelleyro Miguel M - Experimental Medicine and Biology Institute

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论文共 19 篇作者统计合作学者相似作者

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Comprehensive Genomic Filtering Algorithm to Expose the Cause of Skewed X Chromosome Inactivation. the Proof of Concept in Female Haemophilia Expression

Betiana Michelle Ziegler,Miguel Martin Abelleyro,Vanina Daniela Marchione, Nicolas Lazarte, Martin Manuel Ledesma,Ludmila Elhelou,Daniela Neme,Liliana Carmen Rossetti,Enrique Medina-Acosta,Florencia Giliberto,Carlos De Brasi,Claudia Pamela Radic

JOURNAL OF MEDICAL GENETICSno. 8 (2024): 769-776

引用0浏览0WOS引用

Haemophilia B, Severe Childhood Obesity and Other Extra‐haematological Features Associated with Similar 4mb‐deletions on Xq27: Clinical Findings, Molecular Insights and Literature Update

Claudia P. Radic,Miguel M. Abelleyro,Betiana Ziegler,Vanina D. Marchione,Julian Nevado,Pablo Lapunzina,Gabriela Sciuccati,Daniela Neme,Liliana C. Rossetti,Mariana Bonduel,Carlos D. De Brasi

Haemophilia（2023）

引用0浏览0WOS引用

Assessment of Interleukin-10 Promoter Variant (-1082A/G) and Cytokine Production in Patients with Hemolytic Uremic Syndrome

Micaela Aldana Mongelos, Fernando Nicolas Sosa,Gonzalo Ezequiel Pineda,Gabriela Fiorentino,Adriana Santiago,Miguel Martin Abelleyro,Liliana Carmen Rossetti,Ramon Exeni,Carlos Daniel De Brasi,Marina Sandra Palermo,Maria Victoria Ramos

Frontiers in pediatrics (2023)

引用1浏览0WOS引用

Development of an Inverse-Pcr Approach for Characterization of the Major BCR-ABL1 Breakpoint Sequences on Genomic DNA: Proof of Concept

Leandro G Gutiérrez,Miguel M Abelleyro,María Sol Ruiz, María Sol Anchordoqui,Josefina Freitas,Michele Bianchini,Carlos D De Brasi,Irene B Larripa

Clinical Chemistry and Laboratory Medicine (CCLM)（2021）

引用1浏览0WOS引用

Syndromic Cases of Hemophilia B and Morbid Obesity Due to Contiguous Gene Deletions on Xq26.3-q27.2: Unsuspected Phenotype-Genotype Associations by Bioinformatics and Extensive Clinical Data Mining

Pamela Radic,Miguel Abelleyro,Betiana Ziegler,Vanina Marchione,Julian Nevado,Pablo Lapunzina,Gabriela Sciuccati,Daniela Neme,Liliana Rossetti,Mariana Bonduel,Carlos De Brasi

semanticscholar（2020）

引用0浏览0引用

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

Miguel Martin Abelleyro,Claudia Pamela Radic,Vanina Daniela Marchione, Karen Waisman,Tomas Tetzlaff,Daniela Neme,Liliana Carmen Rossetti,Carlos Daniel De Brasi

Human mutation（2020）

引用7浏览0WOS引用

A multi-technique molecular analysis of a dmd family with two independent mutational events and a manifesting pregnant woman. bioinformatic analysis of molecular scars at breakpoint junctions and hypothesization of the underlying molecular mechanisms

Leonela Luce,Miguel Abelleyro,Micaela Carcione,Chiara Mazzanti,Liliana Rossetti,Pamela Radic,Irene Szijan, Sebasti n Menazzi,Liliana Francipane, Juli n Nevado,Pablo Lapunzina,Carlos De Brasi,Florencia Giliberto

semanticscholar（2020）

引用0浏览0引用

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

Miguel Martín Abelleyro,Vanina Daniela Marchione,Micaela Palmitelli,Claudia Pamela Radic,Daniela Neme,Irene Beatriz Larripa,Enrique Medina-Acosta,Carlos Daniel De Brasi,Liliana Carmen Rossetti

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

引用4浏览0WOSNATURE引用

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

M M Abelleyro,V D Marchione, L Elhelou,C P Radic,L C Rossetti,D Neme,C D De Brasi

THROMBOSIS AND HAEMOSTASIS（2018）

引用3浏览0WOS引用

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

Vanina Daniela Marchione,Johanna Romina Zuccoli,M. M. Abelleyro,Claudia Pamela Radic,D. Neme,Miguel Candela,M. de Tezanos Pinto,Carlos D. De Brasi,Liliana C. Rossetti

HAEMOPHILIA（2017）

引用6浏览0WOS引用

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