Publicaciones

  • Discovery of novel DNA methylation biomarkers for non-invasive sporadic breast cancer detection in the Latino population

    Mónica Cappetta, Lucía Fernandez, Lucía Brignoni, Nora Artagaveytia, Carolina Bonilla, Miguel López, Manel Esteller, Bernardo Bertoni, María Berdasco
    Abstract

  • Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

    Elif Irem Sarihan, Eduardo Pérez-Palma, Lisa-Marie Niestroj, Douglas Loesch, Miguel Inca-Martinez, Andrea R V R Horimoto, Mario Cornejo-Olivas, Luis Torres, Pilar Mazzetti, Carlos Cosentino, Elison Sarapura-Castro, Andrea Rivera-Valdivia, Elena Dieguez,…
    Abstract

  • Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer

    Carolina Bonilla, Bernardo Bertoni, Josine L Min, Gibran Hemani, Genetics of DNA Methylation Consortium, Hannah R Elliott
    Abstract

  • Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia

    Gabriela Burgueño-Rodríguez, Yessika Méndez, Natalia Olano, Agustín Dabezies, Bernardo Bertoni, Jorge Souto, Luis Castillo, Julio da Luz, Ana María Soler
    Abstract

  • Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

    Lucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, Susana Vivas, Soledad Rodríguez, Martín Graña, Hugo Naya, Víctor Raggio
    Abstract

  • Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

    Víctor Raggio, Nicolas Dell'Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin,…
    Abstract

  • Lost and Found: Piwi and Argonaute Pathways in Flatworms

    Santiago Fontenla, Gabriel Rinaldi, Jose F Tort
    Abstract

  • Characterizing the Genetic Architecture of Parkinson's Disease in Latinos

    Douglas P Loesch
    Abstract

  • CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin

    Emily Jane Meyer
    Abstract

  • Pan-cancer chromatin analysis of the human vtRNA genes uncovers their association with cancer biology

    Rafael Sebastián Fort
    Abstract

  • Extensive Translational Regulation through the Proliferative Transition of Trypanosoma cruzi Revealed by Multi-Omics

    Santiago Chávez
    Abstract

  • Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease

    Martina Alonso
    Abstract

  • Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas

    Ana Cecília Guimarães Alves
    Abstract

  • Hsa-miR-183-5p Modulates Cell Adhesion by Repression of ITGB1 Expression in Prostate Cancer

    Carolina Oliveira-Rizzo
    Abstract

  • Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants

    Cecilia Castillo
    Abstract

  • Cell repertoire and proliferation of germinative cells of the model cestode Mesocestoides corti

    María Fernanda Domínguez
    Abstract

  • Current Status of Regulatory Non-Coding RNAs Research in the Tritryp

    Rafael Sebastián Fort
    Abstract

  • Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort

    Douglas P Loesch
    Abstract

  • Using telomeric length measurements and methylation to understand the karyotype diversification of Ctenomys minutus (a small fossorial mammal)

    C A Matzenbacher
    Abstract

  • Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

    Camila Simoes
    Abstract

Departamento de Genética. Facultad de Medicina - Universidad de la República 
Avenida General Flores 2125 C.P. 11800 Montevideo - Uruguay 
Tel.: (+598) 2924 3414 Interno 3469.