Publicaciones

  • Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms

    María Noel Spangenberg
    Abstract

  • Transcriptome-Wide Analysis of microRNA-mRNA Correlations in Tissue Identifies microRNA Targeting Determinants

    Juan Manuel Trinidad-Barnech
    Abstract

  • Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

    Víctor Raggio
    Abstract

  • Fibrodysplasia ossificans progressiva in a 3-year-old female patient

    Cecilia Moreira
    Abstract

  • Transcriptomic analysis of the adaptation to prolonged starvation of the insect-dwelling Trypanosoma cruzi epimastigotes

    Pablo Smircich
    Abstract

  • Oxytocin system polymorphisms rs237887 and rs2740210 variants increase the risk of depression in pregnant women with early abuse

    Daniel Ernesto Olazábal
    Abstract

  • X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease

    Thiago P Leal
    Abstract

  • Insights into the Y chromosome human diversity in Uruguay

    Patricia Mut
    Abstract

  • Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation

    María Noel Spangenberg
    Abstract

  • Mitofusin 1 silencing decreases the senescent associated secretory phenotype, promotes immune cell recruitment and delays melanoma tumor growth after chemotherapy

    Doménica Tarallo
    Abstract

  • Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia

    Víctor Raggio
    Abstract

  • Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

    Federico Baltar
    Abstract

  • Evolutionary analysis of species-specific duplications in flatworm genomes

    Mauricio Langleib
    Abstract

  • Parkinson's Disease Gene Screening in Familial Cases from Central and South America

    Oswaldo Lorenzo-Betancor
    Abstract

  • Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

    Victor Borda
    Abstract

  • Multi-Omics Study Reveals Nc886/vtRNA2-1 as a Positive Regulator of Prostate Cancer Cell Immunity

    Carolina Oliveira-Rizzo
    Abstract

  • Purification and transcriptomic characterization of proliferative cells of Mesocestoides corti selectively affected by irradiation

    Alicia Costábile
    Abstract

  • A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches

    Matias Rolando
    Abstract

  • Global DNA methylation and its association with genetic instability and exposure to inorganic elements and polycyclic aromatic hydrocarbons in coal mining dust

    Grethel León-Mejía
    Abstract

  • Cost-effective promoter methylation analysis via target long-read bisulfite sequencing: a case study in severe preterm birth

    Silvana Pereyra
    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.