Browsing by Author "Restrepo, Carlos M."

Now showing items 1-3 of 3

    • A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy 

      Tamar Silva, Claudia; Zorkoltseva, Irina V.; Niemeijer, Maartje N.; van den Berg, Marten E.; Amin, Najaf; Demirkan, Ayşe; Leeuwen, Elisa van; Iglesias, Adriana I.; Piñeros-Hernández, Laura B.; Restrepo, Carlos M.; Kors, Jan A.; Kirichenko, Anatoly V.; Willemsen, Rob; Oostra, Ben A.; Stricker, Bruno H.; Uitterlinden, André G.; Axenovich, Tatiana I.; Duijn, Cornelia M. van; Isaacs, Aaron
      Background: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...
       Artículo. 2018

    • Identification of clinically relevant phenotypes in patients with Ebstein anomaly 

      Cabrera, Rodrigo; Miranda-Fernández, Marta-Catalina; Huertas Quiñones, Victor Manuel; Carreño, Marisol; Pineda, Ivonne; Restrepo, Carlos M.; Silva, Claudia Tamar; Quero, Rossi; Cano, Juan David; Cabrera, Rodrigo; Miranda-Fernández, Marta-Catalina; Huertas Quiñones, Victor Manuel; Carreño, Marisol; Pineda, Ivonne; Restrepo, Carlos M.; Silva, Claudia Tamar; Quero, Rossi; Cano, Juan David; Manrique, Diana Carolina; Camacho, Camila; Tabares, Sebastián; García, Alberto; Sandoval, Néstor; Moreno-Medina, Karen; Dennis Verano, Rodolfo José
      Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. Hypothesis: ...
       Artículo. 2018

    • Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 

      Ortega-Recalde, Oscar-Javier; Ine´s Vergara, Jéssica; Fonseca-Mendoza, Dora Janeth; Ríos, Xiomara; Mosquera, Hernando; Bermúdez, Olga; Medina, Claudia Liliana; Vargas, Clara; Pallares, Argemiro Enrique; Restrepo, Carlos Martín; Laissue, Paul
      Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected ...
       Artículo. 2013

       

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