Now showing items 1-5 of 5

    • 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
    • BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure 

      Fonseca, Dora Janeth; Ortega-Recalde, Oscar; Esteban-Perez, Clara; Moreno-Ortiz, Harold; Patiño, Liliana Catherine; Bermúdez, Olga María; Ortiz, Angela María; Restrepo, Carlos M.; Lucena, Elkin; Laissue, Paul
      "BMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced ...
       Artículo. 2014
    • Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity 

      Yupanqui-Lozno, Hernan; Bastarrachea, Raul A.; Yupanqui-Velazco, Maria E.; Alvarez-Jaramillo, Monica; Medina-Méndez, Esteban; Giraldo-Peña, Aida P.; Arias-Serrano, Alexandra; Torres-Forero, Carolina; Garcia-Ordoñez, Angelica M.; Mastronardi, Claudio A.; Restrepo, Carlos M.; Rodriguez-Ayala, Ernesto; Nava-Gonzalez, Edna J.; Arcos-Burgos, Mauricio; Kent, Jack W.; Cole, Shelley A.; Licinio, Julio; Celis-Regalado, Luis G.
      "Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These ...
       Artículo. 2019
    • 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