Marta L Tamayo

Summary

Affiliation: Pontificia Universidad Javeriana
Country: Colombia

Publications

  1. doi request reprint The importance of fundus eye testing in rubella-induced deafness
    Marta L Tamayo
    Instituto de Genetica Humana, Pontificia Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 77:1536-40. 2013
  2. doi request reprint Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability
    Marta L Tamayo
    Instituto de Genetica Humana, Facultad de Medicina, Universidad Javeriana, Bogota, Colombia
    Am J Med Genet A 146:1026-31. 2008
  3. ncbi request reprint Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families
    M L Tamayo
    Instituto de Genetica Humana, Universidad Javeriana, Bogota, Colombia
    Genet Couns 19:15-27. 2008
  4. doi request reprint Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program
    M L Tamayo
    Instituto de Genetica Humana, Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 73:97-101. 2009
  5. doi request reprint [Phenotypic and molecular characterization of a Colombian family with phenylketonuria]
    Nancy Gelvez
    Instituto de Genetica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, D C, Colombia
    Biomedica 36:390-396. 2016
  6. doi request reprint Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: a retrospective study
    Jorge A Rojas
    Instituto de Genetica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 78:1752-5. 2014

Collaborators

  • J E Bernal
  • Ignacio Zarante
  • Nancy Gelvez
  • Jorge A Rojas
  • Martha Bermudez
  • Derly Castro
  • Greizy López
  • Johana Acosta
  • Juan Carlos Prieto
  • Constanza Bernal
  • Mary A García
  • Natalia Ramirez

Detail Information

Publications6

  1. doi request reprint The importance of fundus eye testing in rubella-induced deafness
    Marta L Tamayo
    Instituto de Genetica Humana, Pontificia Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 77:1536-40. 2013
    ..The purpose of this study was to establish a new approach to improve detection of deafness due to rubella...
  2. doi request reprint Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability
    Marta L Tamayo
    Instituto de Genetica Humana, Facultad de Medicina, Universidad Javeriana, Bogota, Colombia
    Am J Med Genet A 146:1026-31. 2008
    ..Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression...
  3. ncbi request reprint Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families
    M L Tamayo
    Instituto de Genetica Humana, Universidad Javeriana, Bogota, Colombia
    Genet Couns 19:15-27. 2008
    ..We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families...
  4. doi request reprint Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program
    M L Tamayo
    Instituto de Genetica Humana, Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 73:97-101. 2009
    ..We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia...
  5. doi request reprint [Phenotypic and molecular characterization of a Colombian family with phenylketonuria]
    Nancy Gelvez
    Instituto de Genetica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, D C, Colombia
    Biomedica 36:390-396. 2016
    ..Conclusions: Early recognition of this disease is very important to prevent its neurological and psychological sequelae, given that patients reach old age without diagnosis or proper management...
  6. doi request reprint Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: a retrospective study
    Jorge A Rojas
    Instituto de Genetica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia
    Int J Pediatr Otorhinolaryngol 78:1752-5. 2014
    ..The aim of this study was to investigate the characteristics and performance of transient evoked oto-acoustic emission (TEOAE) hearing screening in newborns in Colombia, and analyze all possible variables and factors affecting the results...