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

Collaborators

Detail Information

Publications4

  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...