K Frei

Summary

Affiliation: University of Vienna
Country: Austria

Publications

  1. request reprint
    Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet. 2002;10:427-32 pubmed
    ..7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method. ..
  2. request reprint
    Frei K, Ramsebner R, Lucas T, Baumgartner W, Schoefer C, Wachtler F, et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res. 2004;196:115-8 pubmed
    ..Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria. ..
  3. request reprint
    Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner W, et al. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res. 2004;194:81-6 pubmed
    ..Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations. ..

Detail Information

Publications3

  1. request reprint
    Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet. 2002;10:427-32 pubmed
    ..7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method. ..
  2. request reprint
    Frei K, Ramsebner R, Lucas T, Baumgartner W, Schoefer C, Wachtler F, et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res. 2004;196:115-8 pubmed
    ..Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria. ..
  3. request reprint
    Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner W, et al. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res. 2004;194:81-6 pubmed
    ..Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations. ..