A R Janecke

Summary

Affiliation: University of Innsbruck
Country: Austria

Publications

  1. Janecke A, Bosshard N, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, et al. Molecular diagnosis of type 1c glycogen storage disease. Hum Genet. 1999;104:275-7 pubmed
    ....
  2. Janecke A, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet. 2000;107:285-9 pubmed
    ..Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients. ..
  3. Janecke A, Nekahm D, Löffler J, Hirst Stadlmann A, Muller T, Utermann G. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. Hum Genet. 2001;108:269-70 pubmed
    ..This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case. ..

Locale

Detail Information

Publications3

  1. Janecke A, Bosshard N, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, et al. Molecular diagnosis of type 1c glycogen storage disease. Hum Genet. 1999;104:275-7 pubmed
    ....
  2. Janecke A, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet. 2000;107:285-9 pubmed
    ..Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients. ..
  3. Janecke A, Nekahm D, Löffler J, Hirst Stadlmann A, Muller T, Utermann G. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. Hum Genet. 2001;108:269-70 pubmed
    ..This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case. ..