A R Janecke
Affiliation: University of Innsbruck
Janecke A, Hennies H, Günther B, Gansl G, Smolle J, Messmer E, et al
. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A. 2005;133A:128-31 pubmed
..This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in GJB2. ..
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
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. ..
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. ..