Search Results - "Kirschhofer, Karin"

GJB2 Mutations in Hearing Impairment: Identification of a Broad Clinical Spectrum for Improved Genetic Counseling by Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Hamader, Gertrude, Szuhai, Károly, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J., Kirschhofer, Karin

“…Objectives/Hypothesis: Hearing impairment has a high prevalence affecting approximately 1 in 1000 newborn children. Alterations in the gap junction protein…”
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Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment by Verhoeven, Kristien, Laer, Lut Van, Kirschhofer, Karin, Legan, P. Kevin, Hughes, David C, Schatteman, Isabelle, Verstreken, Margriet, Hauwe, Peter Van, Coucke, Paul, Chen, Achih, Smith, Richard J.H, Somers, Thomas, Offeciers, F. Erwin, Heyning, Paul Van de, Richardson, Guy P, Wachtler, Franz, Kimberling, William J, Willems, Patrick J, Govaerts, Paul J, Camp, Guy Van

“…The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces…”
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Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria by Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

“…OBJECTIVE:: To analyze the prevalence and importance of the maternally inherited A1555G mutation in the 12S rRNA gene in the Austrian population. STUDY…”
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Connexin 26 mutations in cases of sensorineural deafness in eastern Austria by Frei, Klemens, Szuhai, Károly, Lucas, Trevor, Weipoltshammer, Klara, Schöfer, Christian, Ramsebner, Reinhard, Baumgartner, Wolf-Dieter, Raap, Anton K, Bittner, Reginald, Wachtler, Franz J, Kirschhofer, Karin

“…Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with autosomal nonsyndromic sensorineural hearing loss. This study describes mutations in the…”
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Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria by Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

“…To analyze the prevalence and importance of the maternally inherited A1555G mutation in the 12S rRNA gene in the Austrian population. Investigation for…”
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High Incidence of GJB2 Mutations During Screening of Newborns for Hearing Loss in Austria by Ramsebner, Reinhard, Volker, Romana, Lucas, Trevor, Hamader, Gertrude, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

“…OBJECTIVES:The aim of the present study was to evaluate gap junction protein β2 (GJB2) genetic testing within a national neonate screening program for hearing…”
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Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria by Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Baumgartner, Wolf-Dieter, Schoefer, Christian, Wachtler, Franz J., Kirschhofer, Karin

“…Genetically caused congenital deafness is a common trait affecting 1 in 2000 newborn children and is predominantly inherited in an autosomal recessive fashion…”
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Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria by Frei, Klemens, Ramsebner, Reinhard, Hamader, Gertrude, Lucas, Trevor, Schoefer, Christian, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin

“…Mutations in the gap junction protein beta 3 (GJB3) gene encoding Connexin 31 (Cx31) are known to cause autosomal inherited sensorineural deafness,…”
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A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness by Frei, Klemens, Lucas, Trevor, Ramsebner, Reinhard, Schöfer, Christian, Baumgartner, Wolf-Dieter, Weipoltshammer, Klara, Erginel-Unaltuna, Nihan, Wachtler, Franz J, Kirschhofer, Karin

“…Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We…”
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Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family by Kirschhofer, K, Kenyon, J B, Hoover, D M, Franz, P, Weipoltshammer, K, Wachtler, F, Kimberling, W J

“…A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing loss was found in a rural region of Austria…”
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