Frei K - Search Results

1

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: frei k. Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708. Hum Mutat. 2008. PMID: 18381613

2

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: frei k. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.

3

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.

Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K. Ramsebner R, et al. Among authors: frei k. Otol Neurotol. 2013 Jun;34(4):650-6. doi: 10.1097/MAO.0b013e31828d6501. Otol Neurotol. 2013. PMID: 23640091

4

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.

Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, Baumgartner WD, Raap AK, Bittner R, Wachtler FJ, Kirschhofer K. Frei K, et al. Eur J Hum Genet. 2002 Jul;10(7):427-32. doi: 10.1038/sj.ejhg.5200826. Eur J Hum Genet. 2002. PMID: 12107817

5

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Laryngoscope. 2005 Mar;115(3):461-5. doi: 10.1097/01.mlg.0000157855.47143.71. Laryngoscope. 2005. PMID: 15744158

6

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

Wolf A, Frohne A, Allen M, Parzefall T, Koenighofer M, Schreiner MM, Schoefer C, Frei K, Lucas T. Wolf A, et al. Among authors: frei k. Otol Neurotol. 2017 Feb;38(2):173-179. doi: 10.1097/MAO.0000000000001286. Otol Neurotol. 2017. PMID: 27861301

7

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K. Ramsebner R, et al. Among authors: frei k. Laryngoscope. 2010 Feb;120(2):359-64. doi: 10.1002/lary.20689. Laryngoscope. 2010. PMID: 19950373

8

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.

Frei K, Lucas T, Ramsebner R, Schöfer C, Baumgartner WD, Weipoltshammer K, Erginel-Unaltuna N, Wachtler FJ, Kirschhofer K. Frei K, et al. Audiol Neurootol. 2004 Jan-Feb;9(1):47-50. doi: 10.1159/000074186. Audiol Neurootol. 2004. PMID: 14676473

9

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.

Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Hear Res. 2004 Aug;194(1-2):81-6. doi: 10.1016/j.heares.2004.03.007. Hear Res. 2004. PMID: 15276679

10

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K. Frei K, et al. Hear Res. 2004 Oct;196(1-2):115-8. doi: 10.1016/j.heares.2004.07.001. Hear Res. 2004. PMID: 15464308

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