Lucas T - Search Results

1

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T. Parzefall T, et al. Among authors: lucas t. Eur Arch Otorhinolaryngol. 2017 Oct;274(10):3619-3625. doi: 10.1007/s00405-017-4699-0. Epub 2017 Aug 18. Eur Arch Otorhinolaryngol. 2017. PMID: 28821934 Free PMC article.

2

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: lucas t. Otol Neurotol. 2013 Jun;34(4):650-6. doi: 10.1097/MAO.0b013e31828d6501. Otol Neurotol. 2013. PMID: 23640091

3

The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.

Koenighofer M, Lucas T, Parzefall T, Ramsebner R, Schoefer C, Frei K. Koenighofer M, et al. Among authors: lucas t. Eur Arch Otorhinolaryngol. 2015 Jan;272(1):229-32. doi: 10.1007/s00405-014-3223-z. Epub 2014 Aug 2. Eur Arch Otorhinolaryngol. 2015. PMID: 25085637

4

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.

Parzefall T, Lucas T, Koenighofer M, Ramsebner R, Frohne A, Czeiger S, Baumgartner WD, Schoefer C, Gstoettner W, Frei K. Parzefall T, et al. Among authors: lucas t. Acta Otolaryngol. 2017 Apr;137(4):356-360. doi: 10.1080/00016489.2016.1249946. Epub 2016 Nov 9. Acta Otolaryngol. 2017. PMID: 27827000

5

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: lucas t. Otol Neurotol. 2017 Feb;38(2):173-179. doi: 10.1097/MAO.0000000000001286. Otol Neurotol. 2017. PMID: 27861301

6

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Gstoettner W, Frei K, Lucas T. Parzefall T, et al. Among authors: lucas t. Wien Klin Wochenschr. 2018 May;130(9-10):299-306. doi: 10.1007/s00508-017-1230-y. Epub 2017 Jul 21. Wien Klin Wochenschr. 2018. PMID: 28733840 Free PMC article.

7

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Frohne A, Koenighofer M, Liu DT, Laccone F, Neesen J, Gstoettner W, Schoefer C, Lucas T, Frei K, Parzefall T. Frohne A, et al. Among authors: lucas t. Otol Neurotol. 2021 Jul 1;42(6):e648-e657. doi: 10.1097/MAO.0000000000003076. Otol Neurotol. 2021. PMID: 33710140

8

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Koenighofer M, Parzefall T, Frohne A, Frei E, Schoefer C, Laccone F, Feil P, Frei K, Lucas T. Koenighofer M, et al. Among authors: lucas t. Clin Otolaryngol. 2021 Sep;46(5):1044-1049. doi: 10.1111/coa.13782. Epub 2021 May 5. Clin Otolaryngol. 2021. PMID: 33851515 Free PMC article.

9

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. Among authors: lucas t. Audiol Neurootol. 2004 Jan-Feb;9(1):47-50. doi: 10.1159/000074186. Audiol Neurootol. 2004. PMID: 14676473

10

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. Among authors: lucas t. Hear Res. 2004 Aug;194(1-2):81-6. doi: 10.1016/j.heares.2004.03.007. Hear Res. 2004. PMID: 15276679

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