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Publications

Dieser Inhalt ist nur auf Englisch verfügbar.
  • Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstoettner W, Frei K, Lucas T. (2020). A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. Front Cell Neurosci. 14:585669.
  • Frohne A, Koenighofer M, Liu DT, Laccone F, Neesen J, Gstoettner W, Schoefer C, Lucas T, Frei K, Parzefall T. (2020). High prevalence of MYO6 variants in an Austrian patient cohort with autosomal dominant hereditary hearing loss. Otol Neurotol. (in press).
  • Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Gstoettner W, Frei K, Lucas T. (2018). 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. Wien Klin Wochenschr. 130:299-306.
  • Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T. (2017). Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation. Eur Arch Otorhinolaryngol. 274:3619-3625.
  • Wolf A, Frohne A, Allen M, Parzefall T, Koenighofer M, Schreiner MM, Schoefer C, Frei K, Lucas T. (2017). A novel mutation in SLC26A4 causes nonsyndromic autosomal recessive hearing impairment. Otol Neurotol. 38:173-179.
  • Parzefall T, Lucas T, Koenighofer M, Ramsebner R, Frohne A, Czeiger S, Baumgartner WD, Schoefer C, Gstoettner W, Frei K. (2017). The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria. Acta Otolaryngol. 137(4):356-360.
  • Koenighofer M, Parzefall T, Frohne A, Frei E, Schoefer C, Laccone F, Feil P, Frei K, Lucas T. (2021). Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma. Clin Otolaryngol. (in press).
  • Kotowski U, Kadletz L, Schneider S, Oberndorfer F, Schnoell J, Gurnhofer E, Kenner L, Lucas T, Heiduschka G. (2019). Overexpression of LAPTM4B-35 is a negative prognostic factor in head and neck squamous cell carcinoma. Sci Rep. 9:18866.
  • Lucas T, Abraham D, Untergasser G, Zins K, Hofer E, Gunsilius E, Aharinejad S. (2009). Adenoviral-mediated endothelial precursor cell delivery of soluble CD115 suppresses human prostate cancer xenograft growth in mice. Stem Cells. 27:2342-2352.
  • Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T. (2021). A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity. Exp Eye Res. (in press).
  • Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K. (2014). A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an Austrian family with Norrie disease. Audiol Neurotol. 19:203-9.
  • Liu DT, Frohne A, Koenighofer M, Frei K, Lucas T, Riss D, Parzefall T. (2020). Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients. Rhinology. 58:18-24.
  • Koenighofer M, Parzefall T, Frohne A, Allen M, Unterberger U, Laccone F, Schoefer C, Frei K, Lucas T. (2019). Spectrum of novel hereditary hemorrhagic telangiectasia variants in an Austrian patient cohort. Clin Exp Otorhinolaryngol. 12:405-411
  • Unterberger U, Eichelberger B, Ulz A, Panzer S. (2016). Antibodies against complement-regulatory proteins on platelets in immune thrombocytopenia. Platelets. 13:1-5.