Search Results - "Frei, Klemens"

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation by Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor

“…Background: Hereditary hearing loss is a disorder with high genetic and allelic heterogeneity. Diagnostic screening of candidate genes commonly yields novel…”
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Ti.: “High” vagus nerve lesions in varicella Zoster infection by Grisold, Wolfgang, Schwarzmeier, Josef, Frei, Klemens, Neumüller, Gerhard, Breier, Friedrich

“…“High” vagus nerve lesions are rare and refer to the region of the nerve from the jugular foramen through the branching of the auricular (Arnold's branch) and…”
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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort by Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor

“…Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance…”
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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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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria by Frohne, Alexandra, Vrabel, Sybille, Laccone, Franco, Neesen, Juergen, Roesch, Sebastian, Dossena, Silvia, Schoefer, Christian, Frei, Klemens, Parzefall, Thomas

“…Purpose Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become…”
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Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma by Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Frei, Klemens, Lucas, Trevor

“…Objective Identification of variations in tumour suppressor genes encoding the tetrameric succinate dehydrogenase (SDHx) mitochondrial enzyme complex may lead…”
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A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity by Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Waldstein, Sebastian M., Mitulovic, Goran, Schoefer, Christian, Frei, Klemens, Lucas, Trevor

“…Nanophthalmos-4 is a rare autosomal dominant disorder caused by two known variations in TMEM98. An Austrian Caucasian pedigree was identified suffering from…”
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High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss by Frohne, Alexandra, Koenighofer, Martin, Liu, David Tianxiang, Laccone, Franco, Neesen, Juergen, Gstoettner, Wolfgang, Schoefer, Christian, Lucas, Trevor, Frei, Klemens, Parzefall, Thomas

“…Genetic hearing loss (HL) is often monogenic. Whereas more than half of autosomal recessive (AR) cases in Austria are caused by mutations in a single gene, no…”
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A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation by Frohne, Alexandra, Koenighofer, Martin, Cetin, Hakan, Nieratschker, Michael, Liu, David T., Laccone, Franco, Neesen, Juergen, Nemec, Stefan F., Schwarz-Nemec, Ursula, Schoefer, Christian, Avraham, Karen B., Frei, Klemens, Grabmeier-Pfistershammer, Katharina, Kratzer, Bernhard, Schmetterer, Klaus, Pickl, Winfried F., Parzefall, Thomas

“…Loss-of-function variants in AP3D1 have been linked to Hermansky–Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous…”
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High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss by Frohne, Alexandra, Koenighofer, Martin, Liu, David Tianxiang, Laccone, Franco, Neesen, Juergen, Gstoettner, Wolfgang, Schoefer, Christian, Lucas, Trevor, Frei, Klemens, Parzefall, Thomas

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Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation by Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor

“…Bi-allelic variations in the gap junction protein beta-2 ( GJB2 ) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2…”
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Occurrence of coagulation factor deficiency in post-tonsillectomy hemorrhage by Zumtobel, Michaela, Frei, Klemens

“…Summary INTRODUCTION: Tonsillectomy is one of the most common surgical procedures in Otorhinolaryngology and approximately 500 tonsillectomies are performed…”
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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 by Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens, Lucas, Trevor

“…Summary Background Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for…”
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Epistaxis grading in Osler's disease: comparison of comprehensive scores with detailed bleeding diaries by Parzefall, Thomas, Wolf, Axel, Frei, Klemens, Kaider, Alexandra, Riss, Dominik

“…Background Use of reliable grading scores to measure epistaxis severity in hereditary hemorrhagic telangiectasia (HHT) is essential in clinical routine and for…”
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Delayed auditory pathway maturation and prematurity by Koenighofer, Martin, Parzefall, Thomas, Ramsebner, Reinhard, Lucas, Trevor, Frei, Klemens

“…Summary Background Hearing loss is the most common sensory disorder in developed countries and leads to a severe reduction in quality of life. In this…”
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A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment by Wolf, Axel, Frohne, Alexandra, Allen, Matthew, Parzefall, Thomas, Koenighofer, Martin, Schreiner, Markus M., Schoefer, Christian, Frei, Klemens, Lucas, Trevor

“…BACKGROUND:Heterozygous mutations in GJB2 (MIM121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from…”
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The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria by Parzefall, Thomas, Lucas, Trevor, Koenighofer, Martin, Ramsebner, Reinhard, Frohne, Alexandra, Czeiger, Shelly, Baumgartner, Wolf-Dieter, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens

“…Conclusion: Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing…”
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multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy by Rodríguez-Ballesteros, Montserrat, Reynoso, Raúl, Olarte, Margarita, Villamar, Manuela, Morera, Constantino, Santarelli, Rosamaria, Arslan, Edoardo, Medá, Carme, Curet, Carlos, Völter, Christiane, Sainz-Quevedo, Manuel, Castorina, Pierangela, Ambrosetti, Umberto, Berrettini, Stefano, Frei, Klemens, Tedín, Socorro, Smith, Janine, Cruz Tapia, M, Cavallé, Laura, Gelvez, Nancy, Primignani, Paola, Gómez-Rosas, Elena, Martín, Mirta, Moreno-Pelayo, Miguel A, Tamayo, Martalucía, Moreno-Barral, José, Moreno, Felipe, del Castillo, Ignacio

“…Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been…”
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Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients by Liu, D T, Frohne, A, Koenighofer, M, Frei, K, Lucas, T, Riss, D, Parzefall, T

“…Recurrent epistaxis is the principal symptom of hereditary hemorrhagic telangiectasia (HHT). Currently, there is no standard therapy for this condition…”
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Effect of postoperative use of diclofenac on pharyngocutaneous fistula development after primary total laryngopharyngectomy: Results of a single-center retrospective study by Parzefall, Thomas, Wolf, Axel, Czeiger, Shelly, Frei, Klemens, Formanek, Michael, Erovic, Boban M.

“…Background Primary total laryngopharyngectomy is the treatment of choice in many cases of locally advanced hypopharyngeal and laryngeal cancer. Development of…”
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