Detalhe da pesquisa
1.
NMD is required for timely cell fate transitions by fine-tuning gene expression and regulating translation.
Genes Dev
; 36(5-6): 348-367, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241478
2.
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Eur Arch Otorhinolaryngol
; 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400873
3.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Hum Genet
; 142(8): 1077-1089, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445457
4.
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
; 205: 108497, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596443
5.
Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.
Clin Otolaryngol
; 46(5): 1044-1049, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851515
6.
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
Eur Arch Otorhinolaryngol
; 274(10): 3619-3625, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821934
7.
The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
Eur Arch Otorhinolaryngol
; 272(1): 229-32, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25085637
8.
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube.
Differentiation
; 85(1-2): 55-66, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23328540
9.
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.
Otol Neurotol
; 42(6): e648-e657, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710140
10.
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, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281559
11.
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.
Clin Exp Otorhinolaryngol
; 12(4): 405-411, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220907
12.
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(9-10): 299-306, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733840
13.
Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.
Otol Neurotol
; 28(7): 884-6, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17955603
14.
A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
Otol Neurotol
; 38(2): 173-179, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861301
15.
The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.
Acta Otolaryngol
; 137(4): 356-360, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27827000
16.
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.
Hear Res
; 196(1-2): 115-8, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15464308
17.
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
Hear Res
; 194(1-2): 81-6, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15276679
18.
Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.
Int J Pediatr Otorhinolaryngol
; 78(5): 837-42, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24636747
19.
Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.
Otol Neurotol
; 34(4): 650-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23640091
20.
Expression of class I histone deacetylases during chick and mouse development.
Int J Dev Biol
; 54(10): 1527-37, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979029