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Results: 7

1.

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.

Eur Arch Otorhinolaryngol. 2014 Aug 2. [Epub ahead of print]

PMID:
25085637
[PubMed - as supplied by publisher]
2.

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.

Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K.

Audiol Neurootol. 2014;19(3):203-9. doi: 10.1159/000358866. Epub 2014 Apr 30.

PMID:
24801666
[PubMed - in process]
3.

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.

Ramsebner R, Koenighofer M, Parzefall T, Lucas T, Schoefer C, Frei K.

Int J Pediatr Otorhinolaryngol. 2014 May;78(5):837-42. doi: 10.1016/j.ijporl.2014.02.025. Epub 2014 Feb 26.

PMID:
24636747
[PubMed - in process]
4.

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.

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

PMID:
23640091
[PubMed - indexed for MEDLINE]
5.

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB.

Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8.

PMID:
23606368
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.

Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89.

PMID:
21917145
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Laryngoscope. 2010 Feb;120(2):359-64. doi: 10.1002/lary.20689.

PMID:
19950373
[PubMed - indexed for MEDLINE]

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