Zechner U - Search Results

1

[Congenital sensorineural deafness with microtia and Michel aplasia].

Läßig AK, Bartsch O, Zechner U, Keilmann A. Läßig AK, et al. Among authors: zechner u. Laryngorhinootologie. 2015 Mar;94(3):182-3. doi: 10.1055/s-0034-1389976. Epub 2014 Nov 6. Laryngorhinootologie. 2015. PMID: 25376895 German. No abstract available.

2

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T. Schneider E, et al. Among authors: zechner u. Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20. Hum Mol Genet. 2009. PMID: 19028668

3

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O, Vatter A, Zechner U, Kohlschmidt N, Wetzig C, Baumgart A, Nospes S, Haaf T, Keilmann A. Bartsch O, et al. Among authors: zechner u. Audiol Neurootol. 2010;15(6):375-82. doi: 10.1159/000297216. Epub 2010 Mar 17. Audiol Neurootol. 2010. PMID: 20234132

4

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Bartsch O, et al. Among authors: zechner u. Am J Med Genet A. 2010 Sep;152A(9):2254-61. doi: 10.1002/ajmg.a.33598. Am J Med Genet A. 2010. PMID: 20684013

5

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

Schröder JC, Läßig AK, Galetzka D, Peters A, Castle JC, Diederich S, Zechner U, Müller-Forell W, Keilmann A, Bartsch O. Schröder JC, et al. Among authors: zechner u. Behav Brain Funct. 2013 Feb 18;9:7. doi: 10.1186/1744-9081-9-7. Behav Brain Funct. 2013. PMID: 23419067 Free PMC article.

6

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

Damatova N, Beyer V, Galetzka D, Schneider E, Napiontek U, Keilmann A, Zechner U, Bartsch O, Haaf T. Damatova N, et al. Among authors: zechner u. Cytogenet Genome Res. 2009;125(3):241-7. doi: 10.1159/000230008. Epub 2009 Sep 4. Cytogenet Genome Res. 2009. PMID: 19738384

7

[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].

Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova I. Wolak S, et al. Among authors: zechner u. Anaesthesist. 2014 Sep;63(8-9):643-50. doi: 10.1007/s00101-014-2351-6. Epub 2014 Jul 23. Anaesthesist. 2014. PMID: 25047158 German.

8

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

Etzold A, Schröder JC, Bartsch O, Zechner U, Galetzka D. Etzold A, et al. Among authors: zechner u. Fam Cancer. 2015 Mar;14(1):161-5. doi: 10.1007/s10689-014-9754-z. Fam Cancer. 2015. PMID: 25226867

9

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

Vona B, Neuner C, El Hajj N, Schneider E, Farcas R, Beyer V, Zechner U, Keilmann A, Poot M, Bartsch O, Nanda I, Haaf T. Vona B, et al. Among authors: zechner u. Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550759 Free PMC article.

10

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O. Follmann J, et al. Among authors: zechner u. Gene. 2013 Dec 1;531(2):510-3. doi: 10.1016/j.gene.2013.07.046. Epub 2013 Sep 20. Gene. 2013. PMID: 24055722

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