Bartsch O - Search Results

1

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O. Vona B, et al. Among authors: bartsch o. Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278. Ear Hear. 2016. PMID: 26849169

2

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. Audiol Neurootol. 2010;15(6):375-82. doi: 10.1159/000297216. Epub 2010 Mar 17. Audiol Neurootol. 2010. PMID: 20234132

3

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: bartsch o. 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

4

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. Vona B, et al. Among authors: bartsch o. Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29. Genet Med. 2014. PMID: 24875298 Free PMC article.

5

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: bartsch o. Cytogenet Genome Res. 2009;125(3):241-7. doi: 10.1159/000230008. Epub 2009 Sep 4. Cytogenet Genome Res. 2009. PMID: 19738384

6

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: bartsch o. Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550759 Free PMC article.

7

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O. Zechner U, et al. Among authors: bartsch o. Eur J Med Genet. 2009 Sep-Oct;52(5):306-10. doi: 10.1016/j.ejmg.2009.06.001. Epub 2009 Jun 21. Eur J Med Genet. 2009. PMID: 19545651

8

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Bartsch O, et al. 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

9

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Among authors: bartsch o. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

10

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: bartsch o. Fam Cancer. 2015 Mar;14(1):161-5. doi: 10.1007/s10689-014-9754-z. Fam Cancer. 2015. PMID: 25226867

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