Bartsch O - Search Results

1

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

2

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E. Bartsch O, et al. Cytogenet Genome Res. 2007;119(1-2):158-64. doi: 10.1159/000109634. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160797

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

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

Zechner U, Kohlschmidt N, Rittner G, Damatova N, Beyer V, Haaf T, Bartsch O. Zechner U, et al. Among authors: bartsch o. Clin Genet. 2009 Mar;75(3):251-8. doi: 10.1111/j.1399-0004.2008.01116.x. Clin Genet. 2009. PMID: 19250383

5

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

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

7

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Bartsch O, Labonté J, Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T. Bartsch O, et al. Am J Med Genet A. 2010 Jan;152A(1):181-4. doi: 10.1002/ajmg.a.33153. Am J Med Genet A. 2010. PMID: 20014264

8

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Bartsch O, et al. Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198. Am J Med Genet A. 2010. PMID: 20082459

9

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

10

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Bartsch O, Schneider E, Damatova N, Weis R, Tufano M, Iorio R, Ahmed A, Beyer V, Zechner U, Haaf T. Bartsch O, et al. Am J Med Genet A. 2010 Aug;152A(8):2099-102. doi: 10.1002/ajmg.a.33542. Am J Med Genet A. 2010. PMID: 20635403

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