Beyer V - Search Results

1

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

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. Among authors: beyer v. 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: beyer v. 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

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. Among authors: beyer v. 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

5

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: beyer v. Clin Genet. 2009 Mar;75(3):251-8. doi: 10.1111/j.1399-0004.2008.01116.x. Clin Genet. 2009. PMID: 19250383

6

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O. Tchirikov M, et al. Among authors: beyer v. Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238. Am J Med Genet A. 2010. PMID: 20186810

7

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

8

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Bartsch O, Schindler D, Beyer V, Gesk S, van't Slot R, Feddersen I, Buijs A, Jaspers NG, Siebert R, Haaf T, Poot M. Bartsch O, et al. Among authors: beyer v. Eur J Med Genet. 2012 Jan;55(1):49-55. doi: 10.1016/j.ejmg.2011.08.001. Epub 2011 Aug 27. Eur J Med Genet. 2012. PMID: 21893220

9

Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer.

Galetzka D, Hansmann T, El Hajj N, Weis E, Irmscher B, Ludwig M, Schneider-Rätzke B, Kohlschmidt N, Beyer V, Bartsch O, Zechner U, Spix C, Haaf T. Galetzka D, et al. Among authors: beyer v. Epigenetics. 2012 Jan 1;7(1):47-54. doi: 10.4161/epi.7.1.18814. Epub 2012 Jan 1. Epigenetics. 2012. PMID: 22207351 Free PMC article.

10

Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.

Kidszun A, Fuchs AJ, Russo A, Bartsch M, Frey-Mahn G, Beyer V, Zechner U, Bartsch O, Mildenberger E. Kidszun A, et al. Among authors: beyer v. Gene. 2012 Oct 15;508(1):117-20. doi: 10.1016/j.gene.2012.07.053. Gene. 2012. PMID: 22980072

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