Bartsch O - Search Results

1

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

2

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM. Bartsch O, et al. Hum Genet. 2006 Sep;120(2):179-86. doi: 10.1007/s00439-006-0215-0. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783566

3

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

4

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

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

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

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. Haensel J, et al. Among authors: bartsch o. Am J Med Genet A. 2009 Oct;149A(10):2236-40. doi: 10.1002/ajmg.a.32993. Am J Med Genet A. 2009. PMID: 19760652

8

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

9

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

10

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: bartsch o. 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

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