Bartsch O - Search Results

1

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M. Boppudi S, et al. Among authors: bartsch o. Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26970110

2

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

3

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

4

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Aslan D, Akata RF, Schröder J, Happle R, Moog U, Bartsch O. Aslan D, et al. Among authors: bartsch o. Am J Med Genet A. 2014 Nov;164A(11):2947-51. doi: 10.1002/ajmg.a.36727. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25251940

5

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Bülow L, Lissewski C, Bressel R, Rauch A, Stark Z, Zenker M, Bartsch O. Bülow L, et al. Among authors: bartsch o. Am J Med Genet A. 2015 Feb;167A(2):394-9. doi: 10.1002/ajmg.a.36838. Epub 2014 Oct 30. Am J Med Genet A. 2015. PMID: 25358541 Free article.

6

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: bartsch o. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.

7

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

8

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

Zimmermann N, Acosta AM, Kohlhase J, Bartsch O. Zimmermann N, et al. Among authors: bartsch o. Eur J Hum Genet. 2007 Aug;15(8):837-42. doi: 10.1038/sj.ejhg.5201791. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299436

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

178 results

Search Page