Bartsch O - Search Results

1

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G. Bartsch O, et al. J Med Genet. 2002 Jul;39(7):496-501. doi: 10.1136/jmg.39.7.496. J Med Genet. 2002. PMID: 12114483 Free PMC article. No abstract available.

2

Fryns syndrome: two further cases without lateral diaphragmatic defects.

Bartsch O, Meinecke P, Kamin G. Bartsch O, et al. Clin Dysmorphol. 1995 Oct;4(4):352-8. doi: 10.1097/00019605-199510000-00012. Clin Dysmorphol. 1995. PMID: 8574427

3

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.

4

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S. Bartsch O, et al. Am J Med Genet. 1999 Apr 23;83(5):425-6. doi: 10.1002/(sici)1096-8628(19990423)83:5<425::aid-ajmg17>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10232757 No abstract available.

5

Mulibrey nanism and Wilms tumor.

Seemanová E, Bartsch O. Seemanová E, et al. Among authors: bartsch o. Am J Med Genet. 1999 Jul 2;85(1):76-8. doi: 10.1002/(sici)1096-8628(19990702)85:1<76::aid-ajmg12>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10377015 No abstract available.

6

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.

Bartsch O, Kress W, Wagner A, Seemanova E. Bartsch O, et al. Cytogenet Cell Genet. 1999;85(3-4):310-4. doi: 10.1159/000015284. Cytogenet Cell Genet. 1999. PMID: 10449925

7

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F. Bartsch O, et al. Eur J Hum Genet. 1999 Oct-Nov;7(7):748-56. doi: 10.1038/sj.ejhg.5200378. Eur J Hum Genet. 1999. PMID: 10573006

8

Burning down DEFECT11.

Wuyts W, Van Hul W, Bartsch O, Wilkie AO, Meinecke P. Wuyts W, et al. Among authors: bartsch o. Am J Med Genet. 2001 May 15;100(4):331-5. doi: 10.1002/ajmg.1267. Am J Med Genet. 2001. PMID: 11343325 No abstract available.

9

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P. Bartsch O, et al. Am J Med Genet A. 2003 Feb 15;117A(1):1-5. doi: 10.1002/ajmg.a.10914. Am J Med Genet A. 2003. PMID: 12548732

10

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O. Wuyts W, et al. Among authors: bartsch o. Eur J Hum Genet. 2004 May;12(5):400-6. doi: 10.1038/sj.ejhg.5201163. Eur J Hum Genet. 2004. PMID: 14872200 Review.

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