Hofbeck M - Search Results

1

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A. Rauch R, et al. Among authors: hofbeck m. J Med Genet. 2010 May;47(5):321-31. doi: 10.1136/jmg.2009.070391. Epub 2009 Nov 30. J Med Genet. 2010. PMID: 19948535 Free article.

2

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M. Rauch A, et al. Among authors: hofbeck m. J Med Genet. 2005 Nov;42(11):871-6. doi: 10.1136/jmg.2004.030619. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831592 Free PMC article.

3

Search for somatic 22q11.2 deletions in patients with conotruncal heart defects.

Rauch A, Hofbeck M, Cesnjevar R, Koch A, Rauch R, Buheitel G, Singer H, Weyand M. Rauch A, et al. Among authors: hofbeck m. Am J Med Genet A. 2004 Jan 15;124A(2):165-9. doi: 10.1002/ajmg.a.20323. Am J Med Genet A. 2004. PMID: 14699615

4

Genotype-phenotype correlations in Noonan syndrome.

Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Zenker M, et al. Among authors: hofbeck m. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945

5

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: hofbeck m. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.

6

Monozygotic twins concordant for Cayler syndrome.

Rauch A, Hofbeck M, Bähring S, Leipold G, Trautmann U, Singer H, Pfeiffer RA. Rauch A, et al. Among authors: hofbeck m. Am J Med Genet. 1998 Jan 6;75(1):113-7. Am J Med Genet. 1998. PMID: 9450869

7

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.

Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA. Rauch A, et al. Among authors: hofbeck m. Am J Med Genet. 1998 Jul 24;78(4):322-31. Am J Med Genet. 1998. PMID: 9714433

8

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.

Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H, Reis A, Hofbeck M. Rauch A, et al. Among authors: hofbeck m. J Med Genet. 2004 Apr;41(4):e40. doi: 10.1136/jmg.2003.010975. J Med Genet. 2004. PMID: 15060116 Free PMC article. No abstract available.

9

Hypoparathyroidism in conotruncal heart defects.

Koch A, Hofbeck M, Buheitel G, Dörr HG, Rauch A, Rauch R, Singer H. Koch A, et al. Among authors: hofbeck m. Eur J Pediatr. 2002 Apr;161(4):208-11. doi: 10.1007/s004310100818. Eur J Pediatr. 2002. PMID: 12014387

10

[Cervical origin of the subclavian artery: echocardiographic diagnosis in patients with monosomy 22q11].

Rauch R, Rauch A, Kaulitz R, Koch A, Zink S, Girisch M, Singer H, Hofbeck M. Rauch R, et al. Among authors: hofbeck m. Ultraschall Med. 2005 Feb;26(1):36-41. doi: 10.1055/s-2004-813938. Ultraschall Med. 2005. PMID: 15700226 German.

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