Menzel C - Search Results

1

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W. Hu H, et al. Among authors: menzel c. Hugo J. 2009 Dec;3(1-4):41-9. doi: 10.1007/s11568-010-9137-y. Epub 2010 Mar 25. Hugo J. 2009. PMID: 21836662 Free PMC article.

2

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W. Hu H, et al. Among authors: menzel c. Hugo J. 2009 Dec;3(1-4):83. doi: 10.1007/s11568-010-9142-1. Epub 2010 Apr 11. Hugo J. 2009. PMID: 20535404 Free PMC article.

3

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: menzel c. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.

4

Mapping translocation breakpoints by next-generation sequencing.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Chen W, et al. Among authors: menzel c. Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7. Genome Res. 2008. PMID: 18326688 Free PMC article.

5

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH. Chen W, et al. Among authors: menzel c. Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2. Eur J Hum Genet. 2010. PMID: 19953122 Free PMC article.

6

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Kalscheuer VM, et al. Among authors: menzel c. Hum Genet. 2007 May;121(3-4):501-9. doi: 10.1007/s00439-006-0284-0. Epub 2007 Jan 9. Hum Genet. 2007. PMID: 17211639

7

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V. Tzschach A, et al. Among authors: menzel c. Am J Med Genet A. 2010 Apr;152A(4):1008-12. doi: 10.1002/ajmg.a.33343. Am J Med Genet A. 2010. PMID: 20358617

8

Comprehensive survey of human brain microRNA by deep sequencing.

Shao NY, Hu HY, Yan Z, Xu Y, Hu H, Menzel C, Li N, Chen W, Khaitovich P. Shao NY, et al. Among authors: menzel c. BMC Genomics. 2010 Jun 30;11:409. doi: 10.1186/1471-2164-11-409. BMC Genomics. 2010. PMID: 20591156 Free PMC article.

9

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. Tzschach A, et al. Among authors: menzel c. Eur J Hum Genet. 2006 Dec;14(12):1317-20. doi: 10.1038/sj.ejhg.5201707. Epub 2006 Aug 23. Eur J Hum Genet. 2006. PMID: 16926859

10

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V. Tzschach A, et al. Among authors: menzel c. Am J Med Genet A. 2007 Feb 15;143(4):333-7. doi: 10.1002/ajmg.a.31601. Am J Med Genet A. 2007. PMID: 17230488

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