Menzel C - Search Results

1

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T. Wirth J, et al. Among authors: menzel c. J Med Genet. 1999 Apr;36(4):271-8. J Med Genet. 1999. PMID: 10227392 Free PMC article.

2

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Borg I, Freude K, Kübart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM. Borg I, et al. Among authors: menzel c. Eur J Hum Genet. 2005 Aug;13(8):921-7. doi: 10.1038/sj.ejhg.5201429. Eur J Hum Genet. 2005. PMID: 15870826

3

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

4

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

5

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.

Nothwang HG, Schröer A, van der Maarel S, Kübart S, Schneider S, Riesselmann L, Menzel C, Hinzmann B, Vogt D, Rosenthal A, Fryns J, Tommerup N, Haaf T, Ropers HH, Wirth J. Nothwang HG, et al. Among authors: menzel c. Cytogenet Cell Genet. 2000;90(1-2):126-33. doi: 10.1159/000015647. Cytogenet Cell Genet. 2000. PMID: 11060462

6

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K. Wirth J, et al. Among authors: menzel c. Hum Mol Genet. 2001 Feb 1;10(3):201-10. doi: 10.1093/hmg/10.3.201. Hum Mol Genet. 2001. PMID: 11159938

7

Breakpoints around the HOXD cluster result in various limb malformations.

Dlugaszewska B, Silahtaroglu A, Menzel C, Kübart S, Cohen M, Mundlos S, Tümer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Dlugaszewska B, et al. Among authors: menzel c. J Med Genet. 2006 Feb;43(2):111-8. doi: 10.1136/jmg.2005.033555. Epub 2005 Jun 24. J Med Genet. 2006. PMID: 15980115 Free PMC article.

8

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Among authors: menzel c. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC article.

9

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.

10

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. Tzschach A, et al. Among authors: menzel c. Am J Med Genet A. 2006 Mar 1;140(5):496-502. doi: 10.1002/ajmg.a.31105. Am J Med Genet A. 2006. PMID: 16470790

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

332 results

Search Page

Filters