Menzel C - Search Results

1

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

2

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.

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

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

5

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: menzel c. Hum Genet. 2006 Jan;118(5):559-67. doi: 10.1007/s00439-005-0084-y. Epub 2005 Oct 25. Hum Genet. 2006. PMID: 16249883

6

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

7

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

8

Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).

Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S. Tzschach A, et al. Among authors: menzel c. Ophthalmic Genet. 2008 Mar;29(1):37-40. doi: 10.1080/13816810701867615. Ophthalmic Genet. 2008. PMID: 18363172

9

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Møller RS, et al. Among authors: menzel c. Am J Hum Genet. 2008 May;82(5):1165-70. doi: 10.1016/j.ajhg.2008.03.001. Epub 2008 Apr 10. Am J Hum Genet. 2008. PMID: 18405873 Free PMC article.

10

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ. Kalscheuer VM, et al. Among authors: menzel c. Hum Mutat. 2009 Jan;30(1):61-8. doi: 10.1002/humu.20814. Hum Mutat. 2009. PMID: 18615734 Free PMC article.

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