Kübart S - Search Results

1

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: kubart s. 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.

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: kubart s. Eur J Hum Genet. 2005 Aug;13(8):921-7. doi: 10.1038/sj.ejhg.5201429. Eur J Hum Genet. 2005. PMID: 15870826

3

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: kubart s. 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.

4

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

Nothwang HG, Kim HG, Aoki J, Geisterfer M, Kübart S, Wegner RD, van Moers A, Ashworth LK, Haaf T, Bell J, Arai H, Tommerup N, Ropers HH, Wirth J. Nothwang HG, et al. Among authors: kubart s. Hum Mol Genet. 2001 Apr 1;10(8):797-806. doi: 10.1093/hmg/10.8.797. Hum Mol Genet. 2001. PMID: 11285245

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: kubart s. Cytogenet Cell Genet. 2000;90(1-2):126-33. doi: 10.1159/000015647. Cytogenet Cell Genet. 2000. PMID: 11060462

6

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: kubart s. 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.

7

Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22.

Thiesen S, Kübart S, Ropers HH, Nothwang HG. Thiesen S, et al. Among authors: kubart s. Biochem Biophys Res Commun. 2000 Jun 24;273(1):364-9. doi: 10.1006/bbrc.2000.2925. Biochem Biophys Res Commun. 2000. PMID: 10873612

8

DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.

Scheer MP, van der Maarel S, Kübart S, Schulz A, Wirth J, Schweiger S, Ropers H, Nothwang HG. Scheer MP, et al. Among authors: kubart s. Genomics. 2000 Jan 1;63(1):123-32. doi: 10.1006/geno.1999.6027. Genomics. 2000. PMID: 10662551

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