Nothwang HG - 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: nothwang hg. J Med Genet. 1999 Apr;36(4):271-8. J Med Genet. 1999. PMID: 10227392 Free PMC article.

2

Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.

Nothwang HG, Wirth J, Brandl B, Haaf T, Nielsen KB, Tommerup N, Ropers HH. Nothwang HG, et al. Cytogenet Cell Genet. 1997;79(3-4):293-7. doi: 10.1159/000134747. Cytogenet Cell Genet. 1997. PMID: 9605876

3

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

4

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: nothwang hg. Hum Mol Genet. 2001 Feb 1;10(3):201-10. doi: 10.1093/hmg/10.3.201. Hum Mol Genet. 2001. PMID: 11159938

5

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. Hum Mol Genet. 2001 Apr 1;10(8):797-806. doi: 10.1093/hmg/10.8.797. Hum Mol Genet. 2001. PMID: 11285245

6

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.

Borck G, Wirth J, Hardt T, Tönnies H, Brøndum-Nielsen K, Bugge M, Tommerup N, Nothwang HG, Ropers HH, Haaf T. Borck G, et al. Among authors: nothwang hg. J Med Genet. 2001 Feb;38(2):117-21. doi: 10.1136/jmg.38.2.117. J Med Genet. 2001. PMID: 11288711 Free PMC article. No abstract available.

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: nothwang hg. 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: nothwang hg. Genomics. 2000 Jan 1;63(1):123-32. doi: 10.1006/geno.1999.6027. Genomics. 2000. PMID: 10662551

9

Cosegregation of T108A Elk-1 with mental retardation.

Schröer A, Scheer MP, Zacharias S, Schneider S, Ropers HH, Nothwang HG, Chelly J, Hamel B, Fryns JP, Shaw P, Moraine C. Schröer A, et al. Among authors: nothwang hg. Am J Med Genet. 2000 Dec 11;95(4):404-5. Am J Med Genet. 2000. PMID: 11186900 No abstract available.

10

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Kutsche K, et al. Among authors: nothwang hg. Nat Genet. 2000 Oct;26(2):247-50. doi: 10.1038/80002. Nat Genet. 2000. PMID: 11017088

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