Windpassinger C - Search Results

1

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.

2

Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.

Petek E, Windpassinger C, Egger H, Kroisel PM, Wagner K. Petek E, et al. Among authors: windpassinger c. Cytogenet Cell Genet. 2000;89(3-4):141-2. doi: 10.1159/000015594. Cytogenet Cell Genet. 2000. PMID: 10965104 No abstract available.

3

Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.

Emberger W, Windpassinger C, Petek E, Kroisel PM, Wagner K. Emberger W, et al. Among authors: windpassinger c. Cytogenet Cell Genet. 2000;89(3-4):281-2. doi: 10.1159/000015636. Cytogenet Cell Genet. 2000. PMID: 10965146 No abstract available.

4

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. Petek E, et al. Among authors: windpassinger c. Am J Hum Genet. 2001 Apr;68(4):848-58. doi: 10.1086/319523. Epub 2001 Mar 9. Am J Hum Genet. 2001. PMID: 11254443 Free PMC article.

5

Candidate region for Gilles de la Tourette syndrome at 7q31.

Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, Wagner K. Kroisel PM, et al. Among authors: windpassinger c. Am J Med Genet. 2001 Jul 1;101(3):259-61. doi: 10.1002/1096-8628(20010701)101:3<259::aid-ajmg1374>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11424142

6

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

Windpassinger C, Kroisel PM, Wagner K, Petek E. Windpassinger C, et al. Gene. 2002 Jun 12;292(1-2):25-31. doi: 10.1016/s0378-1119(02)00649-2. Gene. 2002. PMID: 12119096

7

Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.

Windpassinger C, Kroisel PM, Wagner K, Petek E. Windpassinger C, et al. Cytogenet Genome Res. 2002;97(3-4):155-7. doi: 10.1159/000066598. Cytogenet Genome Res. 2002. PMID: 12438705

8

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM. Petek E, et al. Among authors: windpassinger c. Am J Med Genet A. 2003 Mar 1;117A(2):122-6. doi: 10.1002/ajmg.a.10155. Am J Med Genet A. 2003. PMID: 12567408

9

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.

Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM. Petek E, et al. Among authors: windpassinger c. J Med Genet. 2003 Apr;40(4):e47. doi: 10.1136/jmg.40.4.e47. J Med Genet. 2003. PMID: 12676920 Free PMC article. No abstract available.

10

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.

Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, Kroisel PM. Windpassinger C, et al. Clin Genet. 2003 Apr;63(4):297-302. doi: 10.1034/j.1399-0004.2003.00059.x. Clin Genet. 2003. PMID: 12702163

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