Windpassinger C - Search Results

1

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: windpassinger c. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.

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

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

5

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

6

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

7

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

8

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

9

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM. Petek E, et al. Among authors: windpassinger c. J Hum Genet. 2003;48(6):283-287. doi: 10.1007/s10038-003-0023-5. Epub 2003 Apr 24. J Hum Genet. 2003. PMID: 12836054

10

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. Schwarzbraun T, et al. Among authors: windpassinger c. Genomics. 2004 Sep;84(3):577-86. doi: 10.1016/j.ygeno.2004.04.013. Genomics. 2004. PMID: 15498464

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

86 results

Search Page