Kroisel PM - Search Results

1

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Ofner L, Raedle J, Windpassinger C, Schwarzbraun T, Kroisel PM, Wagner K, Petek E. Ofner L, et al. Among authors: kroisel pm. J Hum Genet. 2006;51(2):141-146. doi: 10.1007/s10038-005-0333-x. Epub 2005 Dec 20. J Hum Genet. 2006. PMID: 16365682

2

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. Among authors: kroisel pm. Gene. 2002 Jun 12;292(1-2):25-31. doi: 10.1016/s0378-1119(02)00649-2. Gene. 2002. PMID: 12119096

3

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: kroisel pm. 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

4

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: kroisel pm. 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

5

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. Schwarzbraun T, et al. Among authors: kroisel pm. Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. doi: 10.1016/j.ejmg.2005.10.133. Epub 2005 Nov 28. Eur J Med Genet. 2006. PMID: 16829355

6

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.

Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM. Schwarzbraun T, et al. Among authors: kroisel pm. Am J Med Genet A. 2007 Mar 15;143A(6):619-24. doi: 10.1002/ajmg.a.31627. Am J Med Genet A. 2007. PMID: 17318840 No abstract available.

7

Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly.

Petek E, Kroisel PM, Wagner K. Petek E, et al. Among authors: kroisel pm. Clin Genet. 1998 Nov;54(5):406-12. doi: 10.1111/j.1399-0004.1998.tb03754.x. Clin Genet. 1998. PMID: 9842993

8

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: kroisel pm. Cytogenet Cell Genet. 2000;89(3-4):281-2. doi: 10.1159/000015636. Cytogenet Cell Genet. 2000. PMID: 10965146 No abstract available.

9

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: kroisel pm. 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.

10

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. 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

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