Petek E - Search Results

1

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Vincent JB, et al. Among authors: petek e. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19086034

2

Isolation of site-specific insert probes from chimeric YACs.

Petek E, Kroisel PM, Wagner K. Petek E, et al. Biotechniques. 1997 Jul;23(1):72 ,74, 77. doi: 10.2144/97231bm15. Biotechniques. 1997. PMID: 9232232 Free article. No abstract available.

3

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. Clin Genet. 1998 Nov;54(5):406-12. doi: 10.1111/j.1399-0004.1998.tb03754.x. Clin Genet. 1998. PMID: 9842993

4

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

Petek E, Kroisel PM, Schuster M, Zierler H, Wagner K. Petek E, et al. Am J Med Genet. 1999 May 28;84(3):229-32. Am J Med Genet. 1999. PMID: 10331598

5

Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611.

Petek E, Emberger W, Kroisel PM, Wagner K. Petek E, et al. Cytogenet Cell Genet. 1999;84(3-4):184-5. doi: 10.1159/000015252. Cytogenet Cell Genet. 1999. PMID: 10393425 No abstract available.

6

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.

Petek E, Köstl G, Mutz I, Wagner K, Kroisel PM. Petek E, et al. Clin Dysmorphol. 2000 Jan;9(1):55-7. doi: 10.1097/00019605-200009010-00011. Clin Dysmorphol. 2000. PMID: 10649799

7

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.

Petek E, Wagner K, Steiner H, Schaffer H, Kroisel PM. Petek E, et al. Prenat Diagn. 2000 Apr;20(4):349-52. doi: 10.1002/(sici)1097-0223(200004)20:4<349::aid-pd808>3.0.co;2-b. Prenat Diagn. 2000. PMID: 10740212

8

Complex chromosomal translocation in a patient with Kallmann syndrome.

Kroisel PM, Petek E, Wagner K, Kurnik P. Kroisel PM, et al. Among authors: petek e. Am J Med Genet. 2000 Mar 20;91(3):240. doi: 10.1002/(sici)1096-8628(20000320)91:3<240::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10756352 No abstract available.

9

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. Cytogenet Cell Genet. 2000;89(3-4):141-2. doi: 10.1159/000015594. Cytogenet Cell Genet. 2000. PMID: 10965104 No abstract available.

10

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

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