Kroisel PM - 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: kroisel pm. 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

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.

Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E. Kroisel PM, et al. Am J Med Genet A. 2004 Aug 15;129A(1):98-100. doi: 10.1002/ajmg.a.30150. Am J Med Genet A. 2004. PMID: 15266626 No abstract available.

3

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB. Gianakopoulos PJ, et al. Among authors: kroisel pm. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22213695

4

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

5

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

6

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

7

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

8

Complex chromosomal translocation in a patient with Kallmann syndrome.

Kroisel PM, Petek E, Wagner K, Kurnik P. Kroisel PM, et al. 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

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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