Kroisel PM - Search Results

1

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).

Kroepfl T, Petek E, Schwarzbraun T, Kroisel PM, Plecko B. Kroepfl T, et al. Among authors: kroisel pm. Clin Genet. 2008 May;73(5):492-5. doi: 10.1111/j.1399-0004.2008.00982.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341605

2

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

3

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

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

Phenotype of five patients with Greig syndrome and microdeletion of 7p13.

Kroisel PM, Petek E, Wagner K. Kroisel PM, et al. Am J Med Genet. 2001 Aug 15;102(3):243-9. doi: 10.1002/ajmg.1443. Am J Med Genet. 2001. PMID: 11484201

6

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. Among authors: kroisel pm. Clin Genet. 2003 Apr;63(4):297-302. doi: 10.1034/j.1399-0004.2003.00059.x. Clin Genet. 2003. PMID: 12702163

7

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E. Schwarzbraun T, et al. Among authors: kroisel pm. Cytogenet Genome Res. 2006;115(1):84-9. doi: 10.1159/000094804. Cytogenet Genome Res. 2006. PMID: 16974087

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: 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

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: 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

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: kroisel pm. Genomics. 2004 Sep;84(3):577-86. doi: 10.1016/j.ygeno.2004.04.013. Genomics. 2004. PMID: 15498464

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