Kroisel PM - Search Results

1

Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.

Wagner K, Kroisel PM, Rosenkranz W. Wagner K, et al. Among authors: kroisel pm. Genomics. 1990 Nov;8(3):487-91. doi: 10.1016/0888-7543(90)90035-s. Genomics. 1990. PMID: 1981052

2

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

3

Localization of genes and anonymous DNA probes on the short arm of chromosome 7.

Wagner K, Kroisel PM, Rosenkranz W. Wagner K, et al. Among authors: kroisel pm. Mamm Genome. 1992;3(1):39-41. doi: 10.1007/BF00355840. Mamm Genome. 1992. PMID: 1316194

4

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.

Vortkamp A, Thias U, Gessler M, Rosenkranz W, Kroisel PM, Tommerup N, Krüger G, Götz J, Pelz L, Grzeschik KH. Vortkamp A, et al. Among authors: kroisel pm. Genomics. 1991 Nov;11(3):737-43. doi: 10.1016/0888-7543(91)90082-p. Genomics. 1991. PMID: 1663489

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 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

7

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

8

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

9

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

10

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.

Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Petek E, et al. Among authors: kroisel pm. Mol Genet Genomics. 2007 Jan;277(1):71-81. doi: 10.1007/s00438-006-0173-1. Epub 2006 Oct 17. Mol Genet Genomics. 2007. PMID: 17043892 Clinical Trial.

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