Kroisel PM - Search Results

1

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

2

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

3

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

4

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

5

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, Kroisel PM. Varon R, et al. Among authors: kroisel pm. Am J Med Genet A. 2007 Jan 1;143A(1):92-4. doi: 10.1002/ajmg.a.31540. Am J Med Genet A. 2007. PMID: 17103455 No abstract available.

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

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

8

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

9

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

10

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. Among authors: kroisel pm. Am J Med Genet. 1999 May 28;84(3):229-32. Am J Med Genet. 1999. PMID: 10331598

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