Ofner L - Search Results

1

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. 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

2

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: ofner l. Cytogenet Genome Res. 2006;115(1):84-9. doi: 10.1159/000094804. Cytogenet Genome Res. 2006. PMID: 16974087

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: ofner l. 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

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: ofner l. 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.

5

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

6

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Among authors: ofner l. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.

7

Ectodomain shedding of cystinyl aminopeptidase from human placental membranes.

Ofner LD, Hooper NM. Ofner LD, et al. Placenta. 2002 Jan;23(1):65-70. doi: 10.1053/plac.2001.0751. Placenta. 2002. PMID: 11869093

8

The C-terminal domain, but not the interchain disulphide, is required for the activity and intracellular trafficking of aminopeptidase A.

Ofner LD, Hooper NM. Ofner LD, et al. Biochem J. 2002 Feb 15;362(Pt 1):191-7. doi: 10.1042/0264-6021:3620191. Biochem J. 2002. PMID: 11829756 Free PMC article.

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