Publications by authors named "Lisa Ofner"

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An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Lisa Ofner

Am J Hum Genet· January 2008

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A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen-Kaesbach, Barbara Schaperdoth, Karl-Heinz Preisegger

Am J Med Genet A· March 2007

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Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
Lisa Ofner, Jochen Raedle, Christian Windpassinger, Thomas Schwarzbraun, Peter M Kroisel

J Hum Genet· October 2006

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Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, John B Vincent, Joseph Cheung

Eur J Med Genet· September 2006

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Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Thomas Schwarzbraun, John B Vincent, Axel Schumacher, Daniel H Geschwind, Joao Oliveira, Lisa Ofner

Genomics· September 2004

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The C-terminal domain, but not the interchain disulphide, is required for the activity and intracellular trafficking of aminopeptidase A.
Lisa D Ofner, Nigel M Hooper

Biochem J· February 2002

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