8
results
for author:"Petek E."
in Literature Citations
| 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. et al. Am. J. Hum. Genet. 82:88-99(2008) · UniProtKB (1) · Mapped (17) |
| Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. Hoerl G., Kroisel P.M., Wagner E., Tiran B., Petek E., Steyrer E. Atherosclerosis 187:101-109(2006) · UniProtKB (1) · Mapped (2) |
| Cloning, genomic structure and expression profile of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homolog. Schwarzbraun T., Vincent J.B., Schumacher A., Geschwind D.H., Oliveira J., Windpassinger C., Ofner L., Ledinegg M.K., Kroisel P.M., Wagner K. et al. |
| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E., Hoerl G., Malli R., Reed J.A., Dierick I., Verpoorten N. et al. |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system. Vincent J.B., Petek E., Thevarkunnel S., Kolozsvari D., Cheung J., Patel M., Scherer S.W. |
| Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Cheung J., Petek E., Nakabayashi K., Tsui L.-C., Vincent J.B., Scherer S.W. |
| Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Petek E., Windpassinger C., Vincent J.B., Cheung J., Boright A.P., Scherer S.W., Kroisel P.M., Wagner K. Am. J. Hum. Genet. 68:848-858(2001) · UniProtKB (2) |
