Zobrazeno 1 - 10 of 42 pro vyhledávání: '"Wirtz, M K"'
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Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
Autor: Kitsos, G., Petrou, Z., Grigoriadou, M., Samples, J. R., Hewitt, A. W., Kokotas, H., Giannoulia-Karantana, A., Mackey, D. A., Wirtz, M. K., Moschou, M., Ioannidis, J. P., Petersen, M. B.
BACKGROUND: Mutations in the MYOC gene have been shown to explain 5% of unrelated primary open angle glaucoma (POAG) in different populations. In particular, the T377M MYOC mutation has arisen at least three separate times in history, in Great Britai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::8c97b5986022cb64d9fe8620ca50862b
http://olympias.lib.uoi.gr/jspui/handle/123456789/19048
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3
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability
Autor: Petersen, M. B., Kitsos, G., Samples, J. R., Gaudette, N. D., Economou-Petersen, E., Sykes, R., Rust, K., Grigoriadou, M., Aperis, G., Choi, D., Psilas, K., Craig, J. E., Kramer, P. L., Mackey, D. A., Wirtz, M. K.
PURPOSE: POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::538d1b174b7613b4e9112790d640b31c
http://olympias.lib.uoi.gr/jspui/handle/123456789/24335
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4
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis
Autor: Samples, J. R., Kitsos, G., Economou-Petersen, E., Steinkamp, P., Sykes, R., Rust, K., Patzer, C., Grigoriadou, M., Aperis, G., Psilas, K., Petersen, M. B., Wirtz, M. K.
The GLC1C locus for primary open-angle glaucoma (POAG) is inherited as an autosomal dominant trait. This region on chromosome 3 is 11 cM long. DNA samples from members of a Greek and an American GLC1C family were obtained to determine whether additio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::c7b227a2fca7ea82736fc10907b72c46
http://olympias.lib.uoi.gr/jspui/handle/123456789/18727
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5
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q
Autor: Wirtz, M K, Samples, J R, Kramer, P L, Rust, K, Topinka, J R, Yount, J, Koler, R D, Acott, T S
Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3102da73dcd4fd44d04583ddb4fe086d
https://europepmc.org/articles/PMC1712411/
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6
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity
Autor: D'Alessio, M, Ramirez, F, Blumberg, B D, Wirtz, M K, Rao, V H, Godfrey, M D, Hollister, D W
A child affected by the type VII form of Ehlers-Danlos syndrome (EDS VII) was shown to have a heterozygous structural defect in the amino-terminus of pro-alpha 1(I) collagen. As a result, type I procollagen trimers containing defective subunits are n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1633be8e33804ece4308eeb1a078e4cf
https://europepmc.org/articles/PMC1683297/
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