In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome von Faivre, L, Gorlin, R J, Wirtz, M K, Godfrey, M, Dagoneau, N, Samples, J R, Le Merrer, M, Collod-Beroud, G, Boileau, C, Munnich, A, Cormier-Daire, V

Volltext

Proteoglycan expression by human trabecular meshworks von Wirtz, Mary K., Bradley, John M.B., Xu, Hong, Domreis, John, Nobis, Catherine A., Truesdale, Anne T., Samples, John R., Van Buskirk, E. Michael, Acott, Ted S.

Volltext

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q von WIRTZ, M. K, SAMPLES, J. R, KRAMER, P. L, RUST, K, TOPINKA, J. R, YOUNT, J, KOLER, R. D, ACOTT, T. S

Volltext

Expression Profile and Genome Location of cDNA Clones from an Infant Human Trabecular Meshwork Cell Library von Wirtz, Mary K, Samples, John R, Xu, Hong, Severson, Tesa, Acott, Ted S

Volltext

A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability von Petersen, Michael B, Kitsos, George, Samples, John R, Gaudette, N. Donna, Economou-Petersen, Effrosini, Sykes, Renee, Rust, Kristal, Grigoriadou, Maria, Aperis, George, Choi, Dongseok, Psilas, Konstantinos, Craig, Jamie E, Kramer, Patricia L, Mackey, David A, Wirtz, Mary K

Volltext

Identification and Expression of a Novel Type I Procollagen C-Proteinase Enhancer Protein Gene from the Glaucoma Candidate Region on 3q21–q24 von Xu, Hong, Acott, Ted S., Wirtz, Mary K.

Volltext

Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis von Samples, JR, Kitsos, G, Economou-Petersen, E, Steinkamp, P, Sykes, R, Rust, K, Patzer, C, Grigoriadou, M, Aperis, G, Psilas, K, Petersen, MB, Wirtz, MK

Volltext

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree von Kitsos, G, Eiberg, H, Economou-Petersen, E, Wirtz, M K, Kramer, P L, Aspiotis, M, Tommerup, N, Petersen, M B, Psilas, K

Volltext

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen von Edwards, Albert O, Klein, Michael L, Berselli, C.Blair, Hejtmancik, J.Fielding, Rust, Kristal, Wirtz, Mary K, Weleber, Richard G, Acott, Ted S

Volltext

Insulin-like growth factor binding protein-5 expression by human trabecular meshwork von WIRTZ, M. K, XU, H, RUST, K, ALEXANDER, J. P, ACOTT, T. S

Volltext

GLC1F, A New Primary Open-angle Glaucoma Locus, Maps to 7q35-q36 von Wirtz, Mary K, Samples, John R, Rust, Kristal, Lie, Jennifer, Nordling, LeAnn, Schilling, Karla, Acott, Ted S, Kramer, Patricia L

Volltext

Age-related Macular Degeneration: Clinical Features in a Large Family and Linkage to Chromosome 1q von Klein, Michael L, Schultz, Dennis W, Edwards, Al, Matise, Tara C, Rust, Kristal, Berselli, C. Blair, Trzupek, Karmen, Weleber, Richard G, Ott, Jurg, Wirtz, Mary K, Acott, Ted S

Volltext

Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid von Vranka, Janice A., Johnson, Elaine, Zhu, Xianghong, Shepardson, Amy, Alexander, J. Preston, Bradley, John M.B., Wirtz, Mary K., Weleber, Richard G., Klein, Michael L., Acott, Ted S.

Volltext

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII von Weil, D, D'Alessio, M, Ramirez, F, Steinmann, B, Wirtz, M K, Glanville, R W, Hollister, D W

Volltext

Prospects for genetic intervention in primary open-angle glaucoma von WIRTZ, M. K, ACOTT, T. S, SAMPLES, J. R, MORRISON, J. C

Volltext

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain von Wirtz, MK, Glanville, RW, Steinmann, B, Rao, VH, Hollister, DW

Volltext

Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6 von KENNAWAY, N. G, STANKOVA, L, WIRTZ, M. K, WELEBER, R. G

Volltext

Repeated helical epitopes of defined amino acid sequence in human type III collagen identified by monoclonal antibodies von Hisae, Hori, Keene, Douglas R., Sakai, Lynn Y., Wirtz, Mary K., Bächinger, Hans Peter, Godfrey, Maurice, Hollister, David W.

Volltext

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta von Wirtz, M K, Rao, V H, Glanville, R W, Labhard, M E, Pretorius, P J, de Vries, W N, de Wet, W J, Hollister, D W

Volltext

Delineation of the catalytic components of the NADPH-dependent [formula omitted] generating oxidoreductase of human neutrophils von Green, Terrence R., Wirtz, Mary K., Wu, David E.

Volltext