Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells von Krafchak, Charles M., Pawar, Hemant, Moroi, Sayoko E., Sugar, Alan, Lichter, Paul R., Mackey, David A., Mian, Shahzad, Nairus, Theresa, Elner, Victor, Schteingart, Miriam T., Downs, Catherine A., Kijek, Theresa Guckian, Johnson, Jenae M., Trager, Edward H., Rozsa, Frank W., Ali Mandal, Md Nawajes, Epstein, Michael P., Vollrath, Douglas, Ayyagari, Radha, Boehnke, Michael, Richards, Julia E.

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Cosegregation of Open-angle Glaucoma and the Nail-Patella Syndrome von LICHTER, PAUL R., RICHARDS, JULIA E., DOWNS, CATHERINE A., STRINGHAM, HEATHER M., BOEHNKE, MICHAEL, FARLEY, FRANCES A.

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Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma von Shimizu, Satoko, Lichter, Paul R, Johnson, A.Tim, Zhou, Zhaohui, Higashi, Misao, Gottfredsdottir, Maria, Othman, Mohammad, Moroi, Sayoko E, Rozsa, Frank W, Schertzer, Robert M, Clarke, Margo S, Schwartz, Arthur L, Downs, Catherine A, Vollrath, Douglas, Richards, Julia E

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Variation in optineurin (OPTN) allele frequencies between and within populations von Ayala-Lugo, Rosa M, Pawar, Hemant, Reed, David M, Lichter, Paul R, Moroi, Sayoko E, Page, Michael, Eadie, James, Azocar, Veronica, Maul, Eugenio, Ntim-Amponsah, Christine, Bromley, William, Obeng-Nyarkoh, Ebenezer, Johnson, A Tim, Kijek, Theresa Guckian, Downs, Catherine A, Johnson, Jenae M, Perez-Grossmann, Rodolfo A, Guevara-Fujita, Maria-Luisa, Fujita, Ricardo, Wallace, Margaret R, Richards, Julia E

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Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encod... von Brown, David J., Kim, Theresa B., Petty, Elizabeth M., Downs, Catherine A., Martin, Donna M., Strouse, Peter J., Moroi, Sayoko E., Milunsky, Jeff M., Lesperance, Marci M.

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Septuagenarian's Phenotype Leads to Ascertainment of Familial MYOC Gene Mutation von Lim, Pauline, Lichter, Paul R, Higashi, Misao, Downs, Catherine A, Richards, Julia E

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Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis von Woodroffe, Abigail, Krafchak, Charles M., Fuse, Nobuo, Lichter, Paul R., Moroi, Sayoko E., Schertzer, Robert, Downs, Catherine A., Duren, William L., Boehnke, Michael, Richards, Julia E.

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Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy von Moroi, Sayoko E, Gokhale, Parag A, Schteingart, Miriam T, Sugar, Alan, Downs, Catherine A, Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Elner, Susan G, Elner, Victor M, Flint, Andrew, Epstein, Michael P, Boehnke, Michael, Richards, Julia E

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A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 von Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, Eibschitz-Tsimhoni, Maya, Downs, Catherine A., Rozsa, Frank, Trager, Edward H., Reed, David M., Boehnke, Michael, Moroi, Sayoko E., Richards, Julia E.

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Mutation of the FOXC2 gene in familial distichiasis von Brooks, Brian P, Dagenais, Susan L, Nelson, Christine C, Glynn, Michael W, Caulder, Mark S, Downs, Catherine A, Glover, Thomas W

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A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome von Brooks, Brian P., Moroi, Sayoko E., Downs, Catherine A., Wiltse, Shannon, Othman, Mohammad I., Semina, Elena V., Richards, Julia E.

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Characterization of a stapes ankylosis family with a NOG mutation von BROWN, David J, KIM, Theresa B, PETTY, Elizabeth M, DOWNS, Catherine A, MARTIN, Donna M, STROUSE, Peter J, MOROI, Sayoko E, GEBARSKI, Stephen S, LESPERANCE, Marci M

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An Orthopaedic Scoring System for Nail–Patella Syndrome and Application to a Kindred with Variable Expressivity and Glaucoma von Farley, Frances A, Lichter, Paul R, Downs, Catherine A, McIntosh, Iain, Vollrath, Douglas, Richards, Julia E

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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations von ERICKSON, Robert P, DAGENAIS, Susan L, WITTE, Marlys, GLOVER, Thomas W, CAULDER, Mark S, DOWNS, Catherine A, HERMAN, Gail, JONES, Marilyn C, KERSTJENS-FREDERIKSE, Wilhelmina S, LIDRAL, Andrew C, MCDONALD, Marie, NELSON, Christine C

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Evaluation of the β2-Adrenergic Receptor Gene as a Candidate Glaucoma Gene in 2 Ancestral Populations von McLaren, Ning, Reed, David M, Musch, David C, Downs, Catherine A, Higashi, Misao E, Santiago, Cecilia, Radenbaugh, Pauline A, Allingham, R. Rand, Richards, Julia E, Moroi, Sayoko E

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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree von Richards, Julia E., Ritch, Robert, Lichter, Paul R., Rozsa, Frank W., Stringham, Heather M., Caronia, Ronald M., Johnson, Dennis, Abundo, Glenn P., Willcockson, John, Downs, Catherine A., Thompson, Debra A., Musarella, Maria A., Gupta, Neeru, Othman, Mohammad I., Torrez, Daniel M., Herman, Sarah B., Wong, Deborah J., Higashi, Misao, Boehnke, Michael

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Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations von Erickson, Robert P, Dagenais, Susan L, Caulder, Mark S, Downs, Catherine A, Herman, Gail, Jones, Marilyn C, Kerstjens-Frederikse, Wilhelmina S, Lidral, Andrew C, McDonald, Marie, Nelson, Christine C, Witte, Marlys, Glover, Thomas W

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Evaluation of the [beta]2-Adrenergic Receptor Gene as a Candidate Glaucoma Gene in 2 Ancestral Populations von McLaren, Ning, Reed, David M, Musch, David C, Downs, Catherine A

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Juvenile Glaucoma Linked to the GLC1A Gene on Chromosome 1q in a Panamanian Family von Lichter, Paul R., Richards, Julia E., Boehnke, Michael, Othman, Mohammad, Cameron, Bruce D., Stringham, Heather M., Downs, Catherine A., Lewis, Samuel Boyd, Boyd, Benjamin F.

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Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations von McLaren, Ning, Reed, David M, Musch, David C, Downs, Catherine A, Higashi, Misao E, Santiago, Cecilia, Radenbaugh, Pauline A, Allingham, R Rand, Richards, Julia E, Moroi, Sayoko E

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