Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Frank W Rozsa"'
Autor:
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Externí odkaz:
https://doaj.org/article/94bbb35e2ae74ac4ade880700b4d20c2
Autor:
Janey L Wiggs, Brian L Yaspan, Michael A Hauser, Jae H Kang, R Rand Allingham, Lana M Olson, Wael Abdrabou, Bao J Fan, Dan Y Wang, Wendy Brodeur, Donald L Budenz, Joseph Caprioli, Andrew Crenshaw, Kristy Crooks, Elizabeth Delbono, Kimberly F Doheny, David S Friedman, Douglas Gaasterland, Terry Gaasterland, Cathy Laurie, Richard K Lee, Paul R Lichter, Stephanie Loomis, Yutao Liu, Felipe A Medeiros, Cathy McCarty, Daniel Mirel, Sayoko E Moroi, David C Musch, Anthony Realini, Frank W Rozsa, Joel S Schuman, Kathleen Scott, Kuldev Singh, Joshua D Stein, Edward H Trager, Paul Vanveldhuisen, Douglas Vollrath, Gadi Wollstein, Sachiko Yoneyama, Kang Zhang, Robert N Weinreb, Jason Ernst, Manolis Kellis, Tomohiro Masuda, Don Zack, Julia E Richards, Margaret Pericak-Vance, Louis R Pasquale, Jonathan L Haines
Publikováno v:
PLoS Genetics, Vol 8, Iss 4, p e1002654 (2012)
Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. We have performed a meta
Externí odkaz:
https://doaj.org/article/c0f601961fb1441ea4c7117937edd651
Autor:
Mohammad Othman, Gregory L. Skuta, Laurel Wiinikka-Buesser, Jun Li, Lev Prasov, Louise C. Pyle, Alexander E. Katz, Biliana O. Veleva-Rotse, S. A. Sullivan, Sayoko E. Moroi, Robert A. Sisk, Sally A. Camper, Ayse Bilge Ozel, Laryssa A. Huryn, Sarah Sheskey, James Eadie, Frank W. Rozsa, Cheng-mao Lin, Michael Boehnke, Julia E. Richards, Jill E. Urquhart, Michelle L. Brinkmeier, Sarah J. Garnai, Steven M. Archer, Tomas S. Aleman, Robert B. Hufnagel, Ben Emery, Hemant Pawar, Graeme C.M. Black
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Autor:
Nobuo Fuse, Satoko Shimizu, Maya Eibschitz-Tsimhoni, Julia E. Richards, David M. Reed, Alan Sugar, Edward H. Trager, Frank W. Rozsa, Michael Boehnke, Sayoko E. Moroi, Miriam T. Schteingart, Charles M. Krafchak, Catherine A. Downs, Michael P. Epstein
Publikováno v:
American Journal of Medical Genetics. :372-377
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus respon
Publikováno v:
Journal of biomechanical engineering. 136(7)
Ocular tissue properties have been widely studied in tension and compression for humans and a variety of animals. However, direct shear testing of the tissues of the sclera appear to be absent from the literature even though modeling, analyses, and a
Autor:
Deborah J. Wong, Ronald M. Caronia, Michael Boehnke, Sarah B. Herman, Debra A. Thompson, Julia E. Richards, Paul R. Lichter, Mohammad Othman, Maria A. Musarella, John Willcockson, Misao Higashi, Heather M. Stringham, Frank W. Rozsa, Neeru Gupta, Glenn P. Abundo, Catherine A. Downs, Dennis Johnson, Robert Ritch, Daniel M. Torrez
Publikováno v:
Ophthalmology. 105:1698-1707
Objective This study aimed to update a large kindred with juvenile-onset primary open-angle glaucoma (POAG) first described in 1940 and to identify the underlying genetic cause of the disease. Design Molecular genetic study of a single kindred, inclu
Publikováno v:
Journal of Bacteriology
Scopus-Elsevier
Scopus-Elsevier
A plasmid library of Neisseria gonorrhoeae sequences was screened for the ability to mediate recombinations on a sequence containing the Moraxella lacunata type 4 pilin gene invertible region in Escherichia coli. A plasmid containing the N. gonorrhoe
Autor:
Brian L. Yaspan, Jonathan L. Haines, Caroline M. Schmidt, Donald J. Zack, Jesse Gilbert, Kari Branham, Sara Akbari, Gonçalo R. Abecasis, Sayoko E. Moroi, Hemant Pawar, Megan Ulmer, Wei Chen, Doug Gaasterland, Sarah J. Garnai, R. Rand Allingham, Julia E. Richards, Melisa Nika, David C. Musch, Yutao Liu, Michael A. Hauser, David M. Reed, Anand Swaroop, Janey L. Wiggs, Paul R. Lichter, Jun Li, Mohammad Othman, A. Bilge Ozel, Kathleen M. Scott, John R. Heckenlively, Jae H. Kang, David S. Friedman, Louis R. Pasquale, Frank W. Rozsa, Allison E. Ashley-Koch
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7c06c88b6ff4ad2310cdb9a1b78615
https://europepmc.org/articles/PMC3982323/
https://europepmc.org/articles/PMC3982323/
Autor:
Paul R. Lichter, Douglas E. Gaasterland, David S. Friedman, Joshua D. Stein, Brian L. Yaspan, Yutao Liu, Frank W. Rozsa, Felipe A. Medeiros, Joel S. Schuman, Douglas Vollrath, Robert N. Weinreb, Stephanie Loomis, Gadi Wollstein, Jae H. Kang, Richard K. Lee, Louis R. Pasquale, Jonathan L. Haines, Sachiko Yoneyama, Kuldev Singh, Michael A. Hauser, Lana M. Olson, Anthony Realini, Wael Abdrabou, Catherine A. McCarty, E. DelBono, Donald L. Budenz, Margaret A. Pericak-Vance, Donald J. Zack, Julia E. Richards, Janey L. Wiggs, Sayoko E. Moroi, Robert Rand Allingham, Kang Zhang, Terry Gaasterland
Publikováno v:
Journal of glaucoma, vol 22, iss 7
Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33ea61581a659c91e89e706512424d51
https://escholarship.org/uc/item/8vh9z9h0
https://escholarship.org/uc/item/8vh9z9h0
Publikováno v:
Journal of Biomechanical Engineering. 134
The constitutive behavior of bovine scleral and corneal tissues is measured in tension and compression, at quasi-static and moderate strain rates. Experiments are conducted at strain rates up to about 50 strain per second by a pneumatic testing syste