المؤلفون: van der Heide, C, Goar, W, Meyer, KJ, Alward, WLM, Boese, EA, Sears, NC, Roos, BR, Kwon, YH, DeLuca, AP, Siggs, OM, Gonzaga-Jauregui, C, Sheffield, VC, Wang, K, Stone, EM, Mullins, RF, Anderson, MG, Fan, BJ, Ritch, R, Craig, JE, Wiggs, JL, Scheetz, TE, Fingert, JH

العلاقة: pii: 10.1186/s12864-021-07782-0; van der Heide, C., Goar, W., Meyer, K. J., Alward, W. L. M., Boese, E. A., Sears, N. C., Roos, B. R., Kwon, Y. H., DeLuca, A. P., Siggs, O. M., Gonzaga-Jauregui, C., Sheffield, V. C., Wang, K., Stone, E. M., Mullins, R. F., Anderson, M. G., Fan, B. J., Ritch, R., Craig, J. E. ,. Fingert, J. H. (2021). Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC GENOMICS, 22 (1), https://doi.org/10.1186/s12864-021-07782-0Test.; http://hdl.handle.net/11343/301636Test

الإتاحة: https://doi.org/10.1186/s12864-021-07782-0Test
http://hdl.handle.net/11343/301636Test

المؤلفون: McDowell, CM, Kizhatil, K, Elliott, MH, Overby, DR, Van Batenburg-Sherwood, J, Millar, JC, Kuehn, MH, Zode, G, Acott, TS, Anderson, MG, Bhattacharya, SK, Bertrand, JA, Borras, T, Bovenkamp, DE, Cheng, L, Danias, J, De Ieso, ML, Du, Y, Faralli, JA, Fuchshofer, R, Ganapathy, PS, Gong, H, Herberg, S, Hernandez, H, Humphries, P, John, SWM, Kaufman, PL, Keller, KE, Kelley, MJ, Kelly, RA, Krizaj, D, Kumar, A, Leonard, BC, Lieberman, RL, Liton, P, Liu, Y, Liu, KC, Lopez, NN, Mao, W, Mavlyutov, T, McDonnell, F, McLellan, GJ, Mzyk, P, Nartey, A, Pasquale, LR, Patel, GC, Pattabiraman, PP, Peters, DM, Raghunathan, V, Rao, PV, Rayana, N, Raychaudhuri, U, Reina-Torres, E, Ren, R, Rhee, D, Chowdhury, UR, Samples, JR, Samples, EG, Sharif, N, Schuman, JS, Sheffield, VC, Stevenson, CH, Soundararajan, A, Subramanian, P, Sugali, CK, Sun, Y, Toris, CB, Torrejon, KY, Vahabikashi, A, Vranka, JA, Wang, T, Willoughby, CE, Xin, C, Yun, H, Zhang, HF, Fautsch, MP, Tamm, ER, Clark, AF, Ethier, CR, Stamer, WD

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Ophthalmology, mouse model, conventional outflow, glaucoma, intraocular pressure, ocular hypertension, outflow facility, OPEN-ANGLE GLAUCOMA, TRABECULAR MESHWORK CELLS, OPTIC-NERVE DAMAGE, INTRAOCULAR-PRESSURE, EXTRACELLULAR-MATRIX, HYDROGEN-SULFIDE, RESCUES GLAUCOMA, HUMAN EYES, SYMPATHETIC NEUROTRANSMISSION, NONINVASIVE DETERMINATION, Animals, Aqueous Humor, Consensus, Disease Models, Animal, Mice, Tonometry, Ocular, Trabecular Meshwork

العلاقة: Investigative Ophthalmology and Visual Science; http://hdl.handle.net/10044/1/97554Test

الإتاحة: https://doi.org/10.1167/iovs.63.2.12Test
http://hdl.handle.net/10044/1/97554Test

المؤلفون: Justice, CM, Cuellar, A, Bala, K, Sabourin, JA, Cunningham, ML, Crawford, K, Phipps, JM, Zhou, Y, Cilliers, D, Byren, JC, Johnson, D, Wall, SA, Morton, JEV, Noons, P, Sweeney, E, Weber, A, Rees, KEM, Wilson, LC, Simeonov, E, Kaneva, R, Yaneva, N, Georgiev, K, Bussarsky, A, Senders, C, Zwienenberg, M, Boggan, J, Roscioli, T, Tamburrini, G, Barba, M, Conway, K, Sheffield, VC, Brody, L, Mills, JL, Kay, D, Sicko, RJ, Langlois, PH, Tittle, RK, Botto, LD, Jenkins, MM, LaSalle, JM, Lattanzi, W, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA, Study, National Birth Defects Prevention

العلاقة: https://ora.ox.ac.uk/objects/uuid:c7cf862e-d152-4f72-8653-acb431feece5Test; https://doi.org/10.1007/s00439-020-02157-zTest

الإتاحة: https://doi.org/10.1007/s00439-020-02157-zTest
https://ora.ox.ac.uk/objects/uuid:c7cf862e-d152-4f72-8653-acb431feece5Test

المؤلفون: Gorin, MB, Jackson, KE, Ferrell, RE, Sheffield, VC, Jacobson, SG, Gass, JD, Mitchell, E, Stone, EM

المصدر: Ophthalmology. 102(2)

مصطلحات موضوعية: Fundus Oculi, Humans, Retinal Degeneration, Macular Degeneration, Chromosome Deletion, Intermediate Filament Proteins, Arginine, Proline, Eye Proteins, Membrane Glycoproteins, Nerve Tissue Proteins, Fluorescein Angiography, Electrophoresis, Polyacrylamide Gel, Polymerase Chain Reaction, Pedigree, DNA Mutational Analysis, Amino Acid Sequence, Base Sequence, Visual Fields, Phenotype, Point Mutation, Molecular Sequence Data, Adolescent, Adult, Aged, Middle Aged, Female, Male, Peripherins, Electrophoresis, Polyacrylamide Gel, Ophthalmology & Optometry, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2wd9c2vgTest

المؤلفون: Buetow, KH, Sheffield, VC, Zhu, M, Zhou, T, Shen, FM, Hino, O, Smith, M, McMahon, BJ, Lanier, AP, London, WT

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 89(20)

مصطلحات موضوعية: Rare Diseases, Genetics, Cancer, Base Sequence, Carcinoma, Hepatocellular, DNA, Neoplasm, Genes, p53, Humans, Liver Neoplasms, Molecular Sequence Data, Mutation, Oligodeoxyribonucleotides, Polymerase Chain Reaction, aflatoxin b1, protein p53, restriction endonuclease, adult, aged, amino acid substitution, article, codon, controlled study, dna sequence, exon, female, gel electrophoresis, gene amplification, gene locus, gene mutation, histopathology, human, human tissue, liver cell carcinoma, male, mutation rate, polymerase chain reaction, priority journal, tumor growth, tumor suppressor gene, Human, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0k35h01rTest

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

المؤلفون: Riise, R, Tornqvist, Kristina, Wright, AF, Mykytyn, K, Sheffield, VC

المصدر: Archives of Ophthalmology. 120(10):1364-1367

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

الوصول الحر: https://lup.lub.lu.se/record/325799Test
http://archopht.ama-assn.org/cgi/content/abstract/120/10/1364Test

المؤلفون: Anney, R, Klei, L, Pinto, D, Almeida, J, Bacchelli, E, Baird, G, Bolshakova, N, Bölte, S, Bolton, P, Bourgeron, T, Brennan, S, Brian, J, Casey, J, Conroy, J, Correia, C, Corsello, C, Crawford, E, de Jonge, M, Delorme, R, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B, Folstein, SE, Fombonne, E, Gilbert, J, Gillberg, C, Glessner, J, Green, A, Green, J, Guter, S, Heron, E, Holt, R, Howe, J, Hughes, G, Hus, V, Igliozzi, R, Jacob, S, Kenny, G, Kim, C, Kolevzon, A, Kustanovich, V, Lajonchere, C, Lamb, J, Law-Smith, M, Leboyer, M, Le Couteur, A, Leventhal, B, Liu, X, Lombard, F, Lord, C, Lotspeich, L, Lund, S, Magalhaes, T, Mantoulan, C, McDougle, C, Melhem, N, Merikangas, A, Minshew, N, Mirza, G, Munson, J, Noakes, C, Nygren, G, Papanikolaou, K, Pagnamenta, A, Parrini, B, Paton, T, Pickles, A, Posey, D, Poustka, F, Ragoussis, I, Regan, R, Roberts, W, Roeder, K, Roge, B, Rutter, M, Schlitt, S, Shah, N, Sheffield, VC, Soorya, L, Sousa, I, Stoppioni, V, Sykes, N, Tancredi, R, Thompson, A, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J, Volkmar, F, Vorstman, J, Wallace, S, Wing, K, Wittemeyer, K, Wood, S, Zurawiecki, D, Zwaigenbaum, L, Bailey, A, Battaglia, A, Cantor, R, Coon, H, Cuccaro, M, Dawson, G, Ennis, S, Freitag, C, Geschwind, D, Haines, J, Klauck, S, McMahon, WM, Maestrini, E, Miller, J, Monaco, A, Nelson, S, Nurnberger, J, Oliveira, G, Parr, JR, Pericak-Vance, M, Piven, J, Schellenberg, G, Scherer, S, Vicente, A, Wassink, T, Wijsman, E, Betancur, C, Buxbaum, J, Cook, E, Gallagher, L, Gill, M, Hallmayer, J, Paterson, A, Sutcliffe, J, Szatmari, P, Vieland, V, Hakonarson, H, Devlin, B

العلاقة: https://ora.ox.ac.uk/objects/uuid:44c2b77e-13a4-4af8-b3db-1797e4163125Test; https://doi.org/10.1093/hmg/dds301Test

الإتاحة: https://doi.org/10.1093/hmg/dds301Test
https://ora.ox.ac.uk/objects/uuid:44c2b77e-13a4-4af8-b3db-1797e4163125Test

المؤلفون: Wayne, S, Der Kaloustian, VM, Schloss, M, Polomeno, R, Scott, DA, Hejtmancik, JF, Sheffield, VC, Smith, RJ

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1689Test; http://dx.doi.org/10.1093/hmg/5.10.1689Test

الإتاحة: https://doi.org/10.1093/hmg/5.10.1689Test
http://hmg.oxfordjournals.org/cgi/content/short/5/10/1689Test

المؤلفون: Thompson, S, Foster, R, Stone, E, Sheffield, VC, Mrosovsky, N

العلاقة: https://ora.ox.ac.uk/objects/uuid:ac86ba49-7f7c-4bad-a5e3-29d77067bb3cTest; https://doi.org/10.1111/j.1460-9568.2008.06168.xTest

الإتاحة: https://doi.org/10.1111/j.1460-9568.2008.06168.xTest
https://ora.ox.ac.uk/objects/uuid:ac86ba49-7f7c-4bad-a5e3-29d77067bb3cTest