TY - JOUR AU - Ghosheh, F. R. AU - Cremona, F. A. AU - Rapuano, C. J. AU - Cohen, E. J. AU - Ayres, B. D. AU - Hammersmith, K. M. PY - 2008 DA - 2008// TI - Trends in penetrating keratoplasty in the United States 1980-2005 JO - Int Ophthalmol VL - 28 UR - https://doi.org/10.1007/s10792-007-9177-z DO - 10.1007/s10792-007-9177-z ID - Ghosheh2008 ER - TY - STD TI - Wheeler J, Hauser MA, Afshari NA, Allingham RR, Liu Y. The genetics of keratoconus: a review. Reprod Syst Sex Disord. 2012;(Suppl 6). doi:10.4172/2161-038X.S6-001. ID - ref2 ER - TY - JOUR AU - Romero-Jimenez, M. AU - Santodomingo-Rubido, J. AU - Wolffsohn, J. S. PY - 2010 DA - 2010// TI - Keratoconus: a review JO - Cont Lens Anterior Eye VL - 33 UR - https://doi.org/10.1016/j.clae.2010.04.006 DO - 10.1016/j.clae.2010.04.006 ID - Romero-Jimenez2010 ER - TY - JOUR AU - Rabinowitz, Y. S. PY - 1998 DA - 1998// TI - Keratoconus JO - Surv Ophthalmol VL - 42 UR - https://doi.org/10.1016/S0039-6257(97)00119-7 DO - 10.1016/S0039-6257(97)00119-7 ID - Rabinowitz1998 ER - TY - JOUR AU - Gaskin, J. C. F. AU - Patel, D. V. AU - McGhee, C. N. J. PY - 2014 DA - 2014// TI - Acute corneal hydrops in keratoconus-new perspectives JO - Am J Ophthalmol VL - 157 UR - https://doi.org/10.1016/j.ajo.2014.01.017 DO - 10.1016/j.ajo.2014.01.017 ID - Gaskin2014 ER - TY - STD TI - Abu-Amero KK, Al-Muammar AM, Kondkar AA. Genetics of keratoconus: where do we stand? J Ophthalmol. 2014. doi:10.1155/2014/641708. ID - ref6 ER - TY - JOUR AU - Wang, Y. AU - Rabinowitz, Y. AU - Rotter, J. H. Y. PY - 2000 DA - 2000// TI - Genetic epidemiological study of keratoconus: evidence for major gene determination JO - Am J Med Genet VL - 93 UR - https://doi.org/3.0.CO;2-A DO - 3.0.CO;2-A ID - Wang2000 ER - TY - JOUR AU - Karimian, F. AU - Aramesh, S. AU - Rabei, H. M. AU - Javadi, M. A. AU - Rafati, N. PY - 2008 DA - 2008// TI - Topographic evaluation of relatives of patients with keratoconus JO - Cornea VL - 27 UR - https://doi.org/10.1097/ICO.0b013e31816f5edc DO - 10.1097/ICO.0b013e31816f5edc ID - Karimian2008 ER - TY - JOUR AU - Georgiou, T. AU - Funnell, C. L. AU - Cassels-Brown, A. AU - O’Conor, R. PY - 2004 DA - 2004// TI - Influence of ethnic origin on the incidence of keratoconus and associated atopic disease in Asians and white patients JO - Eye VL - 18 UR - https://doi.org/10.1038/sj.eye.6700652 DO - 10.1038/sj.eye.6700652 ID - Georgiou2004 ER - TY - JOUR AU - Buehren, J. AU - Kook, D. AU - Yoon, G. AU - Kohnen, T. PY - 2010 DA - 2010// TI - Detection of subclinical keratoconus by using corneal anterior and posterior surface aberrations and thickness spatial profiles JO - Invest Ophthalmol Vis Sci VL - 51 UR - https://doi.org/10.1167/iovs.09-4960 DO - 10.1167/iovs.09-4960 ID - Buehren2010 ER - TY - JOUR AU - Abu-Amero, K. K. AU - Kondkar, A. A. AU - Azad, T. A. AU - Sultan, T. AU - Kalantan, H. AU - Al-Muammar, A. M. PY - 2014 DA - 2014// TI - Keratoconus is associated with increased copy number of mitochondrial DNA JO - Mol Vis VL - 20 ID - Abu-Amero2014 ER - TY - JOUR AU - Mikami, T. AU - Meguro, A. AU - Teshigawara, T. AU - Takeuchi, M. AU - Uemoto, R. AU - Kawagoe, T. PY - 2013 DA - 2013// TI - Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population JO - Mol Vis VL - 19 ID - Mikami2013 ER - TY - JOUR AU - Bisceglia, L. AU - Ciaschetti, M. AU - De Bonis, P. AU - Campo, P. A. P. AU - Pizzicoli, C. AU - Scala, C. PY - 2005 DA - 2005// TI - VSX1 mutational analysis in a series of Italian patients affected by keratoconus: Detection of a novel mutation JO - Invest Ophthalmol Vis Sci VL - 46 UR - https://doi.org/10.1167/iovs.04-0533 DO - 10.1167/iovs.04-0533 ID - Bisceglia2005 ER - TY - JOUR AU - Saee-Rad, S. AU - Hashemi, H. AU - Miraftab, M. AU - Noori-Daloii, M. R. AU - Chaleshtori, M. H. AU - Raoofian, R. PY - 2011 DA - 2011// TI - Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus JO - Mol Vis VL - 17 ID - Saee-Rad2011 ER - TY - JOUR AU - Lu, Y. AU - Vitart, V. AU - Burdon, K. P. AU - Khor, C. C. AU - Bykhovskaya, Y. AU - Mirshahi, A. PY - 2013 DA - 2013// TI - Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus JO - Nat Genet VL - 45 UR - https://doi.org/10.1038/ng.2506 DO - 10.1038/ng.2506 ID - Lu2013 ER - TY - JOUR AU - Hughes, A. E. AU - Bradley, D. T. AU - Campbell, M. AU - Lechner, J. AU - Dash, D. P. AU - Simpson, D. A. PY - 2011 DA - 2011// TI - Mutation altering the miR-184 seed region causes familial keratoconus with cataract JO - Am J Hum Genet VL - 89 UR - https://doi.org/10.1016/j.ajhg.2011.09.014 DO - 10.1016/j.ajhg.2011.09.014 ID - Hughes2011 ER - TY - JOUR AU - Lechner, J. AU - Porter, L. F. AU - Rice, A. AU - Vitart, V. AU - Armstrong, D. J. AU - Schorderet, D. F. PY - 2014 DA - 2014// TI - Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus JO - Hum Mol Genet VL - 23 UR - https://doi.org/10.1093/hmg/ddu253 DO - 10.1093/hmg/ddu253 ID - Lechner2014 ER - TY - JOUR AU - Rosenfeld, J. A. AU - Drautz, J. M. AU - Clericuzio, C. L. AU - Cushing, T. AU - Raskin, S. AU - Martin, J. PY - 2011 DA - 2011// TI - Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes JO - Am J Med Genet A VL - 155A UR - https://doi.org/10.1002/ajmg.a.34100 DO - 10.1002/ajmg.a.34100 ID - Rosenfeld2011 ER - TY - JOUR AU - Wojcik, K. A. AU - Kaminska, A. AU - Blasiak, J. AU - Szaflik, J. AU - Szaflik, J. P. PY - 2013 DA - 2013// TI - Oxidative stress in the pathogenesis of keratoconus and fuchs endothelial corneal dystrophy JO - Int J Mol Sci VL - 14 UR - https://doi.org/10.3390/ijms140919294 DO - 10.3390/ijms140919294 ID - Wojcik2013 ER - TY - JOUR AU - Kenney, M. C. AU - Chwa, M. AU - Atilano, S. R. AU - Tran, A. AU - Carballo, M. AU - Saghizadeh, M. PY - 2005 DA - 2005// TI - Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder JO - Invest Ophthalmol Vis Sci VL - 46 UR - https://doi.org/10.1167/iovs.04-0549 DO - 10.1167/iovs.04-0549 ID - Kenney2005 ER - TY - JOUR AU - Chwa, M. AU - Atilano, S. R. AU - Hertzog, D. AU - Zheng, H. AU - Langberg, J. AU - Kim, D. W. PY - 2008 DA - 2008// TI - Hypersensitive response to oxidative stress in keratoconus corneal fibroblasts JO - Invest Ophthalmol Vis Sci VL - 49 UR - https://doi.org/10.1167/iovs.08-1969 DO - 10.1167/iovs.08-1969 ID - Chwa2008 ER - TY - JOUR AU - Xiao-Dan, H. AU - Peng, C. AU - Ye, W. AU - Su-Xia, L. AU - Li-Xin, X. PY - 2015 DA - 2015// TI - Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population JO - Exp Eye Res VL - 132 UR - https://doi.org/10.1016/j.exer.2015.01.016 DO - 10.1016/j.exer.2015.01.016 ID - Xiao-Dan2015 ER - TY - JOUR AU - Teri, M. PY - 2010 DA - 2010// TI - Genomewide association studies and assessment of the risk of disease JO - N Engl J Med VL - 363 UR - https://doi.org/10.1056/NEJMra0905980 DO - 10.1056/NEJMra0905980 ID - Teri2010 ER - TY - JOUR AU - Li, X. AU - Bykhovskaya, Y. AU - Haritunians, T. AU - Siscovick, D. AU - Aldave, A. AU - Szczotka-Flynn, L. PY - 2012 DA - 2012// TI - A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries JO - Hum Mol Genet VL - 21 UR - https://doi.org/10.1093/hmg/ddr460 DO - 10.1093/hmg/ddr460 ID - Li2012 ER - TY - JOUR AU - Hughes, A. E. AU - Dash, D. P. AU - Jackson, A. J. AU - Frazer, D. G. AU - Silvestri, G. PY - 2003 DA - 2003// TI - Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes JO - Invest Ophthalmol Vis Sci VL - 44 UR - https://doi.org/10.1167/iovs.03-0399 DO - 10.1167/iovs.03-0399 ID - Hughes2003 ER - TY - JOUR AU - Tyynismaa, H. AU - Sistonen, P. AU - Tuupanen, S. AU - Tervo, T. AU - Dammert, A. AU - Latvala, T. PY - 2002 DA - 2002// TI - A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families JO - Invest Ophthalmol Vis Sci VL - 43 ID - Tyynismaa2002 ER - TY - JOUR AU - Tang, Y. M. G. AU - Rabinowitz, Y. S. AU - Taylor, K. D. AU - Li, X. H. AU - Hu, M. S. AU - Picornell, Y. PY - 2005 DA - 2005// TI - Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1 JO - Genet Med VL - 7 UR - https://doi.org/10.1097/01.GIM.0000170772.41860.54 DO - 10.1097/01.GIM.0000170772.41860.54 ID - Tang2005 ER - TY - JOUR AU - Mok, J. -. W. AU - Baek, S. -. J. AU - Joo, C. -. K. PY - 2008 DA - 2008// TI - VSX1 gene variants are associated with keratoconus in unrelated Korean patients JO - J Hum Genet VL - 53 UR - https://doi.org/10.1007/s10038-008-0319-6 DO - 10.1007/s10038-008-0319-6 ID - Mok2008 ER - TY - JOUR AU - Gajecka, M. AU - Radhakrishna, U. AU - Winters, D. AU - Nath, S. K. AU - Rydzanicz, M. AU - Ratnamala, U. PY - 2009 DA - 2009// TI - Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32 JO - Invest Ophthalmol Vis Sci VL - 50 UR - https://doi.org/10.1167/iovs.08-2173 DO - 10.1167/iovs.08-2173 ID - Gajecka2009 ER - TY - JOUR AU - Czugala, M. AU - Karolak, J. A. AU - Nowak, D. M. AU - Polakowski, P. AU - Pitarque, J. AU - Molinari, A. PY - 2012 DA - 2012// TI - Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus JO - Eur J Hum Genet VL - 20 UR - https://doi.org/10.1038/ejhg.2011.203 DO - 10.1038/ejhg.2011.203 ID - Czugala2012 ER - TY - JOUR AU - Aligianis, I. A. AU - Johnson, C. A. AU - Gissen, P. AU - Chen, D. R. AU - Hampshire, D. AU - Hoffmann, K. PY - 2005 DA - 2005// TI - Mutations of the catalytic subunit of RAB3GAP cause Warburg micro syndrome JO - Nat Genet VL - 37 UR - https://doi.org/10.1038/ng1517 DO - 10.1038/ng1517 ID - Aligianis2005 ER - TY - JOUR AU - Bem, D. AU - Yoshimura, S. -. I. AU - Nunes-Bastos, R. AU - Bond, F. F. AU - Kurian, M. A. AU - Rahman, F. PY - 2011 DA - 2011// TI - Loss-of-function mutations in RAB18 cause Warburg micro syndrome JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2011.03.012 DO - 10.1016/j.ajhg.2011.03.012 ID - Bem2011 ER - TY - JOUR AU - Burdon, K. P. AU - Macgregor, S. AU - Bykhovskaya, Y. AU - Javadiyan, S. AU - Li, X. AU - Laurie, K. J. PY - 2011 DA - 2011// TI - Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus JO - Invest Ophthalmol Vis Sci VL - 52 UR - https://doi.org/10.1167/iovs.11-8261 DO - 10.1167/iovs.11-8261 ID - Burdon2011 ER - TY - STD TI - Sahebjada S, Schache M, Richardson AJ, Snibson G, Daniell M, Baird PN. Association of the hepatocyte growth factor gene with keratoconus in an Australian population. PLoS One. 2014;9(1). doi:10.1371/journal.pone.0084067. ID - ref34 ER - TY - JOUR AU - Schache, M. AU - Chen, C. Y. AU - Dirani, M. AU - Baird, P. N. PY - 2009 DA - 2009// TI - The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population JO - Mol Vis VL - 15 ID - Schache2009 ER - TY - JOUR AU - Yang, X. AU - Liu, X. AU - Peng, J. AU - Zheng, H. AU - Lu, F. AU - Gong, B. PY - 2014 DA - 2014// TI - Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population JO - Genet Test Mol Biomarkers VL - 18 UR - https://doi.org/10.1089/gtmb.2013.0479 DO - 10.1089/gtmb.2013.0479 ID - Yang2014 ER - TY - JOUR AU - Sherwin, T. AU - Brookes, N. H. PY - 2004 DA - 2004// TI - Morphological changes in keratoconus: pathology or pathogenesis JO - Clin Exp Ophthalmol VL - 32 UR - https://doi.org/10.1111/j.1442-9071.2004.00805.x DO - 10.1111/j.1442-9071.2004.00805.x ID - Sherwin2004 ER - TY - JOUR AU - Cohen, E. J. PY - 2009 DA - 2009// TI - Keratoconus and normal-tension glaucoma: a study of the possible association with abnormal biomechanical properties as measured by corneal hysteresis (An AOS Thesis) JO - Trans Am Ophthalmol Soc VL - 107 ID - Cohen2009 ER - TY - JOUR AU - Sahebjada, S. AU - Schache, M. AU - Richardson, A. J. AU - Snibson, G. AU - MacGregor, S. AU - Daniell, M. PY - 2013 DA - 2013// TI - Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population JO - Invest Ophthalmol Vis Sci VL - 54 UR - https://doi.org/10.1167/iovs.13-12982 DO - 10.1167/iovs.13-12982 ID - Sahebjada2013 ER - TY - STD TI - Hao XD, Chen P, Chen ZL, Li SX, Wang Y. Evaluating the association between keratoconus and reported genetic loci in a Han Chinese population. Ophthalmic Genet. 2015:1-5. doi:10.3109/13816810.2015.1005317. ID - ref40 ER - TY - JOUR AU - Bykhovskaya, Y. AU - Li, X. AU - Epifantseva, I. AU - Haritunians, T. AU - Siscovick, D. AU - Aldave, A. PY - 2012 DA - 2012// TI - Variation in the Lysyl Oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies JO - Invest Ophthalmol Vis Sci VL - 53 UR - https://doi.org/10.1167/iovs.11-9268 DO - 10.1167/iovs.11-9268 ID - Bykhovskaya2012 ER - TY - JOUR AU - Abu-Amero, K. K. AU - Azad, T. A. AU - Sultan, T. AU - Kalantan, H. AU - Kondkar, A. A. AU - Al-Muammar, A. M. PY - 2014 DA - 2014// TI - Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients JO - Invest Ophthalmol Vis Sci VL - 55 UR - https://doi.org/10.1167/iovs.14-14300 DO - 10.1167/iovs.14-14300 ID - Abu-Amero2014 ER - TY - JOUR AU - Abu-Amero, K. K. AU - Kalantan, H. AU - Al-Muammar, A. M. PY - 2011 DA - 2011// TI - Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia JO - Mol Vis VL - 17 ID - Abu-Amero2011 ER - TY - STD TI - Al-Muammar AM, Kalantan H, Azad TA, Sultan T, Abu-Amero KK. Analysis of the SOD1 Gene in keratoconus patients from Saudi Arabia. Ophthalmic G enet. 2014. doi:10.3109/13816810.2014.889173 ID - ref44 ER - TY - BOOK AU - Rosner, B. PY - 2006 DA - 2006// TI - Fundamentals of biostatistics PB - Duxbury Press CY - Belmont, CA ID - Rosner2006 ER - TY - JOUR AU - Liu, Y. AU - Hauser, M. A. AU - Akafo, S. K. AU - Qin, X. AU - Miura, S. AU - Gibson, J. R. PY - 2013 DA - 2013// TI - Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry JO - Invest Ophthalmol Vis Sci VL - 54 UR - https://doi.org/10.1167/iovs.13-12779 DO - 10.1167/iovs.13-12779 ID - Liu2013 ER - TY - JOUR AU - Gauderman, W. J. PY - 2003 DA - 2003// TI - Candidate gene association analysis for a quantitative trait, using parent-offspring trios JO - Genet Epidemiol VL - 25 UR - https://doi.org/10.1002/gepi.10262 DO - 10.1002/gepi.10262 ID - Gauderman2003 ER -