HuGE Literature Finder
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| Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China. Neurobiology of aging 2020 Aug . Yang Lu, Cheng Yanfei, Jia Xinmiao, Liu Xudong, Li Xiuli, Zhang Kang, Shen Dongchao, Liu Mingsheng, Guan Yuzhou, Liu Qing, Cui Liying, Li Xiaogua |
| Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. Systems biology in reproductive medicine 2019 4 65 (3): 258-263. Ji Xingzhe, Zhang Zhou, Shi Juanzi, He B |
| Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients. Disease markers 2019 2019 5820537. He Jing Na, Lu Shiyao, Chen Li Jia, Tam Pancy Oi Sin, Zhang Bi Ning, Leung Christopher Kai Shun, Pang Chi Pui, Tham Clement Chee Yung, Chu Wai K |
| Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing. Scientific reports 2018 Mar 8 (1): 4498. Huang Chukai, Xie Lijing, Wu Zhenggen, Cao Yingjie, Zheng Yuqian, Pang Chi-Pui, Zhang Mingz |
| A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family. International journal of ophthalmology 2018 3 11 (3): 369-374. Yao Yi-Hua, Wang Ya-Qin, Fang Wei-Fang, Zhang Liu, Yang Ju-Hua, Zhu Yi-H |
| Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients. Molecular medicine reports 2016 Sep 14 (3): 2439-48. Park Joonhong, Kim Myungshin, Park Chan Kee, Chae Hyojin, Lee Seungok, Kim Yonggoo, Jang Woori, Chi Hyun Young, Park Hae-Young Lopilly, Park Shin H |
| SQSTM1 Mutations and Glaucoma. PloS one 2016 11 (6): e0156001. Scheetz Todd E, Roos Ben R, Solivan-Timpe Frances, Miller Kathy, DeLuca Adam P, Stone Edwin M, Kwon Young H, Alward Wallace L M, Wang Kai, Fingert John |
| Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine 2015 Nov 3 (6): 490-9. Schilter Kala F, Reis Linda M, Sorokina Elena A, Semina Elena |
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
Human molecular genetics 2015 May 24 (9): 2689-99. Springelkamp Henriët, Iglesias Adriana I, Cuellar-Partida Gabriel, Amin Najaf, Burdon Kathryn P, van Leeuwen Elisabeth M, Gharahkhani Puya, Mishra Aniket, van der Lee Sven J, Hewitt Alex W, Rivadeneira Fernando, Viswanathan Ananth C, Wolfs Roger C W, Martin Nicholas G, Ramdas Wishal D, van Koolwijk Leonieke M, Pennell Craig E, Vingerling Johannes R, Mountain Jenny E, Uitterlinden André G, Hofman Albert, Mitchell Paul, Lemij Hans G, Wang Jie Jin, Klaver Caroline C W, Mackey David A, Craig Jamie E, van Duijn Cornelia M, MacGregor Stua |
| DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Investigative ophthalmology & visual science 2014 Dec 55 (12): 8251-8. Liu Yutao, Garrett Melanie E, Yaspan Brian L, Bailey Jessica Cooke, Loomis Stephanie J, Brilliant Murray, Budenz Donald L, Christen William G, Fingert John H, Gaasterland Douglas, Gaasterland Terry, Kang Jae H, Lee Richard K, Lichter Paul, Moroi Sayoko E, Realini Anthony, Richards Julia E, Schuman Joel S, Scott William K, Singh Kuldev, Sit Arthur J, Vollrath Douglas, Weinreb Robert, Wollstein Gadi, Zack Donald J, Zhang Kang, Pericak-Vance Margaret A, Haines Jonathan L, Pasquale Louis R, Wiggs Janey L, Allingham R Rand, Ashley-Koch Allison E, Hauser Michael |
| Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma. Investigative ophthalmology & visual science 2014 Jun 55 (6): 3594-602. Huang Xiaobo, Li Miaoling, Guo Xiangming, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Liu Xing, Zhang Qingjio |
| Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Neurobiology of aging 2012 Dec 33 (12): 2948.e15-7. Johnson Lauren, Miller Jack W, Gkazi Athina Soragia, Vance Caroline, Topp Simon D, Newhouse Stephen J, Al-Chalabi Ammar, Smith Bradley N, Shaw Christopher |
| Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population. Experimental eye research 2012 Nov . Buentello-Volante B, Elizondo-Olascoaga C, Miranda-Duarte A, Guadarrama-Vallejo D, Cabral-Macias J, Zenteno JC |
| Clinical implications of old and new genes for open-angle glaucoma. Ophthalmology 2011 Dec 118 (12): 2389-97. Ramdas Wishal D, van Koolwijk Leonieke M E, Cree Angela J, Janssens A Cecile J W, Amin Najaf, de Jong Paulus T V M, Wolfs Roger C W, Gibson Jane, Kirwan James F, Hofman Albert, Rivadeneira Fernando, Oostra Ben A, Uitterlinden André G, Ennis Sarah, Lotery Andrew J, Lemij Hans G, Klaver Caroline C W, Vingerling Johannes R, Jansonius Nomdo M, van Duijn Cornelia |
| Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2011 Nov 82 (11): 1239-43. Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi G P, Silani V, |
| Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiology of aging 2011 Mar 32 (3): 555.e13-4. Belzil Véronique V, Daoud Hussein, Desjarlais Anne, Bouchard Jean-Pierre, Dupré Nicolas, Camu William, Dion Patrick A, Rouleau Guy |
| WDR36 variants in East Indian primary open-angle glaucoma patients. Molecular vision 2011 17 2618-27. Mookherjee Suddhasil, Chakraborty Subhadip, Vishal Mansi, Banerjee Deblina, Sen Abhijit, Ray Kun |
| Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. Journal of human genetics 2010 Oct 55 (10): 697-700. McDonald Kristin K, Abramson Karen, Beltran Marco A, Ramirez Maria G, Alvarez Miguel, Ventura Alice, Santiago-Turla Cecilia, Schmidt Silke, Hauser Michael A, Allingham R Ra |
| Meta-analysis of association between optineurin gene and primary open-angle glaucoma. Medical science monitor : international medical journal of experimental and clinical research 2010 Aug 16 (8): CR369-77. Cheng Jin-Wei, Li Ping, Wei Rui- |
| Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. Ophthalmic genetics 2009 Mar 30 (1): 13-8. Caixeta-Umbelino Cristiano, de Vasconcellos José Paulo Cabral, Costa Vital Paulino, Kasahara Niro, Della Paolera Maurício, de Almeida Geraldo Vicente, Cohen Ralph, Mandia Carmo, Rocha Mylene Neves, Richeti Flávio, Longui Carlos Alberto, de Melo Mônica Barbo |
| Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC medical genetics 2009 10 91. Wolf Christiane, Gramer Eugen, Müller-Myhsok Bertram, Pasutto Francesca, Reinthal Eva, Wissinger Bernd, Weisschuh Nico |
| Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese. Molecular vision 2009 15 89-98. Jia Li-Yun, Tam Pancy Oi-Sin, Chiang Sylvia Wai-Yee, Ding Ning, Chen Li Jia, Yam Gary Hin-Fai, Pang Chi-Pui, Wang Ning- |
| Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma. Molecular vision 2008 14 487-94. Yen Yung-Chang, Yang Jiann-Jou, Chou Ming-Chih, Li Shuan-Y |
| Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. Molecular vision 2007 13 (): 779-84. Fan Bao Jian, Ko Wendy Charles, Wang Dan Yi, Canlas Oscar, Ritch Robert, Lam Dennis S C, Pang Chi P |
| Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Molecular vision 2007 13 (): 667-76. Kumar Arun, Basavaraj Manjunath G, Gupta Santosh K, Qamar Imteyaz, Ali Abdullah Mahmood, Bajaj Vineeta, Ramesh T K, Prakash D Ravi, Shetty Jyoti S, Dorairaj Syril |
| Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Molecular vision 2007 13 862-72. Lopez-Martinez Francisco, Lopez-Garrido Maria-Pilar, Sanchez-Sanchez Francisco, Campos-Mollo Ezequiel, Coca-Prados Miguel, Escribano Jul |
| Variation in optineurin (OPTN) allele frequencies between and within populations. Molecular vision 2007 13 (): 151-63. 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 |
| SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma. Investigative ophthalmology & visual science 2006 Dec 47 (12): 5368-75. Funayama Tomoyo, Mashima Yukihiko, Ohtake Yuichiro, Ishikawa Karin, Fuse Nobuo, Yasuda Noriko, Fukuchi Takeo, Murakami Akira, Hotta Yoshihiro, Shimada Naoki, |
| Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. Journal of glaucoma 2006 Oct 15 (5): 358-63. Hauser Michael A, Sena Dayse Figueiredo, Flor Jason, Walter Jeff, Auguste Josette, Larocque-Abramson Karen, Graham Felicia, Delbono Elizabeth, Haines Jonathan L, Pericak-Vance Margaret A, Rand Allingham R, Wiggs Janey |
| OPTN gene: profile of patients with glaucoma from India. Molecular vision 2006 12 (): 816-20. Sripriya S, Nirmaladevi J, George R, Hemamalini A, Baskaran M, Prema R, Ve Ramesh S, Karthiyayini T, Amali J, Job S, Vijaya L, Kumaramanickavel |
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- Page last updated:Mar 21, 2023
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