HuGE Literature Finder
Records 1-30
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Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
JAMA ophthalmology 2021 Jun . Liuska Perttu J, Lemmelä Susanna, Havulinna Aki S, Kaarniranta Kai, Uusitalo Hannu, Laivuori Hannele, Kiiskinen Tuomo, Daly Mark J, Palotie Aarno, Turunen Joni A, |
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Characteristics of Gln368Ter Myocilin variant and influence of polygenic risk on glaucoma penetrance in the UK Biobank.
Ophthalmology 2021 Mar . Zebardast Nazlee, Sekimitsu Sayuri, Wang Jiali, Elze Tobias, Gharahkhani Puya, Cole Brian S, Lin Michael M, Segrè Ayellet V, Wiggs Janey L, |
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Genetic analysis of patients with primary congenital glaucoma.
International ophthalmology 2021 Mar . Ava Sedat, Demirtas Atilim Armagan, Karahan Mine, Erdem Seyfettin, Oral Diclehan, Keklikçi Ug |
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Nature genetics 2020 Jan . Craig Jamie E, Han Xikun, Qassim Ayub, Hassall Mark, Cooke Bailey Jessica N, Kinzy Tyler G, Khawaja Anthony P, An Jiyuan, Marshall Henry, Gharahkhani Puya, Igo Robert P, Graham Stuart L, Healey Paul R, Ong Jue-Sheng, Zhou Tiger, Siggs Owen, Law Matthew H, Souzeau Emmanuelle, Ridge Bronwyn, Hysi Pirro G, Burdon Kathryn P, Mills Richard A, Landers John, Ruddle Jonathan B, Agar Ashish, Galanopoulos Anna, White Andrew J R, Willoughby Colin E, Andrew Nicholas H, Best Stephen, Vincent Andrea L, Goldberg Ivan, Radford-Smith Graham, Martin Nicholas G, Montgomery Grant W, Vitart Veronique, Hoehn Rene, Wojciechowski Robert, Jonas Jost B, Aung Tin, Pasquale Louis R, Cree Angela Jane, Sivaprasad Sobha, Vallabh Neeru A, , , Viswanathan Ananth C, Pasutto Francesca, Haines Jonathan L, Klaver Caroline C W, van Duijn Cornelia M, Casson Robert J, Foster Paul J, Khaw Peng Tee, Hammond Christopher J, Mackey David A, Mitchell Paul, Lotery Andrew J, Wiggs Janey L, Hewitt Alex W, MacGregor Stua |
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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
Scientific reports 2019 Feb 9 (1): 3100. O'Gorman Luke, Cree Angela J, Ward Daniel, Griffiths Helen L, Sood Roshan, Denniston Alastair K, Self Jay E, Ennis Sarah, Lotery Andrew J, Gibson Ja |
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Myocilin Mutations in Patients With Normal-Tension Glaucoma.
JAMA ophthalmology 2019 Feb . Alward Wallace L M, van der Heide Carly, Khanna Cheryl L, Roos Ben R, Sivaprasad Sobha, Kam Jason, Ritch Robert, Lotery Andrew, Igo Robert P, Cooke Bailey Jessica N, Stone Edwin M, Scheetz Todd E, Kwon Young H, Pasquale Louis R, Wiggs Janey L, Fingert John H, |
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Association of the Myocilin Gene Polymorphism With Primary Open Angle Glaucoma.
Medical hypothesis, discovery & innovation ophthalmology journal 2019 8 (1): 28-33. Derakhshan Akbar, Tavakkol-Afshari Jalil, Sadeghi Allah Abadi Javad, Ansari-Astaneh Mohammad-Reza, Derakhshan Ali Reza, Nikpoor Amin Reza, Shokoohi Rad Sae |
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Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
JAMA ophthalmology 2018 Sep . Han Xikun, Souzeau Emmanuelle, Ong Jue-Sheng, An Jiyuan, Siggs Owen M, Burdon Kathryn P, Best Stephen, Goldberg Ivan, Healey Paul R, Graham Stuart L, Ruddle Jonathan B, Mills Richard A, Landers John, Galanopoulos Anna, White Andrew J R, Casson Robert, Mackey David A, Hewitt Alex W, Gharahkhani Puya, Craig Jamie E, MacGregor Stua |
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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 |
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A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.
PloS one 2018 13 (4): e0195157. Nazir Sabeen, Mukhtar Maryam, Shahnawaz Maryam, Farooqi Shaima, Fatima Naz, Mehmood Rabia, Sheikh Nade |
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Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.
PloS one 2018 13 (11): e0207409. Marques Ana Maria, Ananina Galina, Costa Vital Paulino, Vasconcellos José Paulo Cabral de, de Melo Mônica Barbo |
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Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Ophthalmic genetics 2018 12 39 (6): 717-724. Svidnicki Paulo Vinicius, Braghini Carolina Ayumi, Costa Vital Paulino, Schimiti Rui Barroso, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbo |
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Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Investigative ophthalmology & visual science 2017 Mar 58 (3): 1537-1544. Zhou Tiger, Souzeau Emmanuelle, Siggs Owen M, Landers John, Mills Richard, Goldberg Ivan, Healey Paul R, Graham Stuart, Hewitt Alex W, Mackey David A, Galanopoulos Anna, Casson Robert J, Ruddle Jonathan B, Ellis Jonathan, Leo Paul, Brown Matthew A, MacGregor Stuart, Sharma Shiwani, Burdon Kathryn P, Craig Jamie |
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Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.
Ophthalmology 2016 Dec . Nag Abhishek, Lu Han, Arno Matthew, Iglesias Adriana I, Bonnemaijer Pieter, Broer Linda, Uitterlinden Andre G, Klaver Caroline C W, van Duijn Cornelia, Hysi Pirro G, Hammond Christopher |
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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 |
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Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.
Investigative ophthalmology & visual science 2015 Aug 56 (9): 5087-93. Gharahkhani Puya, Burdon Kathryn P, Hewitt Alex W, Law Matthew H, Souzeau Emmanuelle, Montgomery Grant W, Radford-Smith Graham, Mackey David A, Craig Jamie E, MacGregor Stua |
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Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
European journal of human genetics : EJHG 2015 Jul . Medina-Trillo Cristina, Aroca-Aguilar José-Daniel, Méndez-Hernández Carmen-Dora, Morales Laura, García-Antón Maite, García-Feijoo Julián, Escribano Jul |
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CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
Ophthalmic genetics 2015 Jun 36 (2): 184-7. Abu-Amero Khaled K, Morales Jose, Aljasim Leyla A, Edward Deepak |
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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 |
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MYOC mutations in black south african patients with primary open-angle glaucoma: genetic testing and cascade screening.
Ophthalmic genetics 2015 Mar 36 (1): 31-8. Williams Susan Eileen Isabella, Carmichael Trevor Robin, Wainstein Tasha, Hobbs Angela, Ramsay Miche |
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Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.
Genetic testing and molecular biomarkers 2015 Jan 19 (1): 3-8. Jin Xin, Wang Da-Jiang, Qu Ling-Hui, Hou Bao-Ke, Gong Yan, Xu Wei-W |
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Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.
International journal of clinical and experimental medicine 2015 8 (2): 2052-64. Guo Hui, Li Minghao, Wang Zhe, Liu Qiji, Wu Xin |
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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 |
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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 |
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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Molecular vision 2013 19 1707-22. Millá Elena, Mañé Begoña, Duch Susana, Hernan Imma, Borràs Emma, Planas Ester, Dias Miguel de Sousa, Carballo Miguel, Gamundi María José, |
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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 |
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A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
The British journal of ophthalmology 2012 Sep . Suh W, Kee C |
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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
Molecular vision 2012 18 . Liu W, Liu Y, Challa P, Herndon LW, Wiggs JL, Girkin CA, Allingham RR, Hauser MA |
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Comprehensive analysis of myocilin variants in east Indian POAG patients.
Molecular vision 2012 18 1548-57. Banerjee Deblina, Bhattacharjee Ashima, Ponda Archisman, Sen Abhijit, Ray Kun |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jun 16, 2021
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