Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 49 Records) |
| Query Trace: Disease and MYOC[original query] |
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| 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 |
| 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 |
| Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. Clinical genetics 2008 Jul 74 (1): 82-7. Sivadorai P, Cherninkova S, Bouwer S, Kamenarova K, Angelicheva D, Seeman P, Hollingsworth K, Mihaylova V, Oscar A, Dimitrova G, Kaneva R, Tournev I, Kalaydjieva |
| CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Archives of ophthalmology (Chicago, Ill. : 1960) 2008 Oct 126 (10): 1443-7. Chen Yuhong, Jiang Deke, Yu Long, Katz Bradley, Zhang Kang, Wan Bo, Sun Xinghu |
| 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- |
| [Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg]. Genetika 2009 Dec 45 (12): 1659-67. Motushchuk A E, Komarova T Iu, Grudinina N A, Rakhmanov V V, Mandel'shtam M Iu, Astakhov Iu S, Vasil'ev V |
| Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma. Ophthalmic genetics 2011 Mar 32 (1): 18-23. Kasahara Niro, Caixeta-Umbelino Cristiano, Paolera Maurício D, Rocha Mylene N, Richeti Flávio, Vasconcellos José P C, Cohen Ralph, Costa Vital P, Longui Carlos A, Melo Murilo R, Melo Mônica |
| MYOC and FOXC1 gene analysis in primary congenital glaucoma. Molecular vision 2010 16 1996-2006. Tanwar Mukesh, Kumar Manoj, Dada Tanuj, Sihota Ramanjit, Dada Ri |
| 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 |
| A clinical and molecular genetics study of primary congenital glaucoma in South Korea. The British journal of ophthalmology 2012 Sep . Suh W, Kee C |
| 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 |
| 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 |
| Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma. Molecular vision 2013 19 . Mohanty K, Tanwar M, Dada R, Dada T |
| 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 |
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 |
| Study of MYOC Gene Mutation in POAG Patients in Zahedan, Iran. Clinical laboratory 2017 8 63 (7): 1283-1291. Narooie-Nejad Mehrnaz, Rasouli Ava, Mousavi Mahdieh, Rohani Mohammad |
| 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 |
| 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 |
| Congenital glaucoma and CYP1B1: an old story revisited. Human genetics 2018 3 138 (8-9): 1043-1049. Alsaif Hessa S, Khan Arif O, Patel Nisha, Alkuraya Hisham, Hashem Mais, Abdulwahab Firdous, Ibrahim Niema, Aldahmesh Mohammed A, Alkuraya Fowzan |
| 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 |
| Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing. Molecular vision 2020 26 378-391. Liu Ting, Tang Chao, Shi Xiaolo |
| 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 |
| CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma. The British journal of ophthalmology 2021 9 107 (2): 227-233. Kaushik Sushmita, Luthra-Guptasarma Manni, Prasher Dimple, Dhingra Deepika, Singh Nirbhai, Kumar Aman, Sharma Surya Prakash, Kaur Harpreet, Snehi Sagarika, Thattaruthody Faisal, Pandav Surinder Sin |
| Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA ophthalmology 2021 7 139 (9): 1023-1028. Siggs Owen M, Han Xikun, Qassim Ayub, Souzeau Emmanuelle, Kuruvilla Shilpa, Marshall Henry N, Mullany Sean, Mackey David A, Hewitt Alex W, Gharahkhani Puya, MacGregor Stuart, Craig Jamie |
| 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, |
| Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2021 4 10 (2): 173-182. Li Xueqing, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
| MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal. Acta medica portuguesa 2021 3 34 (9): 586-591. Silva Filipe, Ferreira Filipa, Faria Pedro, Sobral Isa, Rodrigues Mariana, Pratas João, Silva João Filipe, Grazina Manuela, Moura Pereira José, Girão Henrique, Pereira Pau |
| Characteristics of p.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, |
| Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability. Disease models & mechanisms 2022 12 16 (1): . Scelsi Hailee F, Hill Kamisha R, Barlow Brett M, Martin Mackenzie D, Lieberman Raquel |
| PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE. Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti 2022 10 78 (5): 242-248. Vergaro A, Rezková L, Fichtl M, Jedli?ková J, ?u?áková ?, R?ži?ková E, Lišková |
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