Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 111 Records) |
| Query Trace: MYOC[original query] |
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| Evaluating correlation between the ocular biometry and genetic variants of MYOC and ABCA1 with primary angle-closure glaucoma in a cohort from northern China. International journal of ophthalmology 2019 12 (8): 1317-1322. Wang Shao-Lin, Piao Shun-Yu, Xu Man-Yun, Zhang Wen, Ma Jian-Qing, Hao Juan, Chi Hao, Xue Zhong-Qi, Ha Shao-Ping, Zhuang Wen-Ju |
| Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. Molecular vision 2019 25 373-381. Hadrami Mouna, Bonnet Crystel, Zeitz Christina, Veten Fatimetou, Biya Med, Hamed Cheikh T, Condroyer Christel, Wang Panfeng, Sidi Med Mahmoud, Cheikh Sidi, Zhang Qingjiong, Audo Isabelle, Petit Christine, Houmeida Ahm |
| 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 |
| 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 |
| 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, |
| 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 |
| The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma. The British journal of ophthalmology 2019 1 103 (10): 1524-1529. Lei Lei, Li Shushan, Liu Xiangyun, Zhang Ch |
| 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 |
| The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma. Eye (London, England) 2020 4 35 (2): 400-408. Gupta Viney, Somarajan Bindu I, Gupta Shikha, Walia Gagandeep Kaur, Singh Abhishek, Sofi Rayees, Chaudhary Richard Sher, Sharma Arundha |
| Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology 2020 2 127 (6): 758-766. Siggs Owen M, Souzeau Emmanuelle, Taranath Deepa A, Dubowsky Andrew, Chappell Angela, Zhou Tiger, Javadiyan Shari, Nicholl Jillian, Kearns Lisa S, Staffieri Sandra E, Narita Andrew, Smith James E H, Pater John, Hewitt Alex W, Ruddle Jonathan B, Elder James E, Mackey David A, Burdon Kathryn P, Craig Jamie |
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, |
| Genetic Determinants of Intraocular Pressure. Annual review of vision science 2021 6 7 727-746. Xu Zihe, Hysi Pirro, Khawaja Anthony |
| 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 |
| Genetic analysis of patients with primary congenital glaucoma. International ophthalmology 2021 Mar . Ava Sedat, Demirta? At?l?m Arma?an, Karahan Mine, Erdem Seyfettin, Oral Diclehan, Keklikçi U? |
| 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, |
| Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities. Genes 2021 11 12 (11): . Tanji Tarin, Cohen Emily, Shen Darrick, Zhang Chi, Yu Fei, Coleman Anne L, Zheng Jie |
| 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 |
| Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis. Ophthalmic genetics 2022 1 43 (2): 240-247. Xie Juan-Juan, Zhang Guo-Wei, Cui Hai-Yue, Li Na, Liu Xing-Xing, Hao Meng-Yao, Wang Shao-Wen, Lu Ho |
| Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms. Endocrine-related cancer 2023 7 . Andreas Venizelos, Halfdan Sorbye, Hege Elvebakken, Aurel Perren, Inger Marie B Lothe, Anne Couvelard, Geir Olav Hjortland, Anna Sundlöv, Johanna Svensson, Harrish Garresori, Christian Kersten, Eva Hofsli, Sönke Detlefsen, Lene W Vestermark, Morten Ladekarl, Elizaveta Mitkina Tabaksblat, Stian Knappsk |
| Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. Journal of current glaucoma practice 2023 7 17 (2): 79-84. Lassina Traoré, Jérôme Sanou, Bélélé S Bakyono, Abdou A Zoure, Théodora M Zohoncon, Hermann K Sombié, Albert T Yonli, Guertrude Meda-Hien, Ezechiel B Tibiri, Florencia W Djigma, Jacques Simpo |
| Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma. Acta ophthalmologica 2023 4 . Liuska Perttu J, Tadji Abdessallam, Repo Pauliina, Hiltunen Juho, Backlund Michael, Järvinen Reetta-Stiina, Ojanen Eeva, Majander Anna, Kivelä Tero T, Harju Mika, Turunen Joni |
| Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration. Genes 2023 2 14 (2): . Narta Kiran, Teltumbade Manoj Ramesh, Vishal Mansi, Sadaf Samreen, Faruq Mohd, Jama Hodan, Waseem Naushin, Rao Aparna, Sen Abhijit, Ray Kunal, Mukhopadhyay Arij |
| Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma. International journal of molecular sciences 2024 9 25 (18): . Goutham Pyatla, Meha Kabra, Anil K Mandal, Wei Zhang, Ashish Mishra, Samir Bera, Sonika Rathi, Satish Patnaik, Alice A Anthony, Ritu Dixit, Seema Banerjee, Konegari Shekhar, Srinivas Marmamula, Inderjeet Kaur, Rohit C Khanna, Subhabrata Chakrabar |
| METTL23 Variants and Patients With Normal-Tension Glaucoma. JAMA ophthalmology 2024 9 . Todd E Scheetz, Mallory R Tollefson, Ben R Roos, Erin A Boese, Andrew E Pouw, Edwin M Stone, Michael J Schnieders, John H Finge |
| Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals. Japanese journal of ophthalmology 2024 8 . Nobuo Fuse, Masae Kimura, Ai Shimizu, Seizo Koshiba, Teruhiko Hamanaka, Makoto Nakamura, Nobuo Ishida, Hiroshi Sakai, Yoko Ikeda, Kazuhiko Mori, Atsushi Endo, Masao Nagasaki, Fumiki Katsuoka, Jun Yasuda, Yoichi Matsubara, Toru Nakazawa, Masayuki Yamamo |
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