HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| 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, |
| 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? |
| 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 |
| 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 |
| 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 |
| Genetic Determinants of Intraocular Pressure. Annual review of vision science 2021 6 7 727-746. Xu Zihe, Hysi Pirro, Khawaja Anthony |
| 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 |
| 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 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbo |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 28, 2023
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