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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Research Reports

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients

Paulo Vinicius SvidnickiLaboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering – CBMEG, University of Campinas – UNICAMP, Campinas, SP, BrazilView further author information
,
Carolina Ayumi BraghiniLaboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering – CBMEG, University of Campinas – UNICAMP, Campinas, SP, BrazilView further author information
,
Vital Paulino CostaDepartment of Ophthalmology, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, BrazilView further author information
,
Rui Barroso SchimitiDepartment of Ophthalmology, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil;Glaucoma Service, Hoftalon Hospital, Londrina, PR, BrazilView further author information
,
José Paulo Cabral de VasconcellosDepartment of Ophthalmology, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, BrazilView further author information
&
Mônica Barbosa de MeloLaboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering – CBMEG, University of Campinas – UNICAMP, Campinas, SP, BrazilCorrespondence[email protected]
View further author information
Pages 717-724 | Received 10 Jul 2018, Accepted 04 Nov 2018, Published online: 28 Nov 2018

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Viney Gupta, Bindu I Somarajan, Shikha Gupta, Karthikeyan Mahalingam, Manoj Kumar & Abhishek Singh. (2023) Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome. Ophthalmic Genetics 44:3, pages 281-285.
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Articles from other publishers (12)

Bo Liu, Shaofeng Zhang, Chunyan Liu & Xia Han. (2023) Clinical role of CYP1B1 gene polymorphism in prediction of postoperative chemotherapy efficacy in NSCLC based on individualized health model. Open Life Sciences 18:1.
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Antara Sengupta, Subhadip Chakraborty, Pabitra Pal Choudhury, Swarup Roy, Jayanta Kumar Das, Ditipriya Mallick & Siddhartha S. Jana. (2023) Investigation of codon alternation patterns in two neurodegenerative diseases through numerical representation and codon classification. Gene Reports 31, pages 101771.
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Manoj Yadav, Aarti Bhardwaj, Anshu Yadav, Rima Dada & Mukesh Tanwar. (2023) Molecular genetics of primary open-angle glaucoma. Indian Journal of Ophthalmology 71:5, pages 1739-1756.
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Ruyue Shen, Venice S. W. Li, Mandy O. M. Wong & Poemen P. M. Chan. (2023) Pediatric Glaucoma—From Screening, Early Detection to Management. Children 10:2, pages 181.
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Hailee F. Scelsi, Kamisha R. Hill, Brett M. Barlow, Mackenzie D. Martin & Raquel L. Lieberman. (2023) Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability. Disease Models & Mechanisms 16:1.
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Jessinta Oseni & Daniel Laroche. (2022) Cataract surgery and Hydrus stent implantation in juvenile open-angle glaucoma: A case report. Journal of the National Medical Association.
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Noelia Calero-Dueñas, Milagros Mateos-Olivares, Fernando Ussa, José R. Juberías, Miguel Marcos, Salvador Pastor-Idoate & Ricardo Usategui-Martín. (2022) Polymorphisms in CYP1B1 gene and the risk of suffering Primary Open-Angle Glaucoma: Systematic review and meta-analysis . European Journal of Ophthalmology 32:4, pages 1841-1849.
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Ta C. Chang, Linda Celestin, Elizabeth A. Hodapp, Alana L. Grajewski, Anna Junk, Adam L. Rothman, Eric R.H. Duerr, Swarup S. Swaminathan, Steven J. Gedde, Terri L. Young, Janey Wiggs, Mildred M.G. Olivier, Raquel Quintanilla, Esdras Arrieta, Eleonore J. Savatovsky, Elizabeth A. Vanner & Richard K. Parrish. (2022) Glaucoma Cascade Screening in a High Risk Afro-Caribbean Haitian Population: A Pilot Study. Journal of Glaucoma 31:7, pages 584-589.
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Harathy Selvan, Shikha Gupta, Janey L. Wiggs & Viney Gupta. (2022) Juvenile-onset open-angle glaucoma – A clinical and genetic update. Survey of Ophthalmology 67:4, pages 1099-1117.
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Julia V. Stingl, Stefan Diederich, Heidi Diel, Alexander K. Schuster, Felix M. Wagner, Panagiotis Chronopoulos, Fidan Aghayeva, Franz Grehn, Jennifer Winter, Susann Schweiger & Esther M. Hoffmann. (2021) First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association. Journal of Clinical Medicine 11:1, pages 16.
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Hailee F. Scelsi, Brett M. Barlow, Emily G. Saccuzzo & Raquel L. Lieberman. (2021) Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data. Human Mutation 42:8, pages 903-946.
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Viney Gupta, BinduI Somarajan, Gagandeep Kaur, Shikha Gupta, Renu Singh, Dibyabhaba Pradhan, Harpreet Singh, Punit Kaur, Anshul Sharma, Bindia Chawla, Anisha Pahuja, Rajesh Ramachandran & Arundhati Sharma. (2021) Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma. Indian Journal of Ophthalmology 69:10, pages 2710.
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