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Ophthalmic Genetics Volume 37, 2016 - Issue 1
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Research Reports

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification

Justyna A. KarolakDepartment of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland, ;Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland, and
,
Piotr PolakowskiDepartment of Ophthalmology, Medical University of Warsaw, SPKSO University Ophthalmic Hospital, Warsaw, Poland
,
Jerzy SzaflikDepartment of Ophthalmology, Medical University of Warsaw, SPKSO University Ophthalmic Hospital, Warsaw, Poland
,
Jacek P. SzaflikDepartment of Ophthalmology, Medical University of Warsaw, SPKSO University Ophthalmic Hospital, Warsaw, Poland
&
Marzena GajeckaInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland, and Correspondence[email protected]
Pages 37-43 | Received 10 Feb 2014, Accepted 15 May 2014, Published online: 18 Jun 2014

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Qinghong Lin, Lin Zheng & Zhengwei Shen. (2022) A novel variant in TGFBI causes keratoconus in a two-generation Chinese family. Ophthalmic Genetics 43:2, pages 159-163.
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Avinash M. Veerappa. (2021) Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis. Ophthalmic Genetics 42:2, pages 114-131.
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Hanne Valgaeren, Carina Koppen & Guy Van Camp. (2018) A new perspective on the genetics of keratoconus: why have we not been more successful?. Ophthalmic Genetics 39:2, pages 158-174.
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Joanna Swierkowska & Marzena Gajecka. (2017) Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. Ophthalmic Genetics 38:6, pages 501-510.
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Articles from other publishers (11)

Binbin Chen, Xiaoning Yu, Xin Zhang, Hao Yang, Yilei Cui & Xingchao Shentu. (2022) Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing. Journal of Ophthalmology 2022, pages 1-7.
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Xiao-Dan Hao, Hua Gao, Wen-Hua Xu, Chan Shan, Ying Liu, Zhi-Xia Zhou, Kun Wang & Pei-Feng Li. (2022) Systematically Displaying the Pathogenesis of Keratoconus via Multi-Level Related Gene Enrichment-Based Review. Frontiers in Medicine 8.
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Mariam Lofty Khaled, Yelena Bykhovskaya, Chunfang Gu, Alice Liu, Michelle D. Drewry, Zhong Chen, Barbara A. Mysona, Emily Parker, Ryan P. McNabb, Hongfang Yu, Xiaowen Lu, Jing Wang, Xiaohui Li, Abdulrahman Al-Muammar, Jerome I. Rotter, Louise F. Porter, Amy Estes, Mitchell A. Watsky, Sylvia B. Smith, Hongyan Xu, Khaled K. Abu-Amero, Anthony Kuo, Stephen B. Shears, Yaron S. Rabinowitz & Yutao Liu. (2019) PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Scientific Reports 9:1.
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L. O. Skorodumova, A. V. Belodedova, E. I. Sharova & B. E. Malyugin. (2019) Search for Genetic Markers for Precise Diagnostics of Keratoconus. Biochemistry (Moscow), Supplement Series B: Biomedical Chemistry 13:3, pages 214-227.
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L.O. Skorodumova, A.V. Belodedova, E.I. Sharova & B.E. Malyugin. (2019) Search for genetic markers for precise diagnostics of keratoconus. Biomeditsinskaya Khimiya 65:1, pages 9-20.
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Alexey N Kulikov, Sergey V Churashov, Tatiana A Kamilova & Vladimir A Reituzov. (2017) Molecular genetic aspects of keratoconus pathogenesis. Ophthalmology Reports 10:2, pages 62-71.
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Justyna A. Karolak & Marzena Gajecka. (2016) Genomic strategies to understand causes of keratoconus. Molecular Genetics and Genomics 292:2, pages 251-269.
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Ahmed Mousa, Altaf Kondkar & Khaled K. Abu Amero. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 391 402 .
Arkasubhra Ghosh, Nallathambi Jeyabalan, Rohit Shetty & Rajiv R. Mohan. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 363 374 .
Ariela Gordon-Shaag, Michel Millodot, Einat Shneor & Yutao Liu. (2015) The Genetic and Environmental Factors for Keratoconus. BioMed Research International 2015, pages 1-19.
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Khaled K. Abu-Amero, Abdulrahman M. Al-Muammar & Altaf A. Kondkar. (2014) Genetics of Keratoconus: Where Do We Stand?. Journal of Ophthalmology 2014, pages 1-11.
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