Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Keratoconus[original query] |
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Influence of interleukin 17 A and 17 F polymorphisms in keratoconus. Molecular biology reports 2021 Sep . Gomes Isabela Bronchtein, Ayo Christiane Maria, Lopes Alessandro Garcia, Kumano Laurie Sayuri, de Faria Junior Geraldo Magela, de Almeida Gildásio Castello, Castiglioni Lilian, de Mattos Luiz Carlos, Brandão Cinara Cáss |
Whole mitochondrial genome analysis in Chinese patients with keratoconus. Molecular vision 2021 5 27 270-282. Xu Liyan, Yang Kaili, Fan Qi, Zhao Dongqing, Pang Chenjiu, Ren Shengw |
Evaluating the association between single nucleotide polymorphisms in the stonin 2 (STON2) gene and keratoconus in a Han Chinese population. Annals of translational medicine 2021 Apr 9 (8): 616. Zhang Jing, Li Yue, Dai Yiqin, Xu Jianjia |
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis. Ophthalmic genetics 2021 5 42 (5): 503-513. Harati-Sadegh Mahdiyeh, Sargazi Saman, Khorasani Milad, Ansari-Moghaddam Alireza, Mirinejad Shekoufeh, Sheervalilou Roghayeh, Saravani Ram |
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. BMC ophthalmology 2021 4 21 (1): 191. Ahmed Asif Naveed, Tahir Raheel, Khan Niamat, Ahmad Mushtaq, Dawood Muhammad, Basit Abdul, Yasin Muhammad, Nowshid Maha, Marwan Muhammad, Sultan Komal, Saleha Sham |
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Communications biology 2021 Mar 4 (1): 266. Hardcastle Alison J, Liskova Petra, Bykhovskaya Yelena, McComish Bennet J, Davidson Alice E, Inglehearn Chris F, Li Xiaohui, Choquet Hélène, Habeeb Mahmoud, Lucas Sionne E M, Sahebjada Srujana, Pontikos Nikolas, Lopez Karla E Rojas, Khawaja Anthony P, Ali Manir, Dudakova Lubica, Skalicka Pavlina, Van Dooren Bart T H, Geerards Annette J M, Haudum Christoph W, Faro Valeria Lo, Tenen Abi, Simcoe Mark J, Patasova Karina, Yarrand Darioush, Yin Jie, Siddiqui Salina, Rice Aine, Farraj Layal Abi, Chen Yii-Der Ida, Rahi Jugnoo S, Krauss Ronald M, Theusch Elisabeth, Charlesworth Jac C, Szczotka-Flynn Loretta, Toomes Carmel, Meester-Smoor Magda A, Richardson Andrea J, Mitchell Paul A, Taylor Kent D, Melles Ronald B, Aldave Anthony J, Mills Richard A, Cao Ke, Chan Elsie, Daniell Mark D, Wang Jie Jin, Rotter Jerome I, Hewitt Alex W, MacGregor Stuart, Klaver Caroline C W, Ramdas Wishal D, Craig Jamie E, Iyengar Sudha K, O'Brart David, Jorgenson Eric, Baird Paul N, Rabinowitz Yaron S, Burdon Kathryn P, Hammond Chris J, Tuft Stephen J, Hysi Pirro |
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. European journal of human genetics : EJHG 2021 3 29 (12): 1745-1755. Fransen Erik, Valgaeren Hanne, Janssens Katleen, Sommen Manou, De Ridder Raphael, Vandeweyer Geert, Bisceglia Luigi, Soler Vincent, Hoischen Alexander, Mortier Geert, Malecaze François, Koppen Carina, Van Camp G |
Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients. Korean journal of ophthalmology : KJO 2021 Feb . Mok Jee-Won, So Ha-Rim, Ha Min-Ji, Na Kyung-Sun, Joo Choun- |
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family. Ophthalmic genetics 2021 12 43 (2): 159-163. Lin Qinghong, Zheng Lin, Shen Zhengw |
Association of IL4 rs2070874, FoxP3 rs3761548 Polymorphisms with Keratoconus in Algeria. Journal of ophthalmic & vision research 0 16 (4): 558-565. Meteoukki Wafaa, Fodil Mostefa, Negaz Nawel Adda, Rahmoun Nesrine, Hetraf Sarah Lardjam, Djellouli Hadjira Ouhaibi, Messal Ahlem Djelti, Abdi Meriem, Aberkane Meriem Samia, Chiali Abdelillah, Derdour Amine, Idder Aicha, -Fodil Faouzia Zema |
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus. Ophthalmic genetics 2021 11 43 (1): 73-79. Lopes Alessandro Garcia, de Almeida Gildásio Castello, Miola Marcos Paulo, Teixeira Ronan Marques, Pires Francielly Camilla Bazilio Laurindo, Miani Rodolfo Andrade, de Mattos Luiz Carlos, Brandão Cinara Cássia, Castiglioni Lili |
OP-3?Personalised model to predict keratoconus progression from demographic, topographic and genetic data. BMJ open ophthalmology 2022 9 7 (Suppl 1): A1-A2. Li Olivia, Maile Howard P, Fortune Mary D, Royston Patrick J, Leucci Marcello T, Allan Bruce D, Hardcastle Alison J, Hysi Pirro, Pontikos Nikolas, Tuft Stephen J, Gore Daniel |
Thyroid gland dysfunction and vitamin D receptor gene polymorphism in keratoconus. Eye (London, England) 2022 Aug . Awad Eman A, Torky Magda A, Bassiouny Rania M, Khattab Abeer M, Elzehery Rasha R, Elhelaly Rania |
Non-genetic risk factors for keratoconus. Clinical & experimental optometry 2022 5 1-11. Song Minji, Fang Qing Yi, Seth Ishith, Baird Paul N, Daniell Mark D, Sahebjada Sruja |
Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data. American journal of ophthalmology 2022 4 240 321-329. Maile Howard P, Li Ji-Peng Olivia, Fortune Mary D, Royston Patrick, Leucci Marcello T, Moghul Ismail, Szabo Anita, Balaskas Konstantinos, Allan Bruce D, Hardcastle Alison J, Hysi Pirro, Pontikos Nikolas, Tuft Stephen J, Gore Daniel |
Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.
JAMA ophthalmology 2022 4 . He Weixiong, Han Xikun, Ong Jue-Sheng, Hewitt Alex W, Mackey David A, Gharahkhani Puya, MacGregor Stuart, |
Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population. BMC ophthalmology 2022 3 22 (1): 129. Yuan Shiqin, Li Dong, Ma Meijiao, Zhou Lingjie, Ma Zhen, Shi Baoyu, Zhang Shuang, Li Huiping, Sheng Xunlun, Liu Junx |
A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India. European journal of ophthalmology 2022 3 32 (3): 1361-1369. Chakravarty Mrigyanka, Ponnam Surya Prakash Goud, Bardoloi Narayan, Kumar Subhash, Saikia Prasan |
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing. Journal of ophthalmology 2022 2 2022 9991910. Chen Binbin, Yu Xiaoning, Zhang Xin, Yang Hao, Cui Yilei, Shentu Xingch |
Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort. Saudi journal of biological sciences 2022 11 30 (1): 103503. Khashim Alswailmi Farhan, Bokhari Khansa, Aladaileh Saleem H, A Alanezi Abdulkareem, Azam Maleeha, Ahmad Ashf |
The association between keratoconus and allergic eye diseases: A systematic review and meta-analysis. Clinical & experimental ophthalmology 2022 1 50 (3): 280-293. Seth Ishith, Bulloch Gabriella, Vine Michael, Outmezguine Joseph, Seth Nimish, Every James, Daniell Ma |
Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population. Journal of clinical medicine 2022 1 11 (1): . Berdy?ski Mariusz, Krawczyk Piotr, Safranow Krzysztof, Borzemska Beata, Szaflik Jacek P, Nowakowska-?awrocka Karolina, ?ekanowski Cezary, Giebu?towicz Joan |
Much higher prevalence of keratoconus than announced results of the Gutenberg Health Study (GHS). Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 6 1-7. Susanne Marx-Gross, Achim Fieß, Thomas Münzel, Philipp Sebastian Wild, Manfred Elmar Beutel, Irene Schmidtmann, Karl Johannes Lackner, Norbert Pfeiffer, Alexander Karl-Georg Schust |
Natural history and predictors for progression in pediatric keratoconus. Scientific reports 2023 3 13 (1): 4940. Antunes-Foschini Rosalia, Doná Henrique, de Mello Pedro Henrique Sant'Anna, Pereira Renato Bredariol, Marqueis Isadora Mendes, Rocha Eduardo Melani, de Faria-E-Sousa Sidney Julio, Perdona Gleici Cast |
Association of 2 Lysyl Oxidase Gene Single Nucleotide Polymorphisms with Keratoconus: A Nationwide Registration Study. Ophthalmology science 2023 2 3 (2): 100247. Niazi Sana, Moshirfar Majid, Alizadeh Fatemeh, Doroodgar Farideh, Baradaran-Rafii Alireza, Filutowski Oliver, Niazi Feizollah, Ambrósio Rena |
Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort. Genes 2023 12 14 (12): . Altaf A Kondkar, Taif A Azad, Tahira Sultan, Tanvir Khatlani, Abdulaziz A Alshehri, Glenn P Lobo, Hatem Kalantan, Saleh A Al-Obeidan, Abdulrahman M Al-Muamm |
Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus. Experimental eye research 2023 12 238 109742. Mohammad-Reza Sedaghat, Hamidreza Shiri, Jalil Tavakkol-Afshari, Mohammad-Erfan Norouzmahani, Faegheh Bahri, Saba Fooladi, Hamed Momeni-Moghaddam, Zeynab Danesh, Amin Reza Nikpoor, Mohammad Amin Momeni-Moghaddam, Mohammad Hadi Nematollahi, Javad Sadeg |
Identification of genetic variants in two families with Keratoconus. BMC medical genomics 2023 11 16 (1): 299. Qinghong Lin, Xuejun Wang, Tian Han, Xingtao Zh |
Mitochondrial DNA heteroplasmy analysis in keratoconus patients from China. Frontiers in genetics 2023 10 14 1251951. Liyan Xu, Kaili Yang, Qi Fan, Yuwei Gu, Shengwei R |
Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study. BMC ophthalmology 2024 1 24 (1): 36. Wolf Wonneberger, Bertil Sterner, Ulrika MacLean, Margareta Claesson, Lena Havstam Johansson, Ingmar Skoog, Madeleine Zetterberg, Anna Zettergr |
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- Page last updated:Apr 22, 2024
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