Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and COL6A1[original query] |
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| COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. Spine 2005 Oct 30 (20): 2321-4. Tsukahara So, Miyazawa Nobuhiko, Akagawa Hiroyuki, Forejtova Sarka, Pavelka Karel, Tanaka Toshihiro, Toh Satoshi, Tajima Atsushi, Akiyama Iwao, Inoue Itu |
| Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis. The Journal of rheumatology 2008 Sep 35 (9): 1849-52. Kim Tae-Hwan, Kim Tae-Jong, Lee Hye-Soon, Uhm Wan-Sik, Shin Eun-Soon, Na Young-In, Jun Jae-B |
| RUNX2 polymorphisms associated with OPLL and OLF in the Han population. Clinical orthopaedics and related research 2010 Dec 468 (12): 3333-41. Liu Yang, Zhao Yongfei, Chen Yu, Shi Guodong, Yuan W |
| Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
JAMA ophthalmology 2019 Jun . Khawaja Anthony P, Rojas Lopez Karla E, Hardcastle Alison J, Hammond Chris J, Liskova Petra, Davidson Alice E, Gore Daniel M, Hafford Tear Nathan J, Pontikos Nikolas, Hayat Shabina, Wareham Nick, Khaw Kay-Tee, Tuft Stephen J, Foster Paul J, Hysi Pirro |
| Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. Journal of neuromuscular diseases 2019 5 6 (2): 241-258. Westra Dineke, Schouten Meyke I, Stunnenberg Bas C, Kusters Benno, Saris Christiaan G J, Erasmus Corrie E, van Engelen Baziel G, Bulk Saskia, Verschuuren-Bemelmans Corien C, Gerkes E H, de Geus Christa, van der Zwaag P A, Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q C M, Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J, Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C E H, Krapels Ingrid P C, Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J A, Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol |
| A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament. Journal of orthopaedic surgery and research 2019 Dec 14 (1): 438. Wang Peng, Teng Ze, Liu Xiaoguang, Liu Xiao, Kong Chao, Lu Shib |
| Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus. Ophthalmic genetics 2020 Aug 1-8. Xu Liyan, Yang Kaili, Fan Qi, Gu Yuwei, Zhang Bo, Pang Chenjiu, Ren Shengw |
| Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing. Journal of advanced research 2020 May 23 113-121. Zhu Shiwei, He Meibo, Liu Zuojing, Qin Zelian, Wang Zhiren, Duan Lipi |
| Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.
Communications biology 2020 12 3 (1): 762. Jiang Xinyi, Dellepiane Nefeli, Pairo-Castineira Erola, Boutin Thibaud, Kumar Yatendra, Bickmore Wendy A, Vitart Veroniq |
| Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2021 Jul . Qu Xiaochen, Hou Xiaofei, Chen Zhongqiang, Chen Guanghui, Fan Tianqi, Yang Xiao |
| Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey. Annals of Indian Academy of Neurology 2021 11 24 (4): 547-551. Kutluk Muhammet G, Kadem Naz, Bektas Omer, Randa Nadide C, Tuncer Gökcen O, Albayrak Pelin, Eminoglu Tuba, Teber Serap |
| Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Frontiers in genetics 2023 12 14 1242277. Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokho |
| Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. Neurogenetics 2024 8 . Tanushree Chawla, Saraswati Nashi, Dipti Baskar, Kiran Polavarapu, Seena Vengalil, Mainak Bardhan, Veeramani Preethish-Kumar, Ramya Sukrutha, Gopikrishnan Unnikrishnan, Akshata Huddar, Hansashree Padmanabha, Ram Murthy Anjanappa, Nandeesh Bevinahalli, Vidya Nittur, Manoj Rajanna, Gautham Arunachal Udupi, Atchayaram Nali |
| Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. Iranian biomedical journal 2024 10 . Nasibeh Soltani, Zahra Shahbazi, Morteza Karimipoor, Mohammad Sadegh Fallah, Fatemeh Zafarghandi Motlagh, Masoume Amini, Mojdeh Jamali, Hamideh Bagherian, Razie Zeinali, Sirous Zeina |
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