Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: COL6A1[original query] |
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COL6A1 gene and Ironman triathlon performance. International journal of sports medicine 2011 Nov 32 (11): 896-901. O'Connell K, Posthumus M, Collins |
No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion. Journal of sports sciences 2013 31 (2): 181-7. O'connell Kevin, Posthumus Michael, Collins Malco |
Collagen genes and exercise-associated muscle cramping. Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 2013 Jan 23 (1): 64-9. O'Connell Kevin, Posthumus Michael, Schwellnus Martin P, Collins Malco |
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American journal of human genetics 2012 Oct 91 (4): 646-59. Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl |
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Frontiers in genetics 2013 4 57. Dey Arpita, Bhowmik Krishnendu, Chatterjee Arpita, Chakrabarty Pit Baran, Sinha Swagata, Mukhopadhyay Kanch |
Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. European journal of sport science 2015 15 (4): 341-50. O'Connell Kevin, Knight Hayley, Ficek Krzysztof, Leonska-Duniec Agata, Maciejewska-Karlowska Agnieszka, Sawczuk Marek, Stepien-Slodkowska Marta, O'Cuinneagain Dion, van der Merwe Willem, Posthumus Michael, Cieszczyk Pawel, Collins Malco |
Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members. Genetics and molecular research : GMR 2014 13 (1): 2240-7. Kim K H, Kuh S U, Park J Y, Lee S J, Park H S, Chin D K, Kim K S, Cho Y |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clinical genetics 2016 Jul . Park Hyung Jun, Jang Hoon, Kim Ji Hye, Lee Jung Hwan, Shin Ha Young, Kim Seung Min, Park Kee Duk, Yim Sung-Vin, Lee Ji Hyun, Choi Young-Ch |
Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes. Scientific reports 2016 6 26962. Chen Xin, Guo Jun, Cai Tao, Zhang Fengshan, Pan Shengfa, Zhang Li, Wang Shaobo, Zhou Feifei, Diao Yinze, Zhao Yanbin, Chen Zhen, Liu Xiaoguang, Chen Zhongqiang, Liu Zhongjun, Sun Yu, Du J |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
Rare coding variants associated with blood pressure variation in 15?914 individuals of African ancestry.
Journal of hypertension 2017 Feb . Nandakumar Priyanka, Lee Dongwon, Richard Melissa A, Tekola-Ayele Fasil, Tayo Bamidele O, Ware Erin, Sung Yun J, Salako Babatunde, Ogunniyi Adesola, Gu C Charles, Grove Megan L, Fornage Myriam, Kardia Sharon, Rotima Charles, Cooper Richard S, Morrison Alanna C, Ehret Georg, Chakravarti Aravin |
Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing. Molecular medicine reports 2017 Nov . Wang Peng, Liu Xiao, Zhu Bin, Ma Yunlong, Yong Lei, Teng Ze, Wang Yongqiang, Liang Chen, He Guanping, Liu Xiaogua |
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 |
Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients. Journal of orthopaedic surgery and research 2018 May 13 (1): 109. Wang Peng, Liu Xiao, Zhu Bin, Ma Yunlong, Yong Lei, Teng Ze, Liang Chen, He Guanping, Liu Xiaogua |
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 |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
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 |
The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament. Molecular medicine reports 2019 Nov . Wang Peng, Teng Ze, Liu Xiaoguang, Liu Xiao, Kong Chao, Lu Shib |
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 |
Postmortem detection of COL gene family variants in two aortic dissection cases. International journal of legal medicine 2021 6 136 (1): 85-91. Pan Meichen, Wang Yuning, Li Lianjie, Li Zehao, Wu Shifan, Liu Qi |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
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 |
Impact of STAT1 polymorphisms on crizotinib-induced hepatotoxicity in ALK-positive non-small cell lung cancer patients. Journal of cancer research and clinical oncology 2021 1 147 (3): 725-737. Xin Shuang, Fang Wenfeng, Li Jianwen, Li Delan, Wang Changzheng, Huang Quanfei, Huang Min, Zhuang Wei, Wang Xueding, Chen Lik |
Towards Understanding the Key Signature Pathways Associated from Differentially Expressed Gene Analysis in an Indian Prostate Cancer Cohort. Diseases (Basel, Switzerland) 2023 5 11 (2): . Nidhi Shukla, Bhumandeep Kour, Devendra Sharma, Maneesh Vijayvargiya, T C Sadasukhi, Krishna Mohan Medicherla, Babita Malik, Bhawana Bissa, Sugunakar Vuree, Nirmal Kumar Lohiya, Prashanth Suravajha |
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 |
[Mutational Signatures Analysis of Micropapillary Components and Exploration of ZNF469 Gene in Early-stage Lung Adenocarcinoma with Ground-glass Opacities]. Zhongguo fei ai za zhi = Chinese journal of lung cancer 2023 12 26 (12): 889-900. Youtao Xu, Qinhong Sun, Siwei Wang, Hongyu Zhu, Guozhang Dong, Fanchen Meng, Zhijun Xia, Jing You, Xiangru Kong, Jintao Wu, Peng Chen, Fangwei Yuan, Xinyu Yu, Jinfu Ji, Zhitong Li, Pengcheng Zhu, Yuxiang Sun, Tongyan Liu, Rong Yin, Lin |
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