Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Osteochondroma and EXT2[original query] |
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The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone 2015 Mar 72 123-7. Sgariglia Federica, Pedrini Elena, Bradfield Jonathan P, Bhatti Tricia R, D'Adamo Pio, Dormans John P, Gunawardena Aruni T, Hakonarson Hakon, Hecht Jacqueline T, Sangiorgi Luca, Pacifici Maurizio, Enomoto-Iwamoto Motomi, Grant Struan F |
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle. Molecular and clinical oncology 2016 Sep 5 (3): 295-299. Zhou Qin, Yang Chi, Chen Min-Jie, Li Ling-Z |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC genetics 2016 17 (1): 52. Ishimaru Daichi, Gotoh Masanori, Takayama Shinichiro, Kosaki Rika, Matsumoto Yoshihiro, Narimatsu Hisashi, Sato Takashi, Kimata Koji, Akiyama Haruhiko, Shimizu Katsuji, Matsumoto Ka |
[Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 6 38 (6): 549-552. Guo Xiaoyan, Zheng Qinqin, Lin Mingrui, Zhang Yiyuan, Shi Tengf |
Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier. Molecular genetics and genomics : MGG 2022 2 297 (2): 397-405. Khalil Ramzi, Boels Margien G S, , van den Berg Bernard M, Bruijn Jan A, Rabelink Ton J, Hogendoorn Pancras C W, Baelde Hans |
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas. Turkish archives of pediatrics 2023 6 . Nilay Güne?, Dilek Uluda? Alkaya, Asl? Toylu, Püren Özüdo?ru, Evrim Çifçi Sunamak, Ali ?eker, Bilal Demir, Sebuh Kuru?o?lu, Ercan M?hç?, Beyhan Tüys |
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