Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and EXT1[original query] |
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| Shoulder exostoses in hereditary multiple exostoses: probability of surgery and malignant change. Journal of shoulder and elbow surgery / American Shoulder and Elbow Surgeons ... [et al.] 2011 Mar 20 (2): 290-4. Clement Nicholas David, Ng Che E, Porter Daniel |
| 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. Gene 2012 Dec . Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L |
| Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. The Journal of bone and joint surgery. American volume 2011 Dec 93 (24): 2294-302. Pedrini Elena, Jennes Ivy, Tremosini Morena, Milanesi Annamaria, Mordenti Marina, Parra Alessandro, Sgariglia Federica, Zuntini Monia, Campanacci Laura, Fabbri Nicola, Pignotti Elettra, Wuyts Wim, Sangiorgi Lu |
| Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. Bone 2016 Sep 92 196-200. Cousminer Diana L, Arkader Alexandre, Voight Benjamin F, Pacifici Maurizio, Grant Struan F |
Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS).
PloS one 2017 12 (12): e0188725. Shendre Aditi, Wiener Howard W, Irvin Marguerite R, Aouizerat Bradley E, Overton Edgar T, Lazar Jason, Liu Chenglong, Hodis Howard N, Limdi Nita A, Weber Kathleen M, Gange Stephen J, Zhi Degui, Floris-Moore Michelle A, Ofotokun Ighovwerha, Qi Qibin, Hanna David B, Kaplan Robert C, Shrestha Sade |
| 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 |
| Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. Molecular genetics & genomic medicine 2018 3 6 (3): 382-392. Santos Savana C L, Rizzo Isabela M P O, Takata Reinaldo I, Speck-Martins Carlos E, Brum Jaime M, Sollaci Claud |
| [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 |
| Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. Molecular syndromology 2021 5 12 (2): 96-100. Wang Chen-Yu, Yu Fang, Jin Jie-Yuan, He Ji-Qiang, Fan Liang-Liang, Tang Ju-Yu, Xiang Ro |
| A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. Journal of clinical medicine 2022 7 11 (13): . Kim Sungmin, Lee Chang-Hyun, Choi Seok-Yong, Kim Myeong-Kyu, Jung Sung Ta |
| 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 |
| Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard. European journal of human genetics : EJHG 2022 11 31 (2): 248-251. Jackson Iseult, Mattiangeli Valeria, Cassidy Lara M, Murphy Eileen, Bradley Daniel |
| 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 |
| Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
| Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population. BMC genomics 2024 6 25 (1): 607. Wei-De Lin, Wen-Ling Liao, Wei-Cheng Chen, Ting-Yuan Liu, Yu-Chia Chen, Fuu-Jen Ts |
- Page last reviewed:Feb 1, 2024
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