Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and EXT2[original query] |
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A genome-wide association study identifies novel risk loci for type 2 diabetes.
Nature 2007 Feb 445 (7130): 881-5. Sladek Robert, Rocheleau Ghislain, Rung Johan, Dina Christian, Shen Lishuang, Serre David, Boutin Philippe, Vincent Daniel, Belisle Alexandre, Hadjadj Samy, Balkau Beverley, Heude Barbara, Charpentier Guillaume, Hudson Thomas J, Montpetit Alexandre, Pshezhetsky Alexey V, Prentki Marc, Posner Barry I, Balding David J, Meyre David, Polychronakos Constantin, Froguel Philip |
| 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 |
| Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
| 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 |
| A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients. Gastroenterology report 2021 Aug 9 (4): 339-349. Zhang Yin-Jie, Yang Yang, Wei Qing, Xu Ting, Zhang Xiao-Tian, Gao Jing, Tan Si-Yi, Liu Bao-Rui, Zhang Jing-Dong, Chen Xiao-Bing, Wang Zhao-Jie, Qiu Meng, Wang Xin, Shen Lin, Wang Xi-Che |
| Somatic mutations in benign breast disease tissues and association with breast cancer risk. BMC medical genomics 2021 7 14 (1): 185. Winham Stacey J, Wang Chen, Heinzen Ethan P, Bhagwate Aditya, Liu Yuanhang, McDonough Samantha J, Stallings-Mann Melody L, Frost Marlene H, Vierkant Robert A, Denison Lori A, Carter Jodi M, Sherman Mark E, Radisky Derek C, Degnim Amy C, Cunningham Julie |
| [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 |
| 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 |
| Prognostic Model for High-Grade Neuroendocrine Carcinoma of the Lung Incorporating Genomic Profiling and Poly (ADP-ribose) Polymerase-1 Expression. JCO precision oncology 2024 4 8 e2300495. Hye Sook Kim, Jong Kwang Kim, Jeong Hyeon Lee, Young Joo Lee, Geon-Kuk Lee, Ji-Youn H |
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