Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 24 (of 24 Records) |
Query Trace: Chordoma[original query] |
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Frequent IDH1/2 mutations in intracranial chondrosarcoma: a possible diagnostic clue for its differentiation from chordoma. Brain tumor pathology 2012 Feb . Arai M, Nobusawa S, Ikota H, Takemura S, Nakazato Y |
A common single-nucleotide variant in T is strongly associated with chordoma. Nature genetics 2012 Oct . Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM |
The brachyury Gly177Asp SNP is not associated with a risk of skull base chordoma in the Chinese population. International journal of molecular sciences 2013 14 (11): 21258-65. Wu Zhen, Wang Ke, Wang Liang, Feng Jie, Hao Shuyu, Tian Kaibing, Zhang Liwei, Jia Guijun, Wan Hong, Zhang Junti |
Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. Human genetics 2014 Oct 133 (10): 1289-97. Kelley Michael J, Shi Jianxin, Ballew Bari, Hyland Paula L, Li Wen-Qing, Rotunno Melissa, Alcorta David A, Liebsch Norbert J, Mitchell Jason, Bass Sara, Roberson David, Boland Joseph, Cullen Michael, He Ji, Burdette Laurie, Yeager Meredith, Chanock Stephen J, Parry Dilys M, Goldstein Alisa M, Yang Xiaohong |
Genotyping cancer-associated genes in chordoma identifies mutations in oncogenes and areas of chromosomal loss involving CDKN2A, PTEN, and SMARCB1. PloS one 2014 9 (7): e101283. Choy Edwin, MacConaill Laura E, Cote Gregory M, Le Long P, Shen Jacson K, Nielsen Gunnlaugur P, Iafrate Anthony J, Garraway Levi A, Hornicek Francis J, Duan Zhenfe |
WRN Cys1367Arg polymorphism is not associated with skull base chordoma. Biomedical reports 2014 Jul 2 (4): 521-524. Wang Ke, Wang Liang, Feng Jie, Hao Shuyu, Tian Kaibing, Wu Zhen, Zhang Liwei, Jia Guijun, Wan Hong, Zhang Junti |
T gene isoform expression pattern is significantly different between chordomas and notochords. Biochemical and biophysical research communications 2015 Oct . Wang Ke, Hu Qingtao, Wang Liang, Chen Wei, Tian Kaibing, Cao Chunwei, Wu Zhen, Jia Guijun, Zhang Liwei, Zeng Changqing, Zhang Junti |
Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival. Neuro-oncology 2016 Sep . Bettegowda Chetan, Yip Stephen, Lo Sheng-Fu Larry, Fisher Charles G, Boriani Stefano, Rhines Laurence D, Wang Joanna Y, Lazary Aron, Gambarotti Marco, Wang Wei-Lien, Luzzati Alessandro, Dekutoski Mark B, Bilsky Mark H, Chou Dean, Fehlings Michael G, McCarthy Edward F, Quraishi Nasir A, Reynolds Jeremy J, Sciubba Daniel M, Williams Richard P, Wolinsky Jean-Paul, Zadnik Patricia L, Zhang Ming, Germscheid Niccole M, Kalampoki Vasiliki, Varga Peter Pal, Gokaslan Ziya L, |
SMARCB1/INI1 Involvement in Pediatric Chordoma: A Mutational and Immunohistochemical Analysis. The American journal of surgical pathology 2016 Sep . Antonelli Manila, Raso Alessandro, Mascelli Samantha, Gessi Marco, Nozza Paolo, Coli Antonella, Gardiman Marina P, Arcella Antonietta, Massimino Maura, Buttarelli Francesca R, Giangaspero Feli |
The driver landscape of sporadic chordoma. Nature communications 2017 10 8 (1): 890. Tarpey Patrick S, Behjati Sam, Young Matthew D, Martincorena Inigo, Alexandrov Ludmil B, Farndon Sarah J, Guzzo Charlotte, Hardy Claire, Latimer Calli, Butler Adam P, Teague Jon W, Shlien Adam, Futreal P Andrew, Shah Sohrab, Bashashati Ali, Jamshidi Farzad, Nielsen Torsten O, Huntsman David, Baumhoer Daniel, Brandner Sebastian, Wunder Jay, Dickson Brendan, Cogswell Patricia, Sommer Josh, Phillips Joanna J, Amary M Fernanda, Tirabosco Roberto, Pillay Nischalan, Yip Stephen, Stratton Michael R, Flanagan Adrienne M, Campbell Peter |
Osseous metastases of chordoma: imaging and clinical findings. Skeletal radiology 2017 1 46 (3): 351-358. Chang Connie, Chebib Ivan, Torriani Martin, Bredella Miri |
Analysis of variants at LGALS3 single nucleotide polymorphism loci in skull base chordoma. Oncology letters 2018 Jul 16 (1): 1312-1320. Tian Kaibing, Wang Liang, Wang Ke, Ma Junpeng, Li Da, Yang Yang, Jia Guijun, Wu Zhen, Zhang Liwei, Zhang Junti |
Chromosome 3p loss of heterozygosity and reduced expression of H3K36me3 correlate with longer relapse-free survival in sacral conventional chordoma. Human pathology 2020 8 104 73-83. Zhu Guo Gord, Ramirez Daniel, Chen Wen, Lu Chao, Wang Lu, Frosina Denise, Jungbluth Achim, Ntiamoah Peter, Nafa Khedoudja, Boland Patrick J, Hameed Meera |
Genomic and Immunologic Characterization of INI1-Deficient Pediatric Cancers. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 3 26 (12): 2882-2890. Forrest Suzanne J, Al-Ibraheemi Alyaa, Doan Duong, Ward Abigail, Clinton Catherine M, Putra Juan, Pinches R Seth, Kadoch Cigall, Chi Susan N, DuBois Steven G, Leavey Patrick J, LeBoeuf Nicole R, Mullen Elizabeth, Collins Natalie, Church Alanna J, Janeway Katherine |
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility. Cancers 2021 May 13 (11): . Yepes Sally, Shah Nirav N, Bai Jiwei, Koka Hela, Li Chuzhong, Gui Songbai, McMaster Mary Lou, Xiao Yanzi, Jones Kristine, Wang Mingyi, Vogt Aurelie, Zhu Bin, Zhu Bin, Hutchinson Amy, Yeager Meredith, Hicks Belynda, Carter Brian, Freedman Neal D, Beane-Freeman Laura, Chanock Stephen J, Zhang Yazhuo, Parry Dilys M, Yang Xiaohong R, Goldstein Alisa |
The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA. Neuro-oncology advances 2021 2 3 (1): vdaa173. Mattox Austin K, Yang Beibei, Douville Christopher, Lo Sheng-Fu, Sciubba Daniel, Wolinsky Jean Paul, Gokaslan Ziya L, Robison Jamie, Blair Cherie, Jiao Yuchen, Bettegowda Chet |
Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay. Journal of clinical laboratory analysis 2021 Nov e24150. Jalessi Maryam, Gholami Mohammad Saeed, Razmara Ehsan, Hassanzadeh Sajad, Sadeghipour Alireza, Jahanbakhshi Amin, Tabibkhooei Alireza, Bahrami Eshagh, Falah Masoum |
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma. Human mutation 2022 6 43 (10): 1396-1407. Xia Bing, Biswas Kajal, Foo Tzeh K, Gomes Thiago T, Riedel-Topper Maximilian, Southon Eileen, Kang Zhihua, Huo Yanying, Reid Susan, Stauffer Stacey, Zhou Weiyin, Zhu Bin, Koka Hela, Yepes Sally, Brodie Seth A, Jones Kristine, Vogt Aurelie, Zhu Bin, Carter Brian, Freedman Neal D, Hicks Belynda, Yeager Meredith, Chanock Stephen J, Couch Fergus, Parry Dilys M, Monteiro Alvaro N, Goldstein Alisa M, Carvalho Marcelo A, Sharan Shyam K, Yang Xiaohong |
In vivo efficacy assessment of the CDK4/6 inhibitor palbociclib and the PLK1 inhibitor volasertib in human chordoma xenografts. Frontiers in oncology 2022 12 12 960720. Passeri Thibault, Dahmani Ahmed, Masliah-Planchon Julien, El Botty Rania, Courtois Laura, Vacher Sophie, Marangoni Elisabetta, Nemati Fariba, Roman-Roman Sergio, Adle-Biassette Homa, Mammar Hamid, Froelich Sébastien, Bièche Ivan, Decaudin Didi |
The mutational landscape of skull base and spinal chordomas and the identification of potential prognostic and theranostic biomarkers. Journal of neurosurgery 2023 4 1-11. Passeri Thibault, Gutman Tom, Hamza Abderaouf, Adle-Biassette Homa, Girard Elodie, Beaurepere Romane, Tariq Zakia, Mariani Odette, Dahmani Ahmed, Bourneix Christine, Abbritti Rosaria, Driouch Keltouma, Bohec Mylène, Servant Nicolas, Baulande Sylvain, Decaudin Didier, Guichard Jean-Pierre, Calugaru Valentin, Feuvret Loïc, Guinebretière Jean-Marc, Champion Laurence, Bièche Ivan, Froelich Sébastien, Mammar Hamid, Masliah-Planchon Juli |
De novo versus secondary dedifferentiated chordomas: a population-based analysis and integrated individual participant data meta-analysis. World neurosurgery 2023 2 . Vuong Huy Gia, Le Minh-Khang, Nguyen Truong P X, Eschbacher Kathr |
Genomic profiles and clinical presentation of chordoma. Acta neuropathologica communications 2024 8 12 (1): 129. Hela Koka, Weiyin Zhou, Mary L McMaster, Jiwei Bai, Wen Luo, Alyssa Klein, Tongwu Zhang, Xing Hua, Xin Li, Difei Wang, Yujia Xiong, Kristine Jones, Aurelie Vogt, Belynda Hicks, Dilys Parry, Alisa M Goldstein, Xiaohong R Ya |
Germline findings in cancer predisposing genes from a small cohort of chordoma patients. Journal of cancer research and clinical oncology 2024 5 150 (5): 227. Margarita Raygada, Liny John, Anne Liu, Julianne Schultz, B J Thomas, Donna Bernstein, Markku Miettinen, Mark Raffeld, Liqiang Xi, Manoj Tyagi, Kenneth Aldape, John Glod, Karlyne M Reilly, Brigitte C Widemann, Mary Frances Wedeki |
Pediatric Chordoma: A Tale of Two Genomes. Molecular cancer research : MCR 2024 5 . Katrina O'Halloran, Hesamedin Hakimjavadi, Moiz Bootwalla, Dejerianne Ostrow, Rhea Kerawala, Jennifer A Cotter, Venkata Yellapantula, Kristiyana Kaneva, Nitin R Wadhwani, Amy Treece, Nicholas K Foreman, Sanda Alexandrescu, Jose Velazquez Vega, Jaclyn A Biegel, Xiaowu G |
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