Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 27 (of 27 Records) |
Query Trace: Chondrosarcoma[original query] |
---|
Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling. Arthritis and rheumatism 2006 Feb 54 (2): 524-32. Spector Tim D, Reneland Richard H, Mah Steven, Valdes Ana M, Hart Deborah J, Kammerer Stefan, Langdown Maria, Hoyal Carolyn R, Atienza Josephine, Doherty Michael, Rahman Proton, Nelson Matthew R, Braun Andre |
Methylenetetrahydrofolate reductase C677T gene polymorphism in osteosarcoma and chondrosarcoma patients. Folia biologica 2008 54 (2): 53-7. Ozger H, Kilicoglu O, Yilmaz H, Ergen H A, Yaylim I, Zeybek U, Isbir |
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 |
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 |
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. Nature genetics 2013 Aug 45 (8): 923-6. Tarpey Patrick S, Behjati Sam, Cooke Susanna L, Van Loo Peter, Wedge David C, Pillay Nischalan, Marshall John, O'Meara Sarah, Davies Helen, Nik-Zainal Serena, Beare David, Butler Adam, Gamble John, Hardy Claire, Hinton Jonathon, Jia Ming Ming, Jayakumar Alagu, Jones David, Latimer Calli, Maddison Mark, Martin Sancha, McLaren Stuart, Menzies Andrew, Mudie Laura, Raine Keiran, Teague Jon W, Tubio Jose M C, Halai Dina, Tirabosco Roberto, Amary Fernanda, Campbell Peter J, Stratton Michael R, Flanagan Adrienne M, Futreal P Andr |
Molecular distinction of chondrosarcoma from chondroblastic osteosarcoma through IDH1/2 mutations. The American journal of surgical pathology 2013 Jun 37 (6): 787-95. Kerr Darcy A, Lopez Hector U, Deshpande Vikram, Hornicek Francis J, Duan Zhenfeng, Zhang Yaxia, Rosenberg Andrew E, Borger Darrel R, Nielsen G Pet |
IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas. Clinical sarcoma research 2017 7 8. Cleven Arjen H G, Suijker Johnny, Agrogiannis Georgios, Briaire-de Bruijn Inge H, Frizzell Norma, Hoekstra Attje S, Wijers-Koster Pauline M, Cleton-Jansen Anne-Marie, Bovée Judith V M |
IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. Journal of Cancer 2018 9 (6): 998-1005. Lugowska Iwona, Teterycz Pawel, Mikula Michal, Kulecka Maria, Kluska Anna, Balabas Aneta, Piatkowska Magdalena, Wagrodzki Michal, Pienkowski Andrzej, Rutkowski Piotr, Ostrowski Jer |
Presence of TERT Promoter Mutations is a Secondary Event and Associates with Elongated Telomere Length in Myxoid Liposarcomas. International journal of molecular sciences 2018 Feb 19 (2): . Ferreira Monica S Ventura, Crysandt Martina, Braunschweig Till, Jost Edgar, Voss Barbara, Bouillon Anne-Sophie, Knuechel Ruth, Brümmendorf Tim H, Beier Fabi |
Functional testing of thousands of osteoarthritis-associated variants for regulatory activity. Nature communications 2019 6 10 (1): 2434. Klein Jason C, Keith Aidan, Rice Sarah J, Shepherd Colin, Agarwal Vikram, Loughlin John, Shendure J |
Genomic Profiling Identifies Association of IDH1/IDH2 Mutation with Longer Relapse-Free and Metastasis-Free Survival in High-Grade Chondrosarcoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Oct . Zhu Guo Gord, Nafa Khedoudja, Agaram Narasimhan, Zehir Ahmet, Benayed Ryma, Sadowska Justyna, Borsu Laetitia, Kelly Ciara, Tap William D, Fabbri Nicola, Athanasian Edward, Boland Patrick J, Healey John H, Berger Michael F, Ladanyi Marc, Hameed Mee |
Characterisation of isocitrate dehydrogenase 1/isocitrate dehydrogenase 2 gene mutation and the d-2-hydroxyglutarate oncometabolite level in dedifferentiated chondrosarcoma. Histopathology 2019 10 76 (5): 722-730. Mohammad Nissreen, Wong Derek, Lum Amy, Lin Jonah, Ho Julie, Lee Cheng-Han, Yip Steph |
Insulin-Like Growth Factor 1 (IGF1) Pathway Member Polymorphisms Are Associated with Risk and Prognosis of Chondrosarcoma. Medical science monitor : international medical journal of experimental and clinical research 2020 Apr 26 e923853. Xie Hui, Mao Jian-Shu, Hu Wei-Fe |
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020 Feb . Scotto di Carlo Federica, Pazzaglia Laura, Mumm Steven, Benassi Maria S, De Chiara Annarosaria, Franchi Alessandro, Parafioriti Antonina, Righi Alberto, Esposito Teresa, Whyte Michael P, Gianfrancesco Fernan |
Genomic Profiling of Low-grade Intramedullary Cartilage Tumors Can Distinguish Enchondroma From Chondrosarcoma. The American journal of surgical pathology 2020 11 45 (6): 812-819. Joseph Nancy M, McGill Kevin C, Horvai Andrew |
Prognostic impact of IDH mutations in chondrosarcoma. Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2021 Sep . Nakagawa Makoto, Sekimizu Masaya, Endo Makoto, Kobayashi Eisuke, Iwata Shintaro, Fukushima Suguru, Yoshida Akihiko, Kitabayashi Issay, Ichikawa Hitoshi, Kawai Akira, Nakatani Fumihi |
Association of TP53 Alteration with Tissue Specificity and Patient Outcome of IDH1-Mutant Glioma. Cells 2021 8 10 (8): . Murnyak Balazs, Huang L Er |
Fresh Tissue Multi-omics Profiling Reveals Immune Classification and Suggests Immunotherapy Candidates for Conventional Chondrosarcoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 8 27 (23): 6543-6558. Li Binghao, Li Guoqi, Yan Xiaobo, Zhu Dan, Lin Patrick P, Wang Zenan, Qu Hao, He Xuexin, Fu Yanbiao, Zhu Xiuliang, Lin Peng, Zhang Jiangnan, Li Xiaoya, Dai Hui, Chen Huabiao, Poznansky Mark C, Lin Nong, Ye Zhaomi |
Mutant IDH and non-mutant chondrosarcomas display distinct cellular metabolomes. Cancer & metabolism 2021 3 9 (1): 13. Pathmanapan Sinthu, Ilkayeva Olga, Martin John T, Loe Adrian Kwan Ho, Zhang Hongyuan, Zhang Guo-Fang, Newgard Christopher B, Wunder Jay S, Alman Benjamin |
A genetic model for central chondrosarcoma evolution correlates with patient outcome. Genome medicine 2022 8 14 (1): 99. Cross William, Lyskjær Iben, Lesluyes Tom, Hargreaves Steven, Strobl Anna-Christina, Davies Christopher, Waise Sara, Hames-Fathi Shadi, Oukrif Dahmane, Ye Hongtao, Amary Fernanda, Tirabosco Roberto, Gerrand Craig, Baker Toby, Barnes David, Steele Christopher, Alexandrov Ludmil, Bond Gareth, , Cool Paul, Pillay Nischalan, Van Loo Peter, Flanagan Adrienne |
Periosteal chondrosarcoma: A case series in a referral center with survivorship analysis. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2022 6 48 (8): 1730-1738. Pacheco Marina, Barra Lucia, Gambarotti Marco, Magagnoli Giovanna, Sbaraglia Marta, Asioli Sofia, Cocchi Stefania, Carretta Elisa, Frisoni Tommaso, Benini Stefania, Dei Tos Angelo Paolo, Righi Alber |
Plk1 regulates mutant IDH1 enzyme activity and mutant IDH2 ubiquitination in mitosis. Cellular signalling 2022 2 92 110279. Saikiran Reddy M, Bhattacharjee Debanjan, Jain Nisha |
IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience. BMC cancer 2023 9 23 (1): 907. Elisabetta Setola, S Benini, A Righi, G Gamberi, E Carretta, C Ferrari, S Avnet, E Palmerini, G Magagnoli, M Gambarotti, P L Lollini, M Cesari, S Cocchi, A Paioli, A Longhi, K Scotlandi, M A Laginestra, D M Donati, N Baldini, T Ibrah |
Clinico-genomic profiling of conventional and dedifferentiated chondrosarcomas reveals TP53 mutation to be associated with worse outcomes. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 9 . Ryan A Denu, Richard K Yang, Alexander J Lazar, Shalin S Patel, Valerae O Lewis, Jason Roszik, J Andrew Livingston, Wei-Lien Wang, Kenna R Shaw, Ravin Ratan, Maria A Zarzour, Justin Bird, Shaan M Raza, Kadir C Akdemir, Jordi Rodon Ahnert, Vivek Subbiah, Shreyaskumar Patel, Anthony P Conl |
Isocitrate Dehydrogenase 1 and 2 Mutations in Pediatric Neuroblastoma Patients. Medeniyet medical journal 2023 6 38 (2): 102-110. Emre Leventoglu, Gurses Sahin, Sule Yesil, Ceyhun Bozkurt, Nazmiye Yuksek, Ali Fettah, Sule Toprak, Burcak Kurucu Bilgin, Emre Capkinoglu, Nilgun Eroglu, Sibel Akpinar Tekgunduz, Ayse Ulya Ert |
Distinct IDH1/2-associated Methylation Profile and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma. Cancer research communications 2023 3 3 (3): 431-443. Dermawan Josephine Kam Tai, Nafa Khedoujia, Mohanty Abhinita, Xu Yingjuan, Rijo Ivelise, Casanova Jacklyn, Villafania Liliana, Benhamida Jamal, Kelly Ciara M, Tap William D, Boland Patrick J, Fabbri Nicola, Healey John H, Ladanyi Marc, Lu Chao, Hameed Mee |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: