Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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The University of Sydney
Sydney, Australia
German Cancer Research Center
Heidelberg, Germany
Memorial Sloan Kettering Cancer Center
New York, United States
Agios Pharmaceuticals (United States)
Cambridge, United States
Stanford University
Stanford, United States
Johns Hopkins University
Baltimore, United States
University of Toronto
Toronto, Canada
University of California, San Francisco
San Francisco, United States
University of Miami
Coral Gables, United States
Harvard University
Cambridge, United States
References
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Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells.
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PloS one 2015; (10(9)):e0133813 doi:10.1371/journal.pone.0133813.
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Ollier's Disease with Myelodysplastic Syndrome.
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PRECICE® magnetically-driven, telescopic, intramedullary lengthening nail: pre-clinical testing and first 30 patients.
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SICOT-J 2017; (3()):19 doi:10.1051/sicotj/2016048.
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Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.
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Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.
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Ollier disease: two case reports and a review of the literature.
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Psychological Interventions for Dementia Caregivers: What We Have Achieved, What We Have Learned.
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2-hydroxyglutarate inhibits MyoD-mediated differentiation by preventing H3K9 demethylation.
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Proceedings of the National Academy of Sciences of the United States of America 2019; (116(26)):12851-12856 doi:10.1073/pnas.1817662116.
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Genetic Causes of Rare Pediatric Ovarian Tumors.
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Maffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report.
Velagapudi S, Alshammari SM, Velagapudi S
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Differential Diagnosis of Cartilaginous Lesions of Bone.
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Archives of pathology & laboratory medicine 2020; (144(1)):71-82 doi:10.5858/arpa.2019-0441-RA.
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Multiple hereditary exostoses and enchondromatosis.
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Gene of the month: IDH1.
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Quantitative Analysis of Oncometabolite 2-Hydroxyglutarate.
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Advances in experimental medicine and biology 2021; (1280()):161-172 doi:10.1007/978-3-030-51652-9_11.
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Teaching NeuroImage: Histopathologically Confirmed Intracranial Enchondroma/Low-Grade Chondrosarcoma and IDH1-Mutated Diffuse Glioma in Ollier Disease.
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Diffuse midline glioma in Ollier disease: A case report and a brief review of the literature.
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Lengthening the Lower Extremities of Children with Ollier's and Maffucci's Enchondromatosis Using Implantable Lengthening Nails.
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Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060502.
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Update on the imaging features of the enchondromatosis syndromes.
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Ollier Disease: A Case Series and Literature Review.
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Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma.
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Frontiers in endocrinology 2021; (12()):731096 doi:10.3389/fendo.2021.731096.
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IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.
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An App-Based Mindfulness-Based Self-compassion Program to Support Caregivers of People With Dementia: Participatory Feasibility Study.
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Impact of Patient and Tumor Characteristics on Range of Motion and Recurrence Following Treatment of Enchondromas of the Hand.
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The Journal of hand surgery 2023; (48(5)):512.e1-512.e7 doi:10.1016/j.jhsa.2021.11.027.
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Femoral Lengthening in Children: A Comparison of Motorized Intramedullary Nailing Versus External Fixation Techniques.
Tillotson LO, Maddock CL, Hanley J, et al.
Journal of pediatric orthopedics 2022; (42(5)):253-259 doi:10.1097/BPO.0000000000002120.
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Brain Gliomas and Ollier Disease: Molecular Findings as Predictive Risk Factors?
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Cancers 2022; (14(14)) doi:10.3390/cancers14143464.
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IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
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Diagnostics (Basel, Switzerland) 2022; (12(11)) doi:10.3390/diagnostics12112764.
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Scanxiety Conversations on Twitter: Observational Study.
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Ollier Disease: A Case Report and Review of Treatment Options.
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Scan-Associated Distress in People Affected by Cancer: A Qualitative Systematic Review.
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Seminars in oncology nursing 2023; (39(5)):151502 doi:10.1016/j.soncn.2023.151502.
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Surveillance-Associated Anxiety After Curative-Intent Cancer Surgery: A Systematic Review.
Khatri R, Quinn PL, Wells-Di Gregorio S, et al.
Annals of surgical oncology 2025; (32(1)):47-62 doi:10.1245/s10434-024-16287-5.
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Therapeutic effect of intramedullary reaming and nailing for long bones lengthening in children with Ollier disease and Maffucci syndrome on enchondromas: multicentric retrospective case series.
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Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
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How do lesions affect limb lengthening in children with Ollier's disease?
Wu C, Huang P, Mo Y, et al.
BMC musculoskeletal disorders 2025; (26(1)):13 doi:10.1186/s12891-024-08261-9.
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An Extremely Rare Case of Ollier Disease With Calvarial Involvement.
Önner H, Calderon Tobar MN, Perktas L
Clinical nuclear medicine 2025; (50(12)):1186-1187 doi:10.1097/RLU.0000000000006108.
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Relational Aspects to Screening-Associated Distress Among Individuals With Li-Fraumeni Syndrome: "The All-Clear for Me Is Good. The All-Clear for My Kids Is Great".
Huelsnitz CO, Werner-Lin A, Forbes Shepherd R, et al.
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Caregiver Burden and the Related Factors Among Family Caregivers of Older Persons With Schizophrenia: A Mixed Methods Study.
Makanjuola OJ, Ngcobo WB
International journal of older people nursing 2025; (20(5)):e70047 doi:10.1111/opn.70047.
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Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.
Shah MS, Memon JA, Malik U, et al.
Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.
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Person-centred care in the management of imaging-related anxiety in diagnostic radiography: A scoping review exploring cancer and non-cancer populations.
Hughes VJ, Chapman HM, Ross T
Radiography (London, England : 1995) 2025; (31 Suppl 2()):103218 doi:10.1016/j.radi.2025.103218.
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Living with a Hereditary Cancer Syndrome: Personal Perspectives and Implications for Oncology Nurses.
Diez de Los Rios de la Serna C, Kavanaugh S, Magalhães D, et al.
Seminars in oncology nursing 2026; (42(2)):152151 doi:10.1016/j.soncn.2026.152151.
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Severe Deforming Ollier Disease with a Giant Proximal Humeral Benign Chondroid Lesion in an Adolescent Male: Case Report.
Prakash M, Siddhartha SA, Gurumurthy B, et al.
Journal of orthopaedic case reports 2026; (16(7)):383-388 doi:10.13107/jocr.2026.v16.i07.7698.
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