IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

Genome-wide analysis of Ollier disease: Is it all in the genes?

(2011) Twinkal C Pansuriya et al.   Orphanet Journal of Rare Diseases

Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer

(2010) Avaniyapuram Kannan Murugan et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value

(2010) S. Abbas et al.   BLOOD

Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia

(2010) F. Thol et al.   BLOOD

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation

(2010) Maria E. Figueroa et al.   CANCER CELL

Genetic Analysis of Transforming Events That Convert Chronic Myeloproliferative Neoplasms to Leukemias

(2010) O. Abdel-Wahab et al.   CANCER RESEARCH

IDH1 and IDH2 Mutations Are Prognostic but not Predictive for Outcome in Anaplastic Oligodendroglial Tumors: A Report of the European Organization for Research and Treatment of Cancer Brain Tumor Group

(2010) M. J. van den Bent et al.   CLINICAL CANCER RESEARCH

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

(2010) Károly Szuhai et al.   HUMAN MUTATION

Increased levels of hypoxia-inducible factor-1α are associated with Bcl-xL expression, tumor apoptosis, and clinical outcome in chondrosarcoma

(2010) Changbao Chen et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study

(2010) P A Ho et al.   LEUKEMIA

Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms

(2010) O Kosmider et al.   LEUKEMIA

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Somatic Mutations ofIDH1andIDH2in the Leukemic Transformation of Myeloproliferative Neoplasms

(2010) Anthony Green et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer-associated IDH mutations: biomarker and therapeutic opportunities

(2010) K E Yen et al.   ONCOGENE

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

(2010) M. Kranendijk et al.   SCIENCE

IDH mutations in glioma and acute myeloid leukemia

(2010) Lenny Dang et al.   TRENDS IN MOLECULAR MEDICINE

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

(2010) Nara L. M. Sobreira et al.   PLoS Genetics

Characterization of R132H Mutation-specific IDH1 Antibody Binding in Brain Tumors

(2009) David Capper et al.   BRAIN PATHOLOGY

Potential therapeutic targets for chordoma: PI3K/AKT/TSC1/TSC2/mTOR pathway

(2009) N Presneau et al.   BRITISH JOURNAL OF CANCER

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

DO INTRACRANIAL NEOPLASMS DIFFER IN OLLIER DISEASE AND MAFFUCCI SYNDROME? AN IN-DEPTH ANALYSIS OF THE LITERATURE

(2009) Adrianna Ranger et al.   NEUROSURGERY

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Glioma-Derived Mutations in IDH1 Dominantly Inhibit IDH1 Catalytic Activity and Induce HIF-1 

(2009) S. Zhao et al.   SCIENCE

Assessment of Interobserver Variability and Histologic Parameters to Improve Reliability in Classification and Grading of Central Cartilaginous Tumors

(2008) Daniël Eefting et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

PTHR1 mutations associated with Ollier disease result in receptor loss of function

(2008) Alain Couvineau et al.   HUMAN MOLECULAR GENETICS

Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease

(2008) Mohammad Sami Walid et al.   JOURNAL OF NEURO-ONCOLOGY

Acute myelogenous leukemia associated with Ollier disease

(2006) Matthew S. White et al.   PEDIATRIC BLOOD & CANCER