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TranscriptomicsAffymetrix SNP6.0 on Ollier disease-related tumors
Mutations in the PTH1R gene were reported but these mutations are limited to a small subgroup of patients. The etiology of Ollier disease is unknown. We therefore undertook genome-wide copy number and loss of heterozygosity (LOH) analysis using Affymetrix SNP 6.0 arrays on 37 tumors of 28 Ollier pat...
ORGANISM(S): Homo sapiens 
2011-08-26 | E-GEOD-22984 | biostudies-arrayexpress
TranscriptomicsGenome-wide analysis of Ollier disease: Is it all in the genes?
This SuperSeries is composed of the following subset Series: GSE22855: Comparison of enchondromas with controls (growth plate and cartilage) GSE22984: Affymetrix SNP6.0 on Ollier disease-related tumors Refer to individual Series
ORGANISM(S): Homo sapiens 
2011-08-25 | E-GEOD-22965 | biostudies-arrayexpress
TranscriptomicsComparison of enchondromas with controls (growth plate and cartilage)
Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (EC), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetric distribution. The risk of malignant transformation towards central chondrosarcoma (CS) is ...
ORGANISM(S): Homo sapiens 
2011-08-25 | E-GEOD-22855 | biostudies-arrayexpress
TranscriptomicsExamination of Ollier Disease and Maffucci Syndrome using IDH Tiling Array
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier) combined with spindle cell hemangiomas (Maffucci). We found somatic heterozygous IDH1 mutations (R132C and R132H) in 83% of enchondromas, benign cartilage tumors, as well as in ...
ORGANISM(S): Homo sapiens 
2011-11-05 | E-GEOD-30354 | biostudies-arrayexpress
TranscriptomicsSomatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell haemangioma in Ollier disease and Maffucci syndrome
This SuperSeries is composed of the following subset Series: GSE30354: Examination of Ollier Disease and Maffucci Syndrome using IDH Tiling Array GSE30835: mRNA expression data of tumor samples with/without IDH1/2 mutations GSE31337: Methylation profiling of enchondromas with and without IDH1 mutati...
ORGANISM(S): Homo sapiens 
2011-11-05 | E-GEOD-30844 | biostudies-arrayexpress
UnknownLoss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Not available
S-EPMC3077396 | biostudies-literature
TranscriptomicsMethylation profiling of enchondromas with and without IDH1 mutations
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorderscharacterized by multiple enchondromas (Ollier disease) combined with spindle cellhemangiomas (Maffucci syndrome). Somatic heterozygous IDH1 (R132C and R132H) orIDH2 (R172S) mutations were found in 87% of enchondromas, benign ...
ORGANISM(S): Homo sapiens 
2011-11-05 | E-GEOD-31337 | biostudies-arrayexpress
TranscriptomicsExpression array using Maffucci tumours
We did whole genome analysis of enchondromas and chondrosarcomas of Maffucci patients. Since the disease is very rare, we had only three frozen tumour samples were available to continue with the expression array. Enchondromas of Maffucci syndrome did not show any loss of heterozygosity (LOH) or comm...
ORGANISM(S): Homo sapiens 
2011-07-18 | E-GEOD-26667 | biostudies-arrayexpress
TranscriptomicsmRNA expression data of tumor samples with/without IDH1/2 mutations and of controls
We determined differentially expressed genes between tumor samples with and without IDH1/2 mutations, and between tumors with IDH1/2 mutations and controls. A total of 21 tumours which include 6 enchondromas and 10 chondrosarcomas (3 grade I, 7 grade II) of Ollier disease, as well as 1 enchondroma a...
ORGANISM(S): Homo sapiens 
2011-11-05 | E-GEOD-30835 | biostudies-arrayexpress
UnknownRisk of breast cancer in the UK biobank female cohort and its relationship to anthropometric and reproductive factors.
Not available
S-EPMC6062099 | biostudies-literature
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