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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
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
UnknownDisruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Not available
S-EPMC9767349 | 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
UnknownProtocol for the e-POWUS Project: multicentre blinded-randomised controlled trial of ultrasound speed choice to improve sonography quality in pregnant women with obesity.
Not available
S-EPMC8458366 | biostudies-literature
UnknownNature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life.
Not available
S-EPMC11530639 | biostudies-literature
TranscriptomicsMammary gene expression profile of goats receiving high or low forage diets supplemented or not with lipids
Animal nutrition considerably affects milk composition that influences its nutritional quality. Milk component synthesis and secretion by the mammary gland involve the expression of a large number of genes whose nutritional regulation remains poorly defined. In this study, 16 lactating goats receive...
ORGANISM(S): Capra hircus 
2009-11-29 | E-GEOD-11592 | biostudies-arrayexpress
UnknownSingle crystal growth, optical absorption and luminescence properties under VUV-UV synchrotron excitation of type III Pr3+:KGd(PO3)4.
Not available
S-EPMC7174386 | biostudies-literature
UnknownSomatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.
Not available
S-EPMC6971203 | biostudies-literature
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