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ProteomicsDemonstration of a complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis
Genetic diagnosis plays a central role in the clinical management of patients with inborn errors of immunity (IEI). We proposed a novel method for diagnosing IEI using PBMC proteomics integrated with targeted RNA sequencing, providing notable insights into the pathogenesis of IEI. Data-independent a...
ORGANISM(S): Homo Sapiens (human) 
2023-11-25 | PXD038352 | JPOST Repository
TranscriptomicsExpression data from ALL diagnosis and relapse pediatric acute lymphoblastic leukemia cases
There is a distinct signature of differentially expressed probes from diagnosis to relapse Gene expression profiles of pediatric patients with B-precursor ALL were compared to at 2 time points, diagnosis and relapse. The overall design was a comparison of gene expression at diagnosis and relapse wit...
ORGANISM(S): Homo sapiens 
2011-09-23 | E-GEOD-28460 | biostudies-arrayexpress
TranscriptomicsDiagnosis-relapse in ALL
Almost a quarter of pediatric patients with Acute Lymphoblastic Leukemia (ALL) suffer from relapses. The biological mechanisms underlying therapy response and development of relapses have remained unclear. In an attempt to better understand this phenomenon, we have analyzed 41 matched diagnosis rel...
ORGANISM(S): Homo sapiens 
2010-03-23 | E-GEOD-18497 | biostudies-arrayexpress
TranscriptomicsStaging of biliary atresia at diagnosis by molecular profiling of the liver
BACKGROUND: Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis...
ORGANISM(S): Homo sapiens 
2010-08-31 | E-GEOD-15235 | biostudies-arrayexpress
TranscriptomicsMolecular diagnosis of T cell and/or antibody-mediated rejection in human kidney transplant biopsies
Histologic diagnosis of T cell-mediated rejection in kidney transplant biopsies has limited reproducibility because it is based on non-specific lesions using arbitrary rules that are subject to differing interpretations. We used microarray results from 403 indication biopsies previously given histol...
ORGANISM(S): Homo sapiens 
2013-02-13 | E-GEOD-36059 | biostudies-arrayexpress
ProteomicsIdentification of novel biomarker candidates for the immunohistochemical diagnosis of cholangiocellular carcinoma - LC-MS Part
The aim of this study was the identification of biomarkers for the immunohistochemical diagnosis of cholangiocellular carcinoma (CCC). CCC is a primary cancer which arises from the epithelial cells of the bile ducts and is characterised by high mortality rates due to its late clinical presentation a...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000082885 | MassIVE
ModelsYangziChen2024 - Metabolic Machine Learning Predictor Model for Diagnosis of Gastric Cancer
The paper "Metabolomic Machine Learning Predictor for Diagnosis and Prognosis of Gastric Cancer" addresses the need for non-invasive diagnostic tools for gastric cancer (GC). Traditional methods like endoscopy are invasive and expensive. The authors conducted a targeted metabolomics analysis of 702 ...
2024-07-23 | MODEL2407230001 | BioModels
Machine Learning Model 
TranscriptomicsTranscription profiling of human samples to identify markers for early diagnosis of of endoprosthesis loosening
The aim of the study was to identify markers for the early diagnosis of endoprosthesis loosening, for the differentiation between wear-particle induced and septic loosening, as well as to gather new insights into the pathogenesis. 824 genes were differentially expressed with a fold change greater th...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7103 | biostudies-arrayexpress
TranscriptomicscaArray_golub-00236: Multiclass cancer diagnosis using tumor gene expression signatures
The optimal treatment of patients with cancer depends on establishing accurate diagnoses by using a complex combination of clinical and histopathological data. In some instances, this task is difficult or impossible because of atypical clinical presentation or histopathology. To determine whether th...
ORGANISM(S): Homo sapiens 
2015-05-16 | E-GEOD-68928 | biostudies-arrayexpress
TranscriptomicsSNP arrays in matched diagnosis/remission samples of normal karyotype-acute myeloid leukemia
We analysed, by last-generation high-resolution SNP arrays, Normal Karyotype (NK)-AML patients at diagnosis (Dx) and remission (R) phases, in order to determine the number of tumor-associated copy number abnormalities (CNAs) and copy neutral-loss of heterozygosity (CN-LOH) regions per patient and to...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21780 | biostudies-arrayexpress
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