Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The database is the first comprehensive integration of disparate cancer genome data like single nucleotide variants, single nucleotide polymorphisms, and chromosomal aberrations (CGH and FISH). 20127971 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The combination of microdissection and CGH enabled us to detect cytogenetic aberrations from important clones which are missed when analyzing DNA extracted from large cell numbers. 10214356 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Array CGH analysis reveals chromosomal aberrations in mouse lung adenocarcinomas induced by the human lung carcinogen 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. 16455056 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience. 24987674 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Therefore, a Gaussian pdf is not adequate to approximate the noise in array CGH data and hence introduces wrong detections of chromosomal aberrations and leads misunderstanding on disease pathogenesis. 28692986 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE More chromosome abnormalities are detected by conventional karyotyping compared to FISH or MLPA only (chromosome region specific techniques), and the same amount of abnormalities compared to QF-PCR (chromosome region specific techniques) and chromosomal-CGH and array-CGH (whole genome techniques) only. 22796359 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. 22965227 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The successful application of the CGH technique to the detection of aneuploidy in spontaneous abortions, demonstrates the utility of using this technique to screen prenatally for numerical chromosome abnormalities. 10215063 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. 23061379 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE These results lead to two conclusions: i) in the in vitro non-proliferating population of AML tumor cells one can detect cryptic chromosomal aberrations, which might constitute tumor markers of diagnostic and prognostic value; ii) The results of CGH need to be checked by other approaches. 16010415 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Patients with atypical values of HCG and/or PAPP-A are at higher risk of chromosomal abnormality and vascular complications of pregnancy. 31779618 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Array CGH is becoming an important clinical assay for unbalanced chromosome abnormalities whether cells grow in culture or not and in cases of analysis on one or few cells. 16088865 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE To explore the advantages and limitations of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of a fetus with anomalies and a chromosome abnormality. 18818501 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Array CGH has recently been used to perform a genome-wide screen for submicroscopic gains and losses in individuals with a normal karyotype but with features suggestive of a chromosome abnormality. 16283669 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE In order to investigate the patterns of chromosomal aberrations in gastric carcinomas, we performed genome-wide microarray based comparative genomic hybridisation (microarray CGH). 15623941 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The Cancer Chromosomes database integrates the SKY/M-FISH & CGH Database with the Mitelman Database of Chromosome Aberrations in Cancer and the Recurrent Chromosome Aberrations in Cancer database. 15934046 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Fast approach for clarification of chromosomal aberrations by using LM-PCR and FT-CGH in leukaemic sample. 21986343 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Eighteen children with acute myeloid leukemia (AML) (n=15) or myelodysplastic syndrome (MDS) (n=3) were studied using CGH+SNP microarray to evaluate the clinical significance of submicroscopic chromosomal aberrations. 25045224 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Chromosomal aberrations in bladder cancer: fresh versus formalin fixed paraffin embedded tissue and targeted FISH versus wide microarray-based CGH analysis. 21909424 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Unlike metaphase CGH, the high resolution of array CGH in subtelomeric regions allows an accurate description of chromosomal aberrations. 21145667 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE These results demonstrate that array-CGH is a powerful tool to screen MS tissue for unbalanced genomic abnormalities, allowing identification of chromosome abnormalities when concurrent BM is nonanalyzable or nonleukemic. 16080198 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Our array CGH analysis detected an average of 83 chromosomal aberrations in 13 cases, ranging from 0 to 387. 24952511 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases. 27910033 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Promising approaches and molecular markers include gene expression profiles, DNA ploidy, loss of heterozygosity and chromosomal aberrations as detected by CGH and FISH (1q, 17p, 17q), as well as oncogenes/ tumor suppressor genes and their proteins (TP53, PTEN, c-erbB2, N-myc, c-myc), growth factor and hormonal receptors (PDGFRA, VEGF, EGFR, HER2, HER4, ErbB-2, hTERT, TrkC), cell cycle genes (p27) and cell adhesion molecules, as well as factors potentially related to therapeutic resistance (multi-drug resistance, DNA topoisomerase IIalpha, metallothionein, P-glycoprotein, tenascin). 15624758 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Screening large patient cohorts with mental retardation by array CGH has recently lead to the characterization of many novel microdeletion and microduplication syndromes, initially according to the shared cytogenetic aberrations, with secondary characterization of the corresponding phenotypes. 18512078 2008