|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The use of these combined methodologies has resulted in the first reported case in which array CGH has been used to characterize a congenital chromosomal abnormality, highlighting the need for innovative molecular cytogenetic techniques in the diagnosis of patients with idiopathic neurological abnormalities.
|
12794705 |
2003 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum.
|
30581343 |
2018 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Cytogenetic and CGH studies have identified frequent gross chromosomal aberrations but the target genes of these changes are unknown.
|
15864317 |
2005 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Array-CGH has become an important tool for the detection of chromosome aberrations and has the potential to identify genes involved in developmental delay and dysmorphism.
|
16141005 |
2005 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The clustering of MSI-H tumors in global CGH data analysis suggests that chromosomal aberrations are not random.
|
22879877 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Using array-CGH, the present study aimed to explore genome-wide profiles of chromosomal aberrations in samples of oral cancer (OC), oral submucous fibrosis (OSF) and their corresponding normal oral mucosa from Indian (n=18) and OC from Sri Lankan (n=12) patients with history of BQ use, and correlate the findings to other clinicopathological parameters.
|
24969693 |
2015 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
SNP array, array CGH and FISH were useful for the complete characterization of the chromosomal aberrations, for the detection of microdeletions in patients with normal karyotype but with strong clinical suspicious of chromosomal alteration, and for a better establishment of genotype-phenotype correlation.
|
31730496 |
2019 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Etiologic influence on chromosomal aberrations in European hepatocellular carcinoma identified by CGH.
|
23706943 |
2013 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We concluded that array CGH is a highly suitable method for identifying recurrent chromosomal anomalies in GCTs of neonates and infants.
|
15880464 |
2005 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Array CGH has been applied to detect chromosomal aberrations in cancer and genetic diseases.
|
17321327 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Array CGH analysis revealed a significant correlation between LINE-1 hypomethylation and chromosomal aberrations.
|
20978145 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Microarray-based comparative genomic hybridization (array-CGH) is considered to be superior for the investigation of chromosomal aberrations in children with MR, and has been demonstrated to improve the diagnostic detection rate of these small chromosomal abnormalities.
|
17901693 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The identification and characterisation of chromosome abnormalities as translocations, deletions and duplications by classical cytogenetic methods or by the newly developed microarray-based comparative genomic hybridisation (array CGH) technique may define extensions and borders of the genomic regions involved.
|
17661092 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In fresh frozen tissue from a set of colorectal tumors with numerous chromosomal aberrations, our method measures copy number patterns that are comparable to values from established platforms, like Affymetrix GeneChip and BAC array-CGH.
|
17267813 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
This case illustrates the utility of array CGH in characterizing complex constitutional structural chromosome abnormalities at the molecular level.
|
15151506 |
2004 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results show that the use of oligonucleotide-based array- CGH in a clinical diagnostic laboratory increases the detection rate of pathogenic submicroscopic chromosomal aberrations in patients with mental retardation and congenital abnormalities, but it also presents challenges for clinical interpretation of the results (i.e., distinguishing between pathogenic and benign variants).
|
22123463 |
2011 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Using robust algorithms including multiple testing procedures and the ACE-it script, which is specifically designed for this task, the array CGH data were combined with gene expression data to explore pathways deregulated by chromosomal aberrations.
|
18729069 |
2008 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
High-resolution molecular cytogenetic techniques such as genomic array CGH and MLPA detect submicroscopic chromosome aberrations in patients with unexplained mental retardation.
|
17124405 |
2006 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Array CGH revealed shared chromosomal aberrations in the patient tumors and PDX.
|
26041878 |
2015 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Detection of chromosomal aberrations from a single cell by array comparative genomic hybridization (single-cell array CGH), instead of from a population of cells, is an emerging technique.
|
21854607 |
2011 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained.
|
25203518 |
2015 |