Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. 30581099 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus. 29848116 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD. 27157524 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. 27072107 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. 26909975 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Array CGH and SNP genotyping have identified several CNVs on X-chromosome in patients with X-linked intellectual disability. 26358363 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. 26486473 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE A-CGH and whole exome sequencing increase etiologic diagnoses rate up to 30% in case of ID. 26691665 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. 26395556 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %). 24985125 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. 26112959 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation. 24279999 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. 25016475 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). 24291026 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? 22283495 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive. 24142652 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. 23524024 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. 23035971 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE We retrospectively reviewed genome wide array-CGH data in order to determine the frequency and nature of chromosome X-copy number variations (X-CNV) in a cohort of 2222 sporadic male patients with intellectual disability (ID) referred to us for diagnosis. 22659343 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE 16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer. 22326525 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation. 22583828 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE We suggest that CGH microarray should be performed in cases with intractable epilepsy or schizophrenia, with or without mental retardation. 21145272 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features. 21145667 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Array-CGH study of partial trisomy 9p without mental retardation. 21626676 2011