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Array CGH analysis of a cohort of Russian patients with intellectual disability.

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第一作者: Anna A,Kashevarova
第一单位: Institute of Medical Genetics, Tomsk, Russia. Electronic address: anna.kashevarova@medgenetics.ru.
作者单位: Institute of Medical Genetics, Tomsk, Russia. Electronic address: anna.kashevarova@medgenetics.ru. [1] Institute of Medical Genetics, Tomsk, Russia. [2] University of Bologna, Bologna, Italy. [3] Vilnius University, Department of Human and Medical Genetics, Vilnius, Lithuania. [4]
关键词 ABLIM3ACAD10ADHDAFAP1L1AGAASTN1Array comparative genomic hybridization (array CGH)CASP3CGHCHERISHCNSCNTN6CNVCopy number variation (CNV)DDX10DEAD (Asp-Glu-Ala-Asp) box polypeptide 10DECIPHEREEGEUEuropean UnionFJX1GLRA3HAND2HFEIDIFNIL17BING2IQIRF1IRF2Intellectual disabilityLDLRAD3METTL4MMP14MMSsMRINDC80NDC80 kinetochore complex componentNEIL3NOOMIMPCRPL CNSPON1PON2PON3SBFSCGNSCRG1SET domain binding factorSLC1A2SLC5A7SLC7A7SMCHD1SUFUSWAP switching B-cell complex 70kDa subunitSWAP70Ski-related novel protein NSnoNTGFβTNRTRIM44WAGRWilms tumor, aniridia, genitourinary anomalies and mental retardation syndromeactin binding LIM protein family, member 3actin filament associated protein 1-like 1acyl-CoA dehydrogenase family, member 10aspartylglucosaminidaseastrotactin 1attention-deficit hyperactivity disordercaspase 3, apoptosis-related cysteine peptidasecentral nervous systemcomparative genomic hybridizationcontactin 6copy number variationdatabase of chromosomal imbalance and phenotype in humans using ensembl resourceselectroencephalogramfour jointed box 1 (Drosophila)glycine receptor, alpha 3grant of European Community's Seventh Framework Programmeheart and neural crest derivatives expressed 2hemochromatosisinhibitor of growth family, member 2intellectual disabilityintelligence quotientinterferoninterferon regulatory factor 1interferon regulatory factor 2interleukin 17Blow density lipoprotein receptor class A domain containing 3magnetic resonance imagingmatrix metallopeptidase 14 (membrane-inserted)methyltransferase like 4microdeletion/microduplication syndromesnei endonuclease VIII-like 3 (E. coli)nitrogen oxideonline mendelian inheritance in manparaoxonase 1paraoxonase 2paraoxonase 3perinatal lesion of central nervous systempolymerase chain reactionqPCRquantitative PCRsecretagogin, EF-hand calcium binding proteinsolute carrier family 1 (glial high affinity glutamate transporter), member 2solute carrier family 5 (sodium/choline cotransporter), member 7solute carrier family 7 (amino acid transporter light chain, y+L system), member 7stimulator of chondrogenesis 1structural maintenance of chromosomes flexible hinge domain containing 1suppressor of fused homolog (Drosophila)tenascin Rtransforming growth factor betatripartite motif containing 44
DOI 10.1016/j.gene.2013.11.029
PMID 24291026
发布时间 2022-03-18
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