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Abbreviation : aCGH
Long Form : array CGH
No. Year Title Co-occurring Abbreviation
2020 FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family. ASD, ESDM, WGS
2020 Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports. CNVs, NIPT
2020 Ultra-low depth sequencing of plasma cell DNA for the detection of copy number aberrations in multiple myeloma. BM, CNA, LDS, MM, NGS, PC
2019 Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome. RFS, WTs
2018 Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects. AVSD, CNVs, DS, DS+AVSD
2018 Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. CNVs, IUGR, MCA, NDD, VOUS
2016 Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. ABS, CGH, CNVs, SNVs
2016 DNA copy number alterations, gene expression changes and disease-free survival in patients with colorectal cancer: a 10 year follow-up. CNAs, CRCs, GE
2016 New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. ASD, CNVs, ID, MCA, VOUS
10  2016 Phenylethanolamine N-methyltransferase downregulation is associated with malignant pheochromocytoma/paraganglioma. PCC/PGL, PNMT
11  2015 DYRK1A mutations in two unrelated patients. DYRK1A, ID, NGS
12  2015 Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH. CNVRs, CNVs
13  2015 Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization. BAC, PGD, PGS
14  2015 Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord. RGNT
15  2014 A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus. CNVs, GAGs, IDS
16  2014 Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material. ATRT, AURKA, ES
17  2014 Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). FISH, WHS
18  2013 A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review. ID
19  2013 Copy number alterations in small intestinal neuroendocrine tumors determined by array comparative genomic hybridization. CN, qPCR, SI-NETs
20  2013 Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study. GBM
21  2013 Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings. ---
22  2013 Striking similarities in genetic aberrations between a rectal tumor and its lung recurrence. ---
23  2013 Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome? PKS
24  2013 TMPRSS2-ERG status is not prognostic following prostate cancer radiotherapy: implications for fusion status and DSB repair. CGH, GS, IGRT, IHC, PSA, TMA
25  2013 Ultradense array CGH and discovery of micro-copy number alterations and gene fusions in the cancer genome. CNAs, NGS
26  2012 Identification of genome-wide copy number variations among diverse pig breeds by array CGH. CNV, CNVRs, qPCR
27  2012 Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. SET
28  2011 A hidden Markov model-based algorithm for identifying tumour subtype using array CGH data. HMM, HMMC
29  2011 Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects. ---
30  2011 Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. FISH, IL-2R, qPCR
31  2010 Unfavorable prognosis of CRTC1-MAML2 positive mucoepidermoid tumors with CDKN2A deletions. MEC
32  2009 A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. ---
33  2009 Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis. UL
34  2009 [Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]. HR-CGH
35  2008 Sequence based high resolution chromosomal CGH. cCGH, CMA3, Mb
36  2008 [Array-CGH for routine diagnosis of cryptic chromosomal imbalances]. CNV
37  2007 Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. CCRs, FISH, HR-CGH
38  2007 FOXG1 dysregulation is a frequent event in medulloblastoma. cCGH
39  2007 Identification and characterization of DNA imbalances in neuroblastoma by high-resolution oligonucleotide array comparative genomic hybridization. mCGH, NB
40  2006 Array CGH using whole genome amplification of fresh-frozen and formalin-fixed, paraffin-embedded tumor DNA. FFPE, WGA
41  2006 Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization. DFSP
42  2006 New Insights into the Cellular Pathways Affected in Primary Uterine Leiomyosarcoma. ULMS
43  2003 Combined array comparative genomic hybridization and tissue microarray analysis suggest PAK1 at 11q13.5-q14 as a critical oncogene target in ovarian carcinoma. mCGH