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Year Number of Results
2001 1
2003 1
2004 1
2005 3
2006 3
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2008 5
2009 1
2011 4
2012 2
2013 5
2014 3
2015 2
2016 1
2018 2
2019 4
2020 1
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Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization.
Locke DP, Segraves R, Carbone L, Archidiacono N, Albertson DG, Pinkel D, Eichler EE. Locke DP, et al. Genome Res. 2003 Mar;13(3):347-57. doi: 10.1101/gr.1003303. Genome Res. 2003. PMID: 12618365 Free PMC article.
Large-scale genomic rearrangements are a major force of evolutionary change and the ascertainment of such events between the human and great ape genomes is fundamental to a complete understanding of the genetic history and evolutio
Large-scale genomic rearrangements are a major force of evolutionary change and the ascertainment of such events betwee
Diagnostic implications of genetic copy number variation in epilepsy plus.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Coppola A, et al. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866059 Free PMC article.
METHODS: We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. ...Our data indicate that epilepsy with comorbid features should be considered an in …
METHODS: We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or sing …
Structural variant identification and characterization.
Balachandran P, Beck CR. Balachandran P, et al. Chromosome Res. 2020 Mar;28(1):31-47. doi: 10.1007/s10577-019-09623-z. Epub 2020 Jan 6. Chromosome Res. 2020. PMID: 31907725 Free PMC article.
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. ...Large-scale SV analyses have been enabled by high-throughput genome-level sequencing on humans
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual …
Genetic Analysis of Copy Number Variation in Large Chorangiomas.
Sirotkina M, Douroudis K, Westgren M, Papadogiannakis N. Sirotkina M, et al. Pediatr Dev Pathol. 2019 May-Jun;22(3):236-242. doi: 10.1177/1093526618811744. Epub 2018 Nov 14. Pediatr Dev Pathol. 2019. PMID: 30428272
The underlying molecular mechanisms of CAs are still poorly elucidated, and a systematic investigation of the genetic background of CAs has not previously been done. MATERIALS AND METHODS: Tissue biopsies from 8 large (>40 mm) histologically confirmed CAs and 8 unaffect …
The underlying molecular mechanisms of CAs are still poorly elucidated, and a systematic investigation of the genetic background of CAs has …
Characterization of canine osteosarcoma by array comparative genomic hybridization and RT-qPCR: signatures of genomic imbalance in canine osteosarcoma parallel the human counterpart.
Angstadt AY, Motsinger-Reif A, Thomas R, Kisseberth WC, Guillermo Couto C, Duval DL, Nielsen DM, Modiano JF, Breen M. Angstadt AY, et al. Genes Chromosomes Cancer. 2011 Nov;50(11):859-74. doi: 10.1002/gcc.20908. Epub 2011 Aug 11. Genes Chromosomes Cancer. 2011. PMID: 21837709
Evaluation of genomic signatures in human OS using array comparative genomic hybridization (aCGH) has assisted in uncovering genetic mechanisms that result in disease phenotype. ...Large scale screening of genomic imb …
Evaluation of genomic signatures in human OS using array comparative genomic hybridization (aCGH) …
The genomic basis of disease, mechanisms and assays for genomic disorders.
Stankiewicz P, Lupski JR. Stankiewicz P, et al. Genome Dyn. 2006;1:1-16. doi: 10.1159/000092496. Genome Dyn. 2006. PMID: 18724050 Review.
LCRs can stimulate and/or mediate constitutional (both recurrent and nonrecurrent), evolutionary, and somatic rearrangements. Recently, copy-number variations (CNVs), also referred to as large-scale copy-number variations (LCVs) or copy-number polymorp …
LCRs can stimulate and/or mediate constitutional (both recurrent and nonrecurrent), evolutionary, and somatic rearrangements. Recently, copy …
Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.
Qiao Y, Liu X, Harvard C, Nolin SL, Brown WT, Koochek M, Holden JJ, Lewis ME, Rajcan-Separovic E. Qiao Y, et al. BMC Genomics. 2007 Jun 12;8:167. doi: 10.1186/1471-2164-8-167. BMC Genomics. 2007. PMID: 17565693 Free PMC article.
BACKGROUND: Genomic copy number variants (CNVs) involving >1 kb of DNA have recently been found to be widely distributed throughout the human genome. They represent a newly recognized form of DNA variation in normal populations, discovered through s …
BACKGROUND: Genomic copy number variants (CNVs) involving >1 kb of DNA have recently been found to be widely distributed throughou …
Comparative genomic hybridization shows complex genomic changes of plasmacytoid urothelial carcinoma.
Keck B, Ellmann C, Stoehr R, Weigelt K, Goebell PJ, Kunath F, Taubert H, Hartmann A, Wullich B, Wach S. Keck B, et al. Urol Oncol. 2014 Nov;32(8):1234-9. doi: 10.1016/j.urolonc.2014.06.016. Epub 2014 Jul 30. Urol Oncol. 2014. PMID: 25087089
METHODS AND MATERIALS: In total, 25 formalin-fixed paraffin-embedded PUCs were analyzed by metaphase comparative genomic hybridization. Genomic imbalances were considered to be characteristic if they were detected in 20% of the cases. ...Gains on 11q, …
METHODS AND MATERIALS: In total, 25 formalin-fixed paraffin-embedded PUCs were analyzed by metaphase comparative genomic hy
Medical applications of array CGH and the transformation of clinical cytogenetics.
Shaffer LG, Bejjani BA. Shaffer LG, et al. Cytogenet Genome Res. 2006;115(3-4):303-9. doi: 10.1159/000095928. Cytogenet Genome Res. 2006. PMID: 17124414 Review.
Microarray-based comparative genomic hybridization (array CGH) merges molecular diagnostics with traditional chromosome analysis and is transforming the field of cytogenetics. ...In addition, copy number variants (CNVs) were identified in all st …
Microarray-based comparative genomic hybridization (array CGH) merges molecular diagnostics with traditional chr …
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Campbell IM, et al. PLoS Genet. 2013;9(9):e1003797. doi: 10.1371/journal.pgen.1003797. Epub 2013 Sep 26. PLoS Genet. 2013. PMID: 24086149 Free PMC article.
Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal genome. ...Analysis determined Bayes factors and posterior distributions for each gene. . …
Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of eve …
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