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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1983 2
1984 1
1985 1
1986 1
1987 3
1988 4
1989 2
1990 5
1991 7
1992 7
1993 7
1994 10
1995 7
1996 8
1997 9
1998 7
1999 5
2000 12
2001 16
2002 7
2003 11
2004 11
2005 24
2006 23
2007 20
2008 18
2009 22
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2013 40
2014 35
2015 35
2016 37
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2024 21

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742 results

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Page 1
NanoString nCounter Technology: High-Throughput RNA Validation.
Goytain A, Ng T. Goytain A, et al. Methods Mol Biol. 2020;2079:125-139. doi: 10.1007/978-1-4939-9904-0_10. Methods Mol Biol. 2020. PMID: 31728967
The technique works well with a variety of starting materials from fresh or formalin-fixed tissues, cell lysates or biological fluid samples. As low as 1 ng RNA input per sample is needed. In addition to gene expression, copy number variation, single nucleotide vari …
The technique works well with a variety of starting materials from fresh or formalin-fixed tissues, cell lysates or biological fluid …
Copy Number Variation in Inflammatory Breast Cancer.
Hazra A, O'Hara A, Polyak K, Nakhlis F, Harrison BT, Giordano A, Overmoyer B, Lynce F. Hazra A, et al. Cells. 2023 Apr 4;12(7):1086. doi: 10.3390/cells12071086. Cells. 2023. PMID: 37048158 Free PMC article.
RNA was amplified using the Sensation kit and profiled using the Affymetrix Human Transcriptome Array 2.0. DNA was profiled for genome-wide copy number variation (CNV) using the Affymetrix OncoScan Array and analyzed using the Nexus Chromosome Analysis Suite. ...Next, to a …
RNA was amplified using the Sensation kit and profiled using the Affymetrix Human Transcriptome Array 2.0. DNA was profiled for genome-wide …
Copy number variations in chronic pancreatitis.
Chen JM, Masson E, Le Maréchal C, Férec C. Chen JM, et al. Cytogenet Genome Res. 2008;123(1-4):102-7. doi: 10.1159/000184697. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287144 Review.
Interestingly, this hybrid gene had two independent gain-of-function effects: increased trypsinogen gene copy number and it contained the p.N29I pancreatitis-causing missense mutation. Lastly, we identified two loss-of-function copy number mutations (deletions) in t …
Interestingly, this hybrid gene had two independent gain-of-function effects: increased trypsinogen gene copy number and it contained …
Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Chun K, Wenger GD, Chaubey A, Dash DP, Kanagal-Shamanna R, Kantarci S, Kolhe R, Van Dyke DL, Wang L, Wolff DJ, Miron PM. Chun K, et al. Cancer Genet. 2018 Dec;228-229:236-250. doi: 10.1016/j.cancergen.2018.07.004. Epub 2018 Oct 16. Cancer Genet. 2018. PMID: 30554732 Review.
Interphase FISH panels have been the gold standard for cytogenetic evaluation, but conventional cytogenetics allows detection of additional abnormalities, including translocations, complex karyotypes and multiple clones. Whole genome copy number assessment, currently perfo …
Interphase FISH panels have been the gold standard for cytogenetic evaluation, but conventional cytogenetics allows detection of additional …
Convergent copy number increase of genes associated with freshwater colonization in fishes.
Ishikawa A, Yamanouchi S, Iwasaki W, Kitano J. Ishikawa A, et al. Philos Trans R Soc Lond B Biol Sci. 2022 Jul 18;377(1855):20200509. doi: 10.1098/rstb.2020.0509. Epub 2022 May 30. Philos Trans R Soc Lond B Biol Sci. 2022. PMID: 35634928 Free PMC article.
Copy number variation (CNV) can cause phenotypic changes. However, in contrast to amino acid substitutions and cis-regulatory changes, little is known about the functional categories of genes in which CNV is important for adaptation to novel environments. ...Using 48 ray-f …
Copy number variation (CNV) can cause phenotypic changes. However, in contrast to amino acid substitutions and cis-regulatory changes …
Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue.
Van der Linden M, Raman L, Vander Trappen A, Dheedene A, De Smet M, Sante T, Creytens D, Lievens Y, Menten B, Van Dorpe J, Van Roy N. Van der Linden M, et al. Arch Pathol Lab Med. 2019 Dec 17. doi: 10.5858/arpa.2019-0010-OA. Online ahead of print. Arch Pathol Lab Med. 2019. PMID: 31846367 Free article.
DESIGN.-: We selected samples from 21 patients, covering a range of different tumor entities. The performance of copy number detection was compared across 3 setups: array comparative genomic hybridization in combination with fresh material; copy number variat …
DESIGN.-: We selected samples from 21 patients, covering a range of different tumor entities. The performance of copy number detectio …
Molecular quantification for differentiation of fresh and dried Jinqian Baihua She.
Li C, Li F, Xie XN, Liang YS, Tian EW, Chao Z. Li C, et al. J Pharm Biomed Anal. 2023 Sep 5;233:115444. doi: 10.1016/j.jpba.2023.115444. Epub 2023 May 5. J Pharm Biomed Anal. 2023. PMID: 37163873
Herein we report a molecular quantification-based method for differentiation of fresh and dried JBS by determining the copy number of a specific DNA marker in the samples. ...Based upon Fisher discriminant analysis, we used 1.27 10(7) copies/mg as the cut-off value …
Herein we report a molecular quantification-based method for differentiation of fresh and dried JBS by determining the copy nu …
DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly.
Scheinin I, Sie D, Bengtsson H, van de Wiel MA, Olshen AB, van Thuijl HF, van Essen HF, Eijk PP, Rustenburg F, Meijer GA, Reijneveld JC, Wesseling P, Pinkel D, Albertson DG, Ylstra B. Scheinin I, et al. Genome Res. 2014 Dec;24(12):2022-32. doi: 10.1101/gr.175141.114. Epub 2014 Sep 18. Genome Res. 2014. PMID: 25236618 Free PMC article.
Detection of DNA copy number aberrations by shallow whole-genome sequencing (WGS) faces many challenges, including lack of completion and errors in the human reference genome, repetitive sequences, polymorphisms, variable sample quality, and biases in the sequencing proced …
Detection of DNA copy number aberrations by shallow whole-genome sequencing (WGS) faces many challenges, including lack of completion …
Genetics and psychotic disorders: A fresh look at consanguinity.
Dahdouh A, Taleb M, Blecha L, Benyamina A. Dahdouh A, et al. Eur J Med Genet. 2016 Feb;59(2):104-10. doi: 10.1016/j.ejmg.2015.12.010. Epub 2015 Dec 22. Eur J Med Genet. 2016. PMID: 26721321 Review.
A model implicating numerous rare variants has been supported by the recent discovery of CNVs (Copy Number Variants) and their statistically significant association with psychiatric disorders such as schizophrenia, bipolar disorders and autism. ...
A model implicating numerous rare variants has been supported by the recent discovery of CNVs (Copy Number Variants) and their statis …
Genome-wide copy number alterations detection in fresh frozen and matched FFPE samples using SNP 6.0 arrays.
Tuefferd M, De Bondt A, Van Den Wyngaert I, Talloen W, Verbeke T, Carvalho B, Clevert DA, Alifano M, Raghavan N, Amaratunga D, Göhlmann H, Broët P, Camilleri-Broët S. Tuefferd M, et al. Genes Chromosomes Cancer. 2008 Nov;47(11):957-64. doi: 10.1002/gcc.20599. Genes Chromosomes Cancer. 2008. PMID: 18663747
We present the use of Affymetrix GeneChip SNP6.0 for identification of copy number alterations in fresh frozen (FF) and matched FFPE samples. ...We observed better results using SNP probes than CNV probes for copy number analysis of FFPE material. This is the …
We present the use of Affymetrix GeneChip SNP6.0 for identification of copy number alterations in fresh frozen (FF) and matche …
742 results