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Longer titles found: 1q21.1 copy number variations (view)

searching for Copy number variation 89 found (159 total)

alternate case: copy number variation

Charles Lee (scientist) (1,692 words) [view diff] exact match in snippet view article

Carter NP, Stone AC*, Lee C*. Diet and the evolution of human gene copy number variation. Nat Genet. 2007; 39: 1256-60 *Co-senior authors 2007: Lee C, Iafrate
Representation oligonucleotide microarray analysis (416 words) [view diff] exact match in snippet view article find links to article
currently run laboratories at CSHL using ROMA to explore genomic copy number variation in cancer and other genetic diseases. In this technique, two genomes
8p23.1 duplication syndrome (777 words) [view diff] exact match in snippet view article find links to article
be distinguished using conventional cytogenetics from high level copy number variation of the repeats themselves. Both de novo cases and families with
Happy mapping (422 words) [view diff] no match in snippet view article find links to article
mapping has also been adapted to allow the precise analysis of copy-number variation, and in particular the analysis of copy-number changes in cancer
Structural variation in the human genome (3,721 words) [view diff] exact match in snippet view article find links to article
of copy number variants in the human genome. It was known that copy number variation in the human genome is important but at this point of time, it had
GJC2 (714 words) [view diff] exact match in snippet view article find links to article
Uhlenberg B (2009). "Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease"
Chilodonella uncinata (1,406 words) [view diff] exact match in snippet view article find links to article
PMID 17890762. Spring, KS; Pham, S; Zufall, RA (2013). "Chromosome copy number variation and control in the ciliate Chilodonella uncinata". PLOS ONE. 8 (2):
Short interspersed nuclear element (5,253 words) [view diff] exact match in snippet view article find links to article
making them useful markers of divergent evolution between species. Copy number variation and mutations in the SINE sequence make it possible to construct
Fc fragment of igg receptor iic (gene/pseudogene) (586 words) [view diff] exact match in snippet view article
M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW (2008). "Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic
Wellcome Sanger Institute (3,770 words) [view diff] case mismatch in snippet view article find links to article
Consortium SNP (Single nucleotide polymorphism) Consortium The Copy Number Variation Project The genome sequencing of S. pombe, C. elegans, mouse and
Zinc transporter ZIP9 (2,400 words) [view diff] no match in snippet view article find links to article
Krumm N, Lee MK (October 2013). "Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia". The American Journal
Amylase (2,505 words) [view diff] exact match in snippet view article find links to article
AC (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–1260. doi:10.1038/ng2123. PMC 2377015
Alpha-amylase (1,922 words) [view diff] exact match in snippet view article find links to article
AC (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015
PRR23C (800 words) [view diff] case mismatch in snippet view article find links to article
Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the b-Defensin-2 Gene". Genome Biology and Evolution. 6 (11):
Hemoglobinopathy (1,857 words) [view diff] exact match in snippet view article find links to article
are in ferrous state within the same tetrameric haemoglobin unit. Copy number variation (e.g., deletion, duplication, insertion) is also a common genetic
Bio-Rad Laboratories (621 words) [view diff] exact match in snippet view article find links to article
scientists to distinguish rare sequences in tumors and precisely measure copy number variation. Today the company has direct distribution channels in over 35 countries
Michael Wigler (2,176 words) [view diff] exact match in snippet view article find links to article
microarray analysis: a high –resolution method to detect genome copy number variation." Genome Research 13: 2291-2305. PMC 403708 Sebat, J., Muthuswamy
Evdokia Anagnostou (891 words) [view diff] exact match in snippet view article find links to article
of General Psychiatry. 2009. Glessner et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009. Pinto et al
Stephen W. Scherer (1,896 words) [view diff] exact match in snippet view article find links to article
Scholar Citation Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. Google Scholar citation
Molecular cytogenetics (1,701 words) [view diff] exact match in snippet view article find links to article
cell division, which is the most informative time for observing copy number variation. CGH uses creates a map that shows the relative abundance of DNA
Ultra-conserved element (917 words) [view diff] exact match in snippet view article find links to article
hepatocellular carcinoma cells. Indeed, UCEs are often affected by copy number variation in cancer cells, much more than in healthy contexts, suggesting
Gene duplication (3,171 words) [view diff] exact match in snippet view article find links to article
species investigated. This is indicated by variable copy numbers (copy number variation) in the genome of humans or fruit flies. However, it has been difficult
DEFB104A (591 words) [view diff] exact match in snippet view article find links to article
Hollox EJ, Armour JA, Barber JC (September 2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". American Journal
List of biological databases (2,306 words) [view diff] exact match in snippet view article find links to article
using high-throughput techniques such as gene expression profiling, copy number variation profiling, SNP genotyping, genome-wide DNA methylation profiling
CDK5RAP2 (1,236 words) [view diff] exact match in snippet view article find links to article
Cox M, Hopkins J, Pollack JR, Sikela JM (September 2007). "Gene copy number variation spanning 60 million years of human and primate evolution". Genome
Zinc transporter ZIP12 (2,872 words) [view diff] exact match in snippet view article find links to article
Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, et al. (2014). "Copy number variation in Han Chinese individuals with autism spectrum disorder". Journal
DEFA4 (833 words) [view diff] exact match in snippet view article find links to article
PMID 19135873. Milanese M, Segat L, Arraes LC, et al. (2009). "Copy number variation of defensin genes and HIV infection in Brazilian children". J. Acquir
DEFB105A (497 words) [view diff] exact match in snippet view article find links to article
PMID 15588320. Hollox EJ, Armour JA, Barber JC (2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". Am. J. Hum. Genet
Olfactory receptor (4,265 words) [view diff] exact match in snippet view article find links to article
025. PMID 15716120. Nozawa M, Nei M (2008). "Genomic drift and copy number variation of chemosensory receptor genes in humans and mice". Cytogenetic
Phosphatidylserine synthase 1 (363 words) [view diff] exact match in snippet view article find links to article
AREG genes are implicated in a Lebanese population-based study of copy number variation in autism". Sci Rep. 6: 19088. doi:10.1038/srep19088. PMC 4705475
FEZF1 (611 words) [view diff] exact match in snippet view article find links to article
Monaco AP (September 2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
DEFA3 (350 words) [view diff] exact match in snippet view article find links to article
gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. ENSG00000284835 GRCh38: Ensembl release 89: ENSG00000239839, ENSG00000284835
Klaus-Peter Lesch (382 words) [view diff] exact match in snippet view article find links to article
H, Warnke A, Reif A, Ropers HH, Ullmann R (2011). "Genome-wide copy number variation analysis in ADHD: association with neuropeptide Y gene dosage in
SPANXB1 (556 words) [view diff] exact match in snippet view article find links to article
the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear
CDY1 (752 words) [view diff] exact match in snippet view article find links to article
YB, Li X, Zhang F, Wang DM, Yu J (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z
DLGAP2 (935 words) [view diff] exact match in snippet view article find links to article
Merico D, Regan R, et al. (2010). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–72. doi:10
DEFB106A (610 words) [view diff] exact match in snippet view article find links to article
PMID 12734011. Hollox EJ, Armour JA, Barber JC (2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". Am. J. Hum. Genet
Starch (5,988 words) [view diff] exact match in snippet view article find links to article
A; et al. (2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015
SRGAP2 (769 words) [view diff] exact match in snippet view article find links to article
Bruhn L, Shendure J, Eichler EE (October 2010). "Diversity of human copy number variation and multicopy genes". Science. 330 (6004): 641–6. Bibcode:2010Sci
DPP10 (792 words) [view diff] no match in snippet view article find links to article
EE (February 2013). "Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder". Am. J. Hum. Genet. 92
Psoralen (2,585 words) [view diff] exact match in snippet view article find links to article
in Saccharomyces cerevisiae: defects in DNA repair increase gene copy number variation". DNA Repair (Amst.). 21: 87–96. doi:10.1016/j.dnarep.2014.05.011
TNNI3K (631 words) [view diff] exact match in snippet view article find links to article
Chen S, Hu L, Kong X (2010). "Novel association strategy with copy number variation for identifying new risk Loci of human diseases". PLOS ONE. 5 (8):
Neuregulin 3 (2,540 words) [view diff] exact match in snippet view article find links to article
"Faculty of 1000 evaluation for Functional impact of global rare copy number variation in autism spectrum disorders". doi:10.3410/f.3862963.3600063. Cite
Myomegalin (983 words) [view diff] exact match in snippet view article find links to article
Cox M, Hopkins J, Pollack JR, Sikela JM (September 2007). "Gene copy number variation spanning 60 million years of human and primate evolution". Genome
Single-cell analysis (4,998 words) [view diff] exact match in snippet view article find links to article
analysis, thanks to its very low Allelic Dropout effect, and for copy number variation profiling due to its low noise, both with aCGH and with NGS low
PDPR (559 words) [view diff] exact match in snippet view article find links to article
S, Hu L, Kong X (August 2010). "Novel association strategy with copy number variation for identifying new risk Loci of human diseases". PLOS ONE. 5 (8):
ARHGAP11B (566 words) [view diff] exact match in snippet view article find links to article
Malig M, Tsalenko A, et al. (October 2010). "Diversity of human copy number variation and multicopy genes". Science. 330 (6004): 641–6. doi:10.1126/science
SETBP1 (1,414 words) [view diff] exact match in snippet view article find links to article
BB, Romano C, Eichler EE (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay".
DDX53 (862 words) [view diff] exact match in snippet view article find links to article
Sutcliffe JS, Betancur C (2010). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–72. doi:10
Y chromosome (6,835 words) [view diff] exact match in snippet view article find links to article
2017-05-20. Veerappa AM, Padakannaya P, Ramachandra NB (August 2013). "Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a
LIMS2 (478 words) [view diff] exact match in snippet view article find links to article
Kim NK, Yang WI, Chung HC (2015). "PINCH-2 presents functional copy number variation and suppresses migration of colon cancer cells by paracrine activity"
ASH1L (1,301 words) [view diff] exact match in snippet view article find links to article
A, Ginelli E, Tanaka Y, Gabellini D (2012). "A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy"
Center for Applied Genomics (2,614 words) [view diff] exact match in snippet view article find links to article
Glessner JT, Wang K, Cai G, et al. (May 2009). "Autism genome-wide copy number variation reveals ubiquitin and neuronal genes". Nature. 459 (7246): 569–73
LHFPL3 (gene) (319 words) [view diff] exact match in snippet view article
Bailey AJ, Monaco AP (2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
C-C motif chemokine ligand 3 like 3 (218 words) [view diff] exact match in snippet view article find links to article
zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. GRCh38:
Jan Schouten (geneticist) (795 words) [view diff] exact match in snippet view article
invented MLPA, a method for genetic testing. The method detects copy number variation in genes or parts of genes, an important cause for hereditary disorders
Tasmanian devil (13,757 words) [view diff] exact match in snippet view article find links to article
Jolanta; Cheng, Yuanyuan; Jones, Menna; et al. (2010). "MHC gene copy number variation in Tasmanian devils: Implications for the spread of a contagious
Magnesium transporter1 family (758 words) [view diff] no match in snippet view article find links to article
has been shown to be beneficial. Similarly, the identification of copy-number variation leading to dysfunctional MAGT1 in a family with atypical ATR-X syndrome
GNLY (2,210 words) [view diff] exact match in snippet view article find links to article
Lawhon SD, Skow LC, et al. (December 2015). "Bovine NK-lysin: Copy number variation and functional diversification". Proceedings of the National Academy
Organisms at high altitude (5,388 words) [view diff] exact match in snippet view article find links to article
Zhang, YB; Li; Zhang; Wang; Yu (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z
ENCODE (6,176 words) [view diff] exact match in snippet view article find links to article
replacement Chromatin structure DNA replication initiation and timing Copy number variation. modERN, short for the model organism encyclopedia of regulatory
Genome instability (4,532 words) [view diff] exact match in snippet view article find links to article
information of the n and n+1 repeat is virtually the same, leading to copy number variation. For example, the 16th copy of CGG might be mapped to the 13th copy
Louise Wain (715 words) [view diff] exact match in snippet view article find links to article
Louise V; Armour, John AL; Tobin, Martin D (2009-07-25). "Genomic copy number variation, human health, and disease". The Lancet. 374 (9686): 340–350. doi:10
Elective genetic and genomic testing (5,023 words) [view diff] exact match in snippet view article find links to article
genome for larger deletions or duplications (also referred to as copy number variation). This technology can not detect single letter changes or very small
Burnside-Butler syndrome (634 words) [view diff] exact match in snippet view article find links to article
Schuurs-Hoeijmakers, Janneke H. (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay".
SH2B3 (1,888 words) [view diff] exact match in snippet view article find links to article
genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24
Dual inheritance theory (8,401 words) [view diff] exact match in snippet view article find links to article
C. Lee, A. Stone. Diet and the evolution of human amylase gene copy number variation. Nature Genetics 39:1256-1260. Boyd, R. and P. J. Richerson. 1985
Andreas Buja (598 words) [view diff] exact match in snippet view article find links to article
Association, 89, 1255–1270 (1994). “Rare de novo and transmitted copy number variation in autistic spectrum disorders,” Levy, D., Ronemus, M., Yamrom,
Dendrocyte expressed seven transmembrane protein (575 words) [view diff] exact match in snippet view article find links to article
Kim HY, Cho S, Yu J, Sung S, Kim H (August 2010). "Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic
Xp11.2 duplication (3,260 words) [view diff] exact match in snippet view article find links to article
400 individuals with isolated or syndromic mental retardation for copy number variation, Giorda et al. (2009) identified 8 (0.33%) unrelated individuals
Somatic evolution in cancer (9,674 words) [view diff] exact match in snippet view article find links to article
Microsatellite shifts and instability, loss of heterozygosity (LOH), Copy number variation (detected both by comparative genomic hybridization (CGH), and array
Andrew Singleton (947 words) [view diff] no match in snippet view article find links to article
Zachary A.; Degnan, James H.; et al. (2008). "Genotype, haplotype and copy-number variation in worldwide human populations" (PDF). Nature. 451 (7181): 998–1003
Manuel Corpas (scientist) (1,426 words) [view diff] case mismatch in snippet view article
development of integration and visualisation tools for interpretation of Copy Number Variation datasets. A while later, he started his work in the ‘Corpasome’
Chromosome conformation capture (4,982 words) [view diff] exact match in snippet view article find links to article
detection and characterisation of chromosomal rearrangements and copy number variation in human tumours". Genome Biology. 18 (1): 125. doi:10.1186/s13059-017-1253-8
John Constantino (1,055 words) [view diff] case mismatch in snippet view article find links to article
Genome Project (AGP) Consortium - Whole Genome Association and Copy Number Variation Study of over 1,500 Parent-Offspring Trios - Stage I". www.ncbi
Icahn Genomics Institute (1,620 words) [view diff] exact match in snippet view article find links to article
personalized cancer therapy. Scientists in the program combine DNA, RNA, copy number variation, and other data from individual patients, and test some of the detected
Brett Abrahams (1,172 words) [view diff] exact match in snippet view article find links to article
J. S. Sutcliffe, C. Betancur, Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368 (Jul 15, 2010). Geschwind
Intelectin (2,263 words) [view diff] exact match in snippet view article find links to article
Knight PA, Whitelaw CB, Pemberton AD (2011). "Strain-specific copy number variation in the intelectin locus on the 129 mouse chromosome 1". BMC Genomics
Isodicentric 15 (2,256 words) [view diff] exact match in snippet view article find links to article
CGH can be used to determine the gene content and magnitude of copy number variation so that the clinical picture can be foreseen. Interstitial duplications
BAG3 (3,574 words) [view diff] exact match in snippet view article find links to article
Nickerson DA, Hershberger RE (Mar 2011). "Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of
DNA database (6,426 words) [view diff] no match in snippet view article find links to article
ajhg.2007.12.011. Epub 2008 Feb 14. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
Emmanouil Dermitzakis (1,778 words) [view diff] exact match in snippet view article find links to article
Tyler-Smith, Chris (2007-02-09). "Relative impact of nucleotide and copy number variation on gene expression phenotypes". Science. 315 (5813): 848–853. Bibcode:2007Sci
Helmy Eltoukhy (2,518 words) [view diff] exact match in snippet view article find links to article
Talasaz & Helmy Eltoukhy, "Methods to detect rare mutations and copy number variation", issued 2 Jan 2019, assigned to Guardant Health, Inc.  US9850523B1
High-altitude adaptation in humans (5,623 words) [view diff] exact match in snippet view article find links to article
YB, Li X, Zhang F, Wang DM, Yu J (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z
Facioscapulohumeral muscular dystrophy (12,502 words) [view diff] exact match in snippet view article find links to article
Casa, Casa; Bodega, B; et al. (May 11, 2012). "A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy"
Evolution of olfaction (5,695 words) [view diff] exact match in snippet view article find links to article
7122-7127. Nozawa M, Kawahara Y, Nei M. 2007. Genomic drift and copy number variation of sensory receptor genes in humans. Proc Natl Acad Sci USA. 104:20421–20426
C16orf82 (1,977 words) [view diff] exact match in snippet view article find links to article
Schizophrenia through a genome-wide association study and autism based on copy number variation analysis. Currently, research has not shown if C16orf82 plays any
Phenol sulfur transferase deficiency (3,419 words) [view diff] exact match in snippet view article find links to article
Snyder NW, Hebbring SJ (November 2017). "Relationship of SULT1A1 copy number variation with estrogen metabolism and human health". The Journal of Steroid
List of sequenced plant genomes (8,022 words) [view diff] case mismatch in snippet view article find links to article
Reduction Uncovers a Large Dispensable Genome and Adaptive Role for Copy Number Variation in Asexually Propagated Solanum tuberosum". The Plant Cell. 28 (2):