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

searching for Copy number variation 102 found (177 total)

alternate case: copy number variation

Charles Lee (scientist) (1,796 words) [view diff] exact match in snippet view article

Carter NP, Lee C*, Stone AC*. 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
Stephen W. Scherer (5,041 words) [view diff] exact match in snippet view article find links to article
in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.” Scherer was born in
8p23.1 duplication syndrome (779 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
Structural variation in the human genome (3,756 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
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
FCGR2C (586 words) [view diff] exact match in snippet view article find links to 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
C4A (1,679 words) [view diff] exact match in snippet view article find links to article
G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):
Complement component 4B (1,049 words) [view diff] exact match in snippet view article find links to article
G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):
Short interspersed nuclear element (5,251 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
Chilodonella uncinata (1,407 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):
Flow cytometry (6,938 words) [view diff] exact match in snippet view article find links to article
specific chromosomes or chromosomal abnormalities. DNA copy number variation: DNA copy number variation can be measured using flow cytometry techniques such
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"
Wellcome Sanger Institute (3,938 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 (2,419 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
PRR23C (804 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):
Molecular cytogenetics (1,707 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
Evdokia Anagnostou (897 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
Amylase (2,535 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
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
Α-Amylase (2,102 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
Hemoglobinopathy (2,220 words) [view diff] exact match in snippet view article find links to article
state within the same tetrameric haemoglobin unit.[citation needed] Copy number variation (e.g., deletion, duplication, insertion) is also a common genetic
AK-47 (cannabis) (959 words) [view diff] exact match in snippet view article
(2015-10-08). "Single molecule sequencing of THCA synthase reveals copy number variation in modern drug-type Cannabis sativa L": 028654. doi:10.1101/028654
CYLD cutaneous syndrome (4,092 words) [view diff] exact match in snippet view article find links to article
an active protein but are detected as "normal" CYLD mRNA; and 3) copy number variation mutations that result in the development of CYLD mRNA levels that
DEFB104A (597 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
Klaus-Peter Lesch (383 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
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
DEFB105A (506 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
Zinc transporter ZIP12 (2,876 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
Bio-Rad Laboratories (1,280 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. In January 2013, Bio-Rad purchased AbD Serotec, a division of MorphoSys
Helmy Eltoukhy (2,587 words) [view diff] exact match in snippet view article find links to article
genetic variants, (2015). Methods to detect rare mutations and copy number variation, (2016). Methods for multi-resolution analysis of cell-free nucleic
Phosphatidylserine synthase 1 (366 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. Bibcode:2016NatSR...619088S. doi:10
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
Olfactory receptor (4,348 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
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
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
SPANXB1 (568 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
DLGAP2 (939 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. Bibcode:2010Natur
Center for Applied Genomics (1,248 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
Psoralen (2,607 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
SRGAP2 (780 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
DEFB106A (619 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
Myomegalin (989 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
DPP10 (802 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
Neuregulin 3 (2,559 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
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):
TNNI3K (633 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):
DEFA4 (905 words) [view diff] exact match in snippet view article find links to article
Segat L, Arraes LC, Garzino-Demo A, Crovella S (March 2009). "Copy number variation of defensin genes and HIV infection in Brazilian children". Journal
ARHGAP11B (688 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): 641–646. Bibcode:2010Sci
John Marioni (438 words) [view diff] exact match in snippet view article find links to article
of Chicago University of Cambridge Thesis Statistical methods for arrayCGH and copy number variation experiments (2007) Doctoral advisor Simon Tavaré
SETBP1 (1,419 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 (874 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. Bibcode:2010Natur
List of biological databases (2,874 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
Transfer RNA (7,633 words) [view diff] exact match in snippet view article find links to article
Esteban; Rackham, Oliver; Filipovska, Aleksandra (18 April 2023). "Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced
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"
Single-cell analysis (6,374 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
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
Y chromosome (8,054 words) [view diff] exact match in snippet view article find links to article
PMID 29454353. Veerappa AM, Padakannaya P, Ramachandra NB (August 2013). "Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a
SH2B3 (1,921 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
Jan Schouten (geneticist) (803 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 (13,730 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
Xp11.2 duplication (3,270 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
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:
GNLY (2,318 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
Louise Wain (743 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" (PDF). The Lancet. 374 (9686): 340–350
Organisms at high altitude (5,491 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 (6,676 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 (4,560 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
Elective genetic and genomic testing (5,081 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
Chromosome conformation capture (5,355 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
Burnside–Butler syndrome (640 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".
Andreas Buja (597 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,
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
Brett Abrahams (1,138 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
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
Somatic evolution in cancer (9,909 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
Dual inheritance theory (8,696 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
Andrew Singleton (1,019 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
John Constantino (1,070 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
Intelectin (2,264 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
Manuel Corpas (scientist) (1,481 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’
BAG3 (3,610 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
Devil facial tumour disease (5,984 words) [view diff] exact match in snippet view article find links to article
HV, Marzec J, Cheng Y, Jones M, Belov K (July 2010). "MHC gene copy number variation in Tasmanian devils: implications for the spread of a contagious
STIL (2,251 words) [view diff] exact match in snippet view article find links to article
identified to have STIL disorders, which have fueled carcinogenesis. Copy number variation, mutation, and DNA methylation all had an impact on STIL's dysregulated
Tenascin X (2,970 words) [view diff] exact match in snippet view article find links to article
Füst G, et al. (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):
Isodicentric 15 (2,323 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
Humanized mouse (3,634 words) [view diff] exact match in snippet view article find links to article
(2012). "Animal models of psychiatric disorders that reflect human copy number variation". Neural Plasticity. 2012: 589524. doi:10.1155/2012/589524. PMC 3414062
Quantitative genetics (20,929 words) [view diff] exact match in snippet view article find links to article
Plassais, J; Juan, D; Ostrander, EA; Marques-Bonet, T (May 2021). "Copy number variation underlies complex phenotypes in domestic dog breeds and other canids"
DNA database (7,128 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 (1,830 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
Ultra-conserved element (4,384 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 that
C16orf82 (1,994 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
High-altitude adaptation in humans (5,759 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
Evolution of olfaction (5,762 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". Proceedings of the National
16p11.2 deletion syndrome (1,064 words) [view diff] exact match in snippet view article find links to article
2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome". European Journal of Human Genetics. 28 (9): 1196–1204
Henry Heng (1,665 words) [view diff] exact match in snippet view article find links to article
extensively used for gene cloning, physical mapping, DNA replication, copy number variation (CNV), and genome structure studies. Heng, Henry (2019). Genome
Facioscapulohumeral muscular dystrophy (16,014 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"
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (20,525 words) [view diff] exact match in snippet view article find links to article
G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):
Phenol sulfur transferase deficiency (2,695 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
Haptoglobin-related protein (1,610 words) [view diff] exact match in snippet view article find links to article
(2014). "Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis". Human Genetics. 133 (1):
List of sequenced plant genomes (10,497 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):
List of Korean Nobel laureates and nominees (1,953 words) [view diff] exact match in snippet view article find links to article
Wigler "for their contributions to the discovery of large-scale copy number variation and its association with specific diseases." According to the Nobel