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What is the significance of difference in phenotypic variability across SNP genotypes?
Sun X, Elston R, Morris N, Zhu X. Sun X, et al. Am J Hum Genet. 2013 Aug 8;93(2):390-7. doi: 10.1016/j.ajhg.2013.06.017. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910463 Free PMC article.
We studied the general problem of interpreting and detecting differences in phenotypic variability among the genotypes at a locus, from both a biological and a statistical point of view. The scales on which we measure interval-scale quantitative …
We studied the general problem of interpreting and detecting differences in phenotypic variability among the genotyp
FTO genotype is associated with phenotypic variability of body mass index.
Yang J, Loos RJ, Powell JE, Medland SE, Speliotes EK, Chasman DI, Rose LM, Thorleifsson G, Steinthorsdottir V, Mägi R, Waite L, Smith AV, Yerges-Armstrong LM, Monda KL, Hadley D, Mahajan A, Li G, Kapur K, Vitart V, Huffman JE, Wang SR, Palmer C, Esko T, Fischer K, Zhao JH, Demirkan A, Isaacs A, Feitosa MF, Luan J, Heard-Costa NL, White C, Jackson AU, Preuss M, Ziegler A, Eriksson J, Kutalik Z, Frau F, Nolte IM, Van Vliet-Ostaptchouk JV, Hottenga JJ, Jacobs KB, Verweij N, Goel A, Medina-Gomez C, Estrada K, Bragg-Gresham JL, Sanna S, Sidore C, Tyrer J, Teumer A, Prokopenko I, Mangino M, Lindgren CM, Assimes TL, Shuldiner AR, Hui J, Beilby JP, McArdle WL, Hall P, Haritunians T, Zgaga L, Kolcic I, Polasek O, Zemunik T, Oostra BA, Junttila MJ, Grönberg H, Schreiber S, Peters A, Hicks AA, Stephens J, Foad NS, Laitinen J, Pouta A, Kaakinen M, Willemsen G, Vink JM, Wild SH, Navis G, Asselbergs FW, Homuth G, John U, Iribarren C, Harris T, Launer L, Gudnason V, O'Connell JR, Boerwinkle E, Cadby G, Palmer LJ, James AL, Musk AW, Ingelsson E, Psaty BM, Beckmann JS, Waeber G, Vollenweider P, Hayward C, Wright AF, Rudan I, Groop LC, Metspalu A, Khaw KT, van Duijn CM, Borecki IB, Province MA, War… See abstract for full author list ➔ Yang J, et al. Nature. 2012 Oct 11;490(7419):267-72. doi: 10.1038/nature11401. Epub 2012 Sep 16. Nature. 2012. PMID: 22982992 Free PMC article.
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. ...We report evidence that the single nucleotide polymorphism (SNP) rs7202116 …
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the v …
The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region.
Fernandez-Jimenez N, Garcia-Etxebarria K, Plaza-Izurieta L, Romero-Garmendia I, Jauregi-Miguel A, Legarda M, Ecsedi S, Castellanos-Rubio A, Cahais V, Cuenin C, Degli Esposti D, Irastorza I, Hernandez-Vargas H, Herceg Z, Bilbao JR. Fernandez-Jimenez N, et al. Sci Rep. 2019 Feb 4;9(1):1298. doi: 10.1038/s41598-018-37746-6. Sci Rep. 2019. PMID: 30718669 Free PMC article.
However, the pathogenesis of CD could be driven by other layers of genomic information independent from sequence variation, such as DNA methylation, and it is possible that allele-specific methylation explains part of the SNP associations. ...We found a cell type-sp …
However, the pathogenesis of CD could be driven by other layers of genomic information independent from sequence variation, such as D …
The Influence of Environmental Variation on the Genetic Structure of a Poison Frog Distributed Across Continuous Amazonian Rainforest.
Ferreira AS, Lima AP, Jehle R, Ferrão M, Stow A. Ferreira AS, et al. J Hered. 2020 Sep 30;111(5):457-470. doi: 10.1093/jhered/esaa034. J Hered. 2020. PMID: 32827440
Biogeographic barriers such as rivers have been shown to shape spatial patterns of biodiversity in the Amazon basin, yet relatively little is known about the distribution of genetic variation across continuous rainforest. Here, we characterize the genetic structure …
Biogeographic barriers such as rivers have been shown to shape spatial patterns of biodiversity in the Amazon basin, yet relatively little i …
A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets.
Sanjak JS, Long AD, Thornton KR. Sanjak JS, et al. PLoS Genet. 2017 Jan 19;13(1):e1006573. doi: 10.1371/journal.pgen.1006573. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28103232 Free PMC article.
A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues f …
A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate …
Genome wide copy number variations using Porcine 60K SNP Beadchip in Landlly pigs.
Panda S, Kumar A, Gaur GK, Ahmad SF, Chauhan A, Mehrotra A, Dutt T. Panda S, et al. Anim Biotechnol. 2023 Nov;34(6):1891-1899. doi: 10.1080/10495398.2022.2056047. Epub 2022 Apr 4. Anim Biotechnol. 2023. PMID: 35369845 Review.
In the present study, Porcine 60K SNP genotype data from 69 Landlly pigs were used to explore Copy Number Variations (CNVs) across the autosomes. ...These genes were involved in different biological functions like sensory perception, meat qualit …
In the present study, Porcine 60K SNP genotype data from 69 Landlly pigs were used to explore Copy Number Variations (CNVs) …
Signatures of polygenic adaptation associated with climate across the range of a threatened fish species with high genetic connectivity.
Harrisson KA, Amish SJ, Pavlova A, Narum SR, Telonis-Scott M, Rourke ML, Lyon J, Tonkin Z, Gilligan DM, Ingram BA, Lintermans M, Gan HM, Austin CM, Luikart G, Sunnucks P. Harrisson KA, et al. Mol Ecol. 2017 Nov;26(22):6253-6269. doi: 10.1111/mec.14368. Epub 2017 Nov 8. Mol Ecol. 2017. PMID: 28977721
Adaptive differences across species' ranges can have important implications for population persistence and conservation management decisions. ...The RDA analysis suggested that climate (temperature- and precipitation-related variables) and geography had simil …
Adaptive differences across species' ranges can have important implications for population persistence and conservation …
Genetic variants in the SOX6 gene are associated with bone mineral density in both Caucasian and Chinese populations.
Yang TL, Guo Y, Liu YJ, Shen H, Liu YZ, Lei SF, Li J, Tian Q, Deng HW. Yang TL, et al. Osteoporos Int. 2012 Feb;23(2):781-7. doi: 10.1007/s00198-011-1626-x. Epub 2011 Apr 6. Osteoporos Int. 2012. PMID: 21625884 Free PMC article.
The most significant SNP was rs1347677 located at the intron 3 (P = 3.15 10(-7)). ...CONCLUSION: Our study identified many SNPs in the SOX6 gene associated with hip BMD even across different ethnicities, which further highlighted the importance of the …
The most significant SNP was rs1347677 located at the intron 3 (P = 3.15 10(-7)). ...CONCLUSION: Our study identified many SNP …
Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study.
Carty CL, Spencer KL, Setiawan VW, Fernandez-Rhodes L, Malinowski J, Buyske S, Young A, Jorgensen NW, Cheng I, Carlson CS, Brown-Gentry K, Goodloe R, Park A, Parikh NI, Henderson B, Le Marchand L, Wactawski-Wende J, Fornage M, Matise TC, Hindorff LA, Arnold AM, Haiman CA, Franceschini N, Peters U, Crawford DC. Carty CL, et al. Hum Reprod. 2013 Jun;28(6):1695-706. doi: 10.1093/humrep/det071. Epub 2013 Mar 18. Hum Reprod. 2013. PMID: 23508249 Free PMC article.
LIMITATIONS, REASONS FOR CAUTION: Lack of association for the GWAS SNPs in the non-European American groups may be due to differences in locus LD patterns between these groups and the European-descent populations included in the GWAS discovery studies; and in some cases, l …
LIMITATIONS, REASONS FOR CAUTION: Lack of association for the GWAS SNPs in the non-European American groups may be due to differences
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.
Andrews SV, Sheppard B, Windham GC, Schieve LA, Schendel DE, Croen LA, Chopra P, Alisch RS, Newschaffer CJ, Warren ST, Feinberg AP, Fallin MD, Ladd-Acosta C. Andrews SV, et al. Mol Autism. 2018 Jun 28;9:40. doi: 10.1186/s13229-018-0224-6. eCollection 2018. Mol Autism. 2018. PMID: 29988321 Free PMC article.
The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of …
The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWA …
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