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Year Number of Results
2004 1
2007 4
2009 2
2010 1
2014 1
2015 2
2016 1
2018 1
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Page 1
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Burris AM, et al. Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26810774 Free PMC article.
Successful use of whole genome amplified DNA from multiple source types for high-density Illumina SNP microarrays.
Dagnall CL, Morton LM, Hicks BD, Li S, Zhou W, Karlins E, Teshome K, Chowdhury S, Lashley KS, Sampson JN, Robison LL, Armstrong GT, Bhatia S, Radloff GA, Davies SM, Tucker MA, Yeager M, Chanock SJ. Dagnall CL, et al. Among authors: lashley ks. BMC Genomics. 2018 Mar 6;19(1):182. doi: 10.1186/s12864-018-4572-6. BMC Genomics. 2018. PMID: 29510662 Free PMC article.
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, Styrkarsdottir U, Gretarsdottir S, Emilsson V, Ghosh S, Baker A, Snorradottir S, Bjarnason H, Ng MC, Hansen T, Bagger Y, Wilensky RL, Reilly MP, Adeyemo A, Chen Y, Zhou J, Gudnason V, Chen G, Huang H, Lashley K, Doumatey A, So WY, Ma RC, Andersen G, Borch-Johnsen K, Jorgensen T, van Vliet-Ostaptchouk JV, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Rotimi C, Gurney M, Chan JC, Pedersen O, Sigurdsson G, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Steinthorsdottir V, et al. Among authors: lashley k. Nat Genet. 2007 Jun;39(6):770-5. doi: 10.1038/ng2043. Epub 2007 Apr 26. Nat Genet. 2007. PMID: 17460697 Free article. Clinical Trial.
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Pathak A, et al. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Genome-wide search for susceptibility genes to type 2 diabetes in West Africans: potential role of C-peptide.
Chen G, Adeyemo A, Zhou J, Chen Y, Huang H, Doumatey A, Lashley K, Agyenim-Boateng K, Eghan BA Jr, Acheampong J, Fasanmade O, Johnson T, Okafor G, Oli J, Amoah A, Rotimi C. Chen G, et al. Among authors: lashley k. Diabetes Res Clin Pract. 2007 Dec;78(3):e1-6. doi: 10.1016/j.diabres.2007.04.010. Epub 2007 Jun 4. Diabetes Res Clin Pract. 2007. PMID: 17548123
11 results