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Page 1
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Althari S, et al. Among authors: hassanali n. Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910913 Free PMC article.
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Thanabalasingham G, Huffman JE, Kattla JJ, Novokmet M, Rudan I, Gloyn AL, Hayward C, Adamczyk B, Reynolds RM, Muzinic A, Hassanali N, Pucic M, Bennett AJ, Essafi A, Polasek O, Mughal SA, Redzic I, Primorac D, Zgaga L, Kolcic I, Hansen T, Gasperikova D, Tjora E, Strachan MW, Nielsen T, Stanik J, Klimes I, Pedersen OB, Njølstad PR, Wild SH, Gyllensten U, Gornik O, Wilson JF, Hastie ND, Campbell H, McCarthy MI, Rudd PM, Owen KR, Lauc G, Wright AF. Thanabalasingham G, et al. Among authors: hassanali n. Diabetes. 2013 Apr;62(4):1329-37. doi: 10.2337/db12-0880. Epub 2012 Dec 28. Diabetes. 2013. PMID: 23274891 Free PMC article.
Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912.
Misra S, Hassanali N, Bennett AJ, Juszczak A, Caswell R, Colclough K, Valabhji J, Ellard S, Oliver NS, Gloyn AL. Misra S, et al. Among authors: hassanali n. Diabetes Care. 2020 Oct;43(10):e155-e156. doi: 10.2337/dci20-0033. Diabetes Care. 2020. PMID: 32958621 Free PMC article. No abstract available.
A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.
Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Morizono T, Takahashi A, Horikoshi M, Nakamura M, Fujita H, Tsunoda T, Kubo M, Watada H, Maegawa H, Okada-Iwabu M, Iwabu M, Shojima N, Ohshige T, Omori S, Iwata M, Hirose H, Kaku K, Ito C, Tanaka Y, Tobe K, Kashiwagi A, Kawamori R, Kasuga M, Kamatani N; Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium; Nakamura Y, Kadowaki T. Imamura M, et al. Hum Mol Genet. 2012 Jul 1;21(13):3042-9. doi: 10.1093/hmg/dds113. Epub 2012 Mar 28. Hum Mol Genet. 2012. PMID: 22456796
Genome-wide association study identifies three novel loci for type 2 diabetes.
Hara K, Fujita H, Johnson TA, Yamauchi T, Yasuda K, Horikoshi M, Peng C, Hu C, Ma RC, Imamura M, Iwata M, Tsunoda T, Morizono T, Shojima N, So WY, Leung TF, Kwan P, Zhang R, Wang J, Yu W, Maegawa H, Hirose H; DIAGRAM consortium; Kaku K, Ito C, Watada H, Tanaka Y, Tobe K, Kashiwagi A, Kawamori R, Jia W, Chan JC, Teo YY, Shyong TE, Kamatani N, Kubo M, Maeda S, Kadowaki T. Hara K, et al. Hum Mol Genet. 2014 Jan 1;23(1):239-46. doi: 10.1093/hmg/ddt399. Epub 2013 Aug 14. Hum Mol Genet. 2014. PMID: 23945395
Seven newly identified loci for autoimmune thyroid disease.
Cooper JD, Simmonds MJ, Walker NM, Burren O, Brand OJ, Guo H, Wallace C, Stevens H, Coleman G; Wellcome Trust Case Control Consortium; Franklyn JA, Todd JA, Gough SC. Cooper JD, et al. Hum Mol Genet. 2012 Dec 1;21(23):5202-8. doi: 10.1093/hmg/dds357. Epub 2012 Aug 24. Hum Mol Genet. 2012. PMID: 22922229 Free PMC article.
Bayesian refinement of association signals for 14 loci in 3 common diseases.
Wellcome Trust Case Control Consortium; Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JM, Auton A, Myers S, Morris A, Pirinen M, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Craddock N, Hurles M, Ouwehand W, Parkes M, Rahman N, Duncanson A, Todd JA, Kwiatkowski DP, Samani NJ, Gough SC, McCarthy MI, Deloukas P, Donnelly P. Wellcome Trust Case Control Consortium, et al. Nat Genet. 2012 Dec;44(12):1294-301. doi: 10.1038/ng.2435. Epub 2012 Oct 28. Nat Genet. 2012. PMID: 23104008 Free PMC article.
75 results