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Items: 1 to 20 of 186

1.

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

Zikánová M, Wahezi D, Hay A, Stiburková B, Pitts C 3rd, Mušálková D, Škopová V, Barešová V, Soucková O, Hodanová K, Živná M, Stránecký V, Hartmannová H, Hnízda A, Bleyer AJ, Kmoch S.

Rheumatology (Oxford). 2018 Jul 1;57(7):1180-1185. doi: 10.1093/rheumatology/key041.

PMID:
30423175
2.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

3.

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Tin A, Li Y, Brody JA, Nutile T, Chu AY, Huffman JE, Yang Q, Chen MH, Robinson-Cohen C, Macé A, Liu J, Demirkan A, Sorice R, Sedaghat S, Swen M, Yu B, Ghasemi S, Teumer A, Vollenweider P, Ciullo M, Li M, Uitterlinden AG, Kraaij R, Amin N, van Rooij J, Kutalik Z, Dehghan A, McKnight B, van Duijn CM, Morrison A, Psaty BM, Boerwinkle E, Fox CS, Woodward OM, Köttgen A.

Nat Commun. 2018 Oct 12;9(1):4228. doi: 10.1038/s41467-018-06620-4.

4.

Evaluation of the diet wide contribution to serum urate levels: meta-analysis of population based cohorts.

Major TJ, Topless RK, Dalbeth N, Merriman TR.

BMJ. 2018 Oct 10;363:k3951. doi: 10.1136/bmj.k3951.

5.

Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

Jing J, Ekici AB, Sitter T, Eckardt KU, Schaeffner E, Li Y, Kronenberg F, Köttgen A, Schultheiss UT.

Sci Rep. 2018 Sep 4;8(1):13184. doi: 10.1038/s41598-018-31282-z.

6.

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R.

Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18.

PMID:
29784615
7.

Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand.

Krishnan M, Major TJ, Topless RK, Dewes O, Yu L, Thompson JMD, McCowan L, de Zoysa J, Stamp LK, Dalbeth N, Harré Hindmarsh J, Rapana N, Deka R, Eng WWH, Weeks DE, Minster RL, McGarvey ST, Viali S, Naseri T, Sefuiva Reupena M, Wilcox P, Grattan D, Shepherd PR, Shelling AN, Murphy R, Merriman TR.

Diabetologia. 2018 Jul;61(7):1603-1613. doi: 10.1007/s00125-018-4623-1. Epub 2018 May 2.

PMID:
29721634
8.

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T.

Ren Fail. 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. Review.

9.

The Science of Obesity Management: An Endocrine Society Scientific Statement.

Bray GA, Heisel WE, Afshin A, Jensen MD, Dietz WH, Long M, Kushner RF, Daniels SR, Wadden TA, Tsai AG, Hu FB, Jakicic JM, Ryan DH, Wolfe BM, Inge TH.

Endocr Rev. 2018 Apr 1;39(2):79-132. doi: 10.1210/er.2017-00253.

PMID:
29518206
10.

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Lopes LB, Abreu CC, Souza CF, Guimaraes LER, Silva AA, Aguiar-Alves F, Kidd KO, Kmoch S, Bleyer AJ, Almeida JR.

Braz J Med Biol Res. 2018 Mar 1;51(3):e6560. doi: 10.1590/1414-431X20176560.

11.

Hyperuricemia, Acute and Chronic Kidney Disease, Hypertension, and Cardiovascular Disease: Report of a Scientific Workshop Organized by the National Kidney Foundation.

Johnson RJ, Bakris GL, Borghi C, Chonchol MB, Feldman D, Lanaspa MA, Merriman TR, Moe OW, Mount DB, Sanchez Lozada LG, Stahl E, Weiner DE, Chertow GM.

Am J Kidney Dis. 2018 Jun;71(6):851-865. doi: 10.1053/j.ajkd.2017.12.009. Epub 2018 Feb 27.

PMID:
29496260
12.

A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility.

Higashino T, Matsuo H, Okada Y, Nakashima H, Shimizu S, Sakiyama M, Tadokoro S, Nakayama A, Kawaguchi M, Komatsu M, Hishida A, Nakatochi M, Ooyama H, Imaki J, Shinomiya N.

Hum Cell. 2018 Jan;31(1):10-13. doi: 10.1007/s13577-017-0186-6. Epub 2017 Oct 28.

PMID:
29080939
13.

Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank.

Cadzow M, Merriman TR, Dalbeth N.

Arthritis Res Ther. 2017 Aug 9;19(1):181. doi: 10.1186/s13075-017-1390-1.

14.

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold RL, Clarke HC, Spasic-Boskovic O, Brugger K, Abbs S, Bingham C, Shaw-Smith C.

BMC Nephrol. 2017 Jul 12;18(1):234. doi: 10.1186/s12882-017-0631-5.

15.

Change gout: the need for a new approach.

Punzi L.

Minerva Med. 2017 Aug;108(4):341-349. doi: 10.23736/S0026-4806.17.05188-6. Review.

PMID:
28677361
16.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.

Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA.

Nephrol Dial Transplant. 2017 Dec 1;32(12):1994-1999. doi: 10.1093/ndt/gfx066.

17.

Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.

Nanmoku K, Kurosawa A, Shinzato T, Shimizu T, Kimura T, Yagisawa T.

Intern Med. 2017;56(11):1387-1391. doi: 10.2169/internalmedicine.56.8142. Epub 2017 Jun 1.

18.

Cost-effectiveness Analysis for Genotyping before Allopurinol Treatment to Prevent Severe Cutaneous Adverse Drug Reactions.

Ke CH, Chung WH, Wen YH, Huang YB, Chuang HY, Tain YL, Wang YL, Wu CC, Hsu CN.

J Rheumatol. 2017 Jun;44(6):835-843. doi: 10.3899/jrheum.151476. Epub 2017 Apr 1.

19.

Autosomal Dominant Tubulointerstitial Kidney Disease.

Bleyer AJ, Kidd K, Živná M, Kmoch S.

Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93. doi: 10.1053/j.ackd.2016.11.012. Review.

20.

A Review of the Strain Diversity and Pathogenesis of Chicken Astrovirus.

Smyth VJ.

Viruses. 2017 Feb 10;9(2). pii: E29. doi: 10.3390/v9020029. Review.

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