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Items: 1 to 50 of 154

1.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M.

Hum Mol Genet. 2019 Oct 10. pii: ddz237. doi: 10.1093/hmg/ddz237. [Epub ahead of print]

PMID:
31600779
2.

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
.

Bleyer AJ, Kidd K, Johnson E, Robins V, Martin L, Taylor A, Pinder AJ, Bowline I, Frankova V, Živná M, Taylor KB, Kim N, Baek JJ, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, Kmoch S.

Clin Nephrol. 2019 Oct 7. doi: 10.5414/CN109842. [Epub ahead of print]

PMID:
31587753
3.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Cormican S, Connaughton DM, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly NK, O'Kelly P, Benson KA, Conlon ET, Cavalleri G, Foley C, Doyle B, Dorman A, Little MA, Lavin P, Kidd K, Bleyer AJ, Conlon PJ.

Ren Fail. 2019 Nov;41(1):832-841. doi: 10.1080/0886022X.2019.1655452.

4.

Autosomal dominant tubulointerstitial kidney disease.

Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ.

Nat Rev Dis Primers. 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. Review.

PMID:
31488840
5.

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A.

Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002.

PMID:
31348885
6.

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.

Bleyer AJ, Kidd K, Robins V, Martin L, Taylor A, Santi A, Tsoumas G, Hunt A, Swain E, Abbas M, Akinbola E, Vidya S, Moossavi S, Bleyer AJ Jr, Živná M, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, Harden M, Blumenstiel B, Greka A, Kmoch S.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0617-8. [Epub ahead of print]

PMID:
31337885
7.

Impaired Regeneration Potential in Urinary Stem Cells Diagnosed from the Patients with Diabetic Nephropathy.

Xiong G, Tang W, Zhang D, He D, Wei G, Atala A, Liang XJ, Bleyer AJ, Bleyer ME, Yu J, Aloi JA, Ma JX, Furdui CM, Zhang Y.

Theranostics. 2019 May 31;9(14):4221-4232. doi: 10.7150/thno.34050. eCollection 2019.

8.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Bleyer AJ, Kmoch S, Greka A.

N Engl J Med. 2019 May 23;380(21):2080. doi: 10.1056/NEJMc1903250. No abstract available.

PMID:
31116938
9.

Dialysis initiation, modality choice, access, and prescription: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Chan CT, Blankestijn PJ, Dember LM, Gallieni M, Harris DCH, Lok CE, Mehrotra R, Stevens PE, Wang AY, Cheung M, Wheeler DC, Winkelmayer WC, Pollock CA; Conference Participants.

Kidney Int. 2019 Jul;96(1):37-47. doi: 10.1016/j.kint.2019.01.017. Epub 2019 Apr 13.

10.

A randomized trial of vonapanitase (PATENCY-1) to promote radiocephalic fistula patency and use for hemodialysis.

Bleyer AJ, Scavo VA, Wilson SE, Browne BJ, Ferris BL, Ozaki CK, Lee T, Peden EK, Dixon BS, Mishler R, O'Connor TP, Kidd K, Burke SK; PATENCY-1 Investigators.

J Vasc Surg. 2019 Feb;69(2):507-515. doi: 10.1016/j.jvs.2018.04.068. Erratum in: J Vasc Surg. 2019 Apr;69(4):1329.

11.

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.

12.

Rare copy number variation in extremely impulsively violent males.

Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S.

Genes Brain Behav. 2019 Jul;18(6):e12536. doi: 10.1111/gbb.12536. Epub 2018 Dec 3.

PMID:
30411505
13.

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
.

Cochran B, Kovačíková T, Hodaňová K, Živná M, Hnízda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ.

Clin Nephrol. 2018 Oct;90(4):296-301. doi: 10.5414/CN109460. Review.

PMID:
30106368
14.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

15.

Office Visit: Kidney Transplantation of a Dreamer.

Bleyer AJ.

Nephron. 2018;139(4):283-285. doi: 10.1159/000488955. Epub 2018 Apr 19.

16.

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.

17.

3D computed tomography angiography as a novel post-processing approach in diagnosis of pediatric malignant bone tumors.

Wu J, Wang C, Li M, Luo C, Liu X, Xie L, He L, Gong M, Hu Z, Bleyer AJ, Zhang Y.

J Xray Sci Technol. 2018;26(1):147-154. doi: 10.3233/XST-17346.

PMID:
29480237
18.

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.

Yu SM, Bleyer AJ, Anis K, Herlitz L, Živná M, Hůlková H, Markowitz GS, Jim B.

Am J Kidney Dis. 2018 Apr;71(4):495-500. doi: 10.1053/j.ajkd.2017.08.024. Epub 2017 Dec 6.

PMID:
29217307
19.

Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.

Kim Y, Park SJ, Manson SR, Molina CA, Kidd K, Thiessen-Philbrook H, Perry RJ, Liapis H, Kmoch S, Parikh CR, Bleyer AJ, Chen YM.

JCI Insight. 2017 Dec 7;2(23). pii: 92896. doi: 10.1172/jci.insight.92896.

20.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants.

Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Erratum in: Kidney Int. 2017 Dec;92(6):1558.

21.

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.

22.

Sickle Cell Trait and Interpretation of Hemoglobin A1c Levels.

Bleyer AJ, Aloi JA.

JAMA. 2017 Feb 7;317(5):481-482. doi: 10.1001/jama.2016.20994. No abstract available.

PMID:
28170462
23.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S.

Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27.

PMID:
27466185
24.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL.

Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028.

25.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related.

Bleyer AJ, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Aug 15 [updated 2016 Jun 30].

26.

Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related.

Bleyer AJ, Hart PS, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jan 12 [updated 2016 Jun 30].

27.

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

Blumenstiel B, DeFelice M, Birsoy O, Bleyer AJ, Kmoch S, Carter TA, Gnirke A, Kidd K, Rehm HL, Ronco L, Lander ES, Gabriel S, Lennon NJ.

J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5.

28.

Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related.

Kmoch S, Živná M, Bleyer AJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Apr 5 [updated 2015 Dec 29].

29.

Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

Bleyer AJ, Kmoch S.

Clin J Am Soc Nephrol. 2016 Jan 7;11(1):6-8. doi: 10.2215/CJN.12201115. Epub 2015 Dec 18. No abstract available.

30.

Is heart rate a risk marker in patients with chronic heart failure and concomitant atrial fibrillation? Results from the MAGGIC meta-analysis.

Simpson J, Castagno D, Doughty RN, Poppe KK, Earle N, Squire I, Richards M, Andersson B, Ezekowitz JA, Komajda M, Petrie MC, McAlister FA, Gamble GD, Whalley GA, McMurray JJ; Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC).

Eur J Heart Fail. 2015 Nov;17(11):1182-91. doi: 10.1002/ejhf.346. Epub 2015 Sep 11.

31.

Pharmacokinetics and pharmacodynamics of pegloticase in patients with end-stage renal failure receiving hemodialysis.

Bleyer AJ, Wright D, Alcorn H.

Clin Nephrol. 2015 May;83(5):286-92. doi: 10.5414/CN108481.

PMID:
25816806
32.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
33.

Differing prognostic value of pulse pressure in patients with heart failure with reduced or preserved ejection fraction: results from the MAGGIC individual patient meta-analysis.

Jackson CE, Castagno D, Maggioni AP, Køber L, Squire IB, Swedberg K, Andersson B, Richards AM, Bayes-Genis A, Tribouilloy C, Dobson J, Ariti CA, Poppe KK, Earle N, Whalley G, Pocock SJ, Doughty RN, McMurray JJ; Meta-Analysis Global Group in Chronic Heart Failure MAGGIC.

Eur Heart J. 2015 May 7;36(18):1106-14. doi: 10.1093/eurheartj/ehu490. Epub 2015 Jan 23. Review.

34.

Autosomal dominant tubulointerstitial kidney disease: of names and genes.

Bleyer AJ, Kmoch S.

Kidney Int. 2014 Sep;86(3):459-61. doi: 10.1038/ki.2014.125.

35.

Observational modeling of strict vs conventional blood pressure control in patients with chronic kidney disease.

Kovesdy CP, Lu JL, Molnar MZ, Ma JZ, Canada RB, Streja E, Kalantar-Zadeh K, Bleyer AJ.

JAMA Intern Med. 2014 Sep;174(9):1442-9. doi: 10.1001/jamainternmed.2014.3279. Erratum in: JAMA Intern Med. 2014 Oct;174(10):1709.

36.

Risk of catheter-related bloodstream infection in elderly patients on hemodialysis.

Murea M, James KM, Russell GB, Byrum GV 3rd, Yates JE, Tuttle NS, Bleyer AJ, Burkart JM, Freedman BI.

Clin J Am Soc Nephrol. 2014 Apr;9(4):764-70. doi: 10.2215/CJN.07710713. Epub 2014 Mar 20.

37.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

38.

The obesity paradox in heart failure patients with preserved versus reduced ejection fraction: a meta-analysis of individual patient data.

Padwal R, McAlister FA, McMurray JJ, Cowie MR, Rich M, Pocock S, Swedberg K, Maggioni A, Gamble G, Ariti C, Earle N, Whalley G, Poppe KK, Doughty RN, Bayes-Genis A; Meta-analysis Global Group in Chronic Heart Failure (MAGGIC).

Int J Obes (Lond). 2014 Aug;38(8):1110-4. doi: 10.1038/ijo.2013.203. Epub 2013 Oct 31.

PMID:
24173404
39.

Blood pressure and mortality in U.S. veterans with chronic kidney disease: a cohort study.

Kovesdy CP, Bleyer AJ, Molnar MZ, Ma JZ, Sim JJ, Cushman WC, Quarles LD, Kalantar-Zadeh K.

Ann Intern Med. 2013 Aug 20;159(4):233-42. doi: 10.7326/0003-4819-159-4-201308200-00004.

40.

Known and missing left ventricular ejection fraction and survival in patients with heart failure: a MAGGIC meta-analysis report.

Poppe KK, Squire IB, Whalley GA, Køber L, McAlister FA, McMurray JJ, Pocock S, Earle NJ, Berry C, Doughty RN; Meta-Analysis Global Group in Chronic Heart Failure.

Eur J Heart Fail. 2013 Nov;15(11):1220-7. doi: 10.1093/eurjhf/hft101. Epub 2013 Jun 26.

41.

Diabetic nephropathy in a sibling and albuminuria predict early GFR decline: a prospective cohort study.

Gunzler D, Bleyer AJ, Thomas RL, O'Brien A, Russell GB, Sattar A, Iyengar SK, Thomas C, Sedor JR, Schelling JR.

BMC Nephrol. 2013 Jun 17;14:124. doi: 10.1186/1471-2369-14-124.

42.

Erratum: Enigmatic pruritus in a kidney transplant patient.

Yates JE, Bleyer AJ, Yosipovitch G, Sangueza OP, Murea M.

Clin Kidney J. 2013 Jun;6(3):363. doi: 10.1093/ckj/sft053.

43.

Clinical implications of the relationship between low calcium concentration dialysate and sudden death.

Bleyer AJ.

Clin J Am Soc Nephrol. 2013 May;8(5):706-7. doi: 10.2215/CJN.03130313. Epub 2013 Apr 18. No abstract available.

44.

American Society of Nephrology Quiz and Questionnaire 2012: electrolytes.

Palmer BF, Glassock RJ, Bleyer AJ.

Clin J Am Soc Nephrol. 2013 Jun;8(6):1048-53. doi: 10.2215/CJN.00460113. Epub 2013 Apr 11.

45.

American Society of Nephrology quiz and questionnaire 2012: renal replacement therapy.

Mehrotra R, Glassock RJ, Bleyer AJ.

Clin J Am Soc Nephrol. 2013 Sep;8(9):1632-6. doi: 10.2215/CJN.00450113. Epub 2013 Apr 4.

46.

Enigmatic pruritus in a kidney transplant patient.

Yates JE, Bleyer AJ, Yosipovitch G, Sangueza OP, Murea M.

Clin Kidney J. 2013 Apr;6(2):194-8. doi: 10.1093/ckj/sft009. Erratum in: Clin Kidney J. 2013 Jun;6(3):363.

47.

American Society of Nephrology Quiz and Questionnaire 2012: Transplantation.

Brennan DC, Glassock RJ, Bleyer AJ.

Clin J Am Soc Nephrol. 2013 Jul;8(7):1267-72. doi: 10.2215/CJN.00430113. Epub 2013 Mar 28.

48.

American Society of Nephrology Quiz and Questionnaire 2012: glomerulonephritis.

Fervenza FC, Glassock RJ, Bleyer AJ.

Clin J Am Soc Nephrol. 2013 Aug;8(8):1460-5. doi: 10.2215/CJN.00440113. Epub 2013 Mar 28.

49.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

50.

Glycated albumin, not hemoglobin A1c, predicts cardiovascular hospitalization and length of stay in diabetic patients on dialysis.

Murea M, Moran T, Russell GB, Shihabi ZK, Byers JR, Andries L, Bleyer AJ, Freedman BI.

Am J Nephrol. 2012;36(5):488-96. doi: 10.1159/000343920. Epub 2012 Nov 7.

PMID:
23147746

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