Anthony Bleyer to Mutation
This is a "connection" page, showing publications Anthony Bleyer has written about Mutation.
Connection Strength
1.863
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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, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014 Mar; 9(3):527-35.
Score: 0.402
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Schäffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. Pediatr Nephrol. 2010 Jul; 25(7):1355-60.
Score: 0.305
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Bleyer AJ, Woodard AS, Shihabi Z, Sandhu J, Zhu H, Satko SG, Weller N, Deterding E, McBride D, Gorry MC, Xu L, Ganier D, Hart TC. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int. 2003 Jul; 64(1):36-42.
Score: 0.193
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Yu SM, Bleyer AJ, Anis K, Herlitz L, Živná M, Hulková H, Markowitz GS, Jim B. Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. Am J Kidney Dis. 2018 04; 71(4):495-500.
Score: 0.131
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Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal Dominant Tubulointerstitial Kidney Disease. Adv Chronic Kidney Dis. 2017 03; 24(2):86-93.
Score: 0.124
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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, Pristoupilová A, Hodanová K, Vyletal P, Hartmannová H, Stránecký V, Hulková H, Barešová V, Jedlicková 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. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet. 2016 Jul 07; 99(1):174-87.
Score: 0.119
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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. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. J Mol Diagn. 2016 07; 18(4):566-71.
Score: 0.117
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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, Hulková 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. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar; 45(3):299-303.
Score: 0.094
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Bleyer AJ, Hart TC. Genetic factors associated with gout and hyperuricemia. Adv Chronic Kidney Dis. 2006 Apr; 13(2):124-30.
Score: 0.058
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Choi SW, Ryu OH, Choi SJ, Song IS, Bleyer AJ, Hart TC. Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate. J Am Soc Nephrol. 2005 Oct; 16(10):3006-14.
Score: 0.056
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Bleyer AJ, Hart TC. Polycystic kidney disease. N Engl J Med. 2004 Jun 17; 350(25):2622; author reply 2622.
Score: 0.052
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Živná M, Kidd K, Pristoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodanová K, Stránecký V, Vrbacká A, Vyletal P, Živný J, Votruba M, Sovová J, Hulková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudícková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018 09; 29(9):2418-2431.
Score: 0.034
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Zikánová M, Wahezi D, Hay A, Stiburková B, Pitts C, Mušálková D, Škopová V, Barešová V, Soucková O, Hodanová K, Živná M, Stránecký V, Hartmannová H, Hnízda A, Bleyer AJ, Kmoch S. Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. Rheumatology (Oxford). 2018 07 01; 57(7):1180-1185.
Score: 0.034
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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. Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease. JCI Insight. 2017 12 07; 2(23).
Score: 0.033
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Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanová K, Stránecký V, Pristoupilová A, Barešová V, Jedlicková I, Živná M, Sovová J, Hulková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštek J, Mrácek T, Thibeault Y, Bleyer AJ, Kmoch S. 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. Hum Mol Genet. 2016 09 15; 25(18):4062-4079.
Score: 0.030
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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. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015 Oct; 88(4):676-83.
Score: 0.027
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Vyletal P, Bleyer AJ, Kmoch S. Uromodulin biology and pathophysiology--an update. Kidney Blood Press Res. 2010; 33(6):456-75.
Score: 0.020
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Zivná M, Hulková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug; 85(2):204-13.
Score: 0.018
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Codina J, Liu J, Bleyer AJ, Penn RB, DuBose TD. Phosphorylation of S955 at the protein kinase A consensus promotes maturation of the alpha subunit of the colonic H+,K+ -ATPase. J Am Soc Nephrol. 2006 Jul; 17(7):1833-40.
Score: 0.015