Anthony Bleyer to Alleles
This is a "connection" page, showing publications Anthony Bleyer has written about Alleles.
Connection Strength
0.123
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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: 0.055
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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: 0.034
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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: 0.034