Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

מאת Vylet'al, Petr, Kidd, Kendrah, Ainsworth, Hannah C., Springer, Drahomíra, Vrbacká, Alena, Přistoupilová, Anna, Hughey, Rebecca P., Alper, Seth L., Lennon, Niall, Harrison, Steven, Harden, Maegan, Robins, Victoria, Taylor, Abbigail, Martin, Lauren, Howard, Katrice, Bitar, Ibrahim, Langefeld, Carl D., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.
הוצא לאור ב Am J Nephrol (2021)

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

מאת Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
יצא לאור 2009

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

מאת Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Bleyer, Anthony J., Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne
יצא לאור 2014

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

מאת Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
יצא לאור 2013

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

מאת Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
הוצא לאור ב Kidney Int Rep (2020)