Autosomal dominant tubulointerstitial kidney disease: A review

por Živná, Martina, Kidd, Kendrah O., Barešová, Veronika, Hůlková, Helena, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2022

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

por Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G., Pengelly, Reuben J., Gale, Daniel P., Connor, Thomas M., Bunyan, David J., Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G.
Publicado 2018

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

por Sicking, Mark, Živná, Martina, Bhadra, Pratiti, Barešová, Veronika, Tirincsi, Andrea, Hadzibeganovic, Drazena, Hodaňová, Kateřina, Vyleťal, Petr, Sovová, Jana, Jedličková, Ivana, Jung, Martin, Bell, Thomas, Helms, Volkhard, Bleyer, Anthony J, Kmoch, Stanislav, Cavalié, Adolfo, Lang, Sven
Publicado 2022

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

por Jorge, Sofia, Kidd, Kendrah, Vylet’al, Petr, Nogueira, Estela, Martin, Lauren, Howard, Katrice, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina
Publicado 2023

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases

por Bleyer, Anthony J., Kidd, Kendrah, Robins, Victoria, Martin, Lauren, Taylor, Abbigail, Santi, Annie, Tsoumas, Georgeanna, Hunt, Alese, Swain, Elizabeth, Abbas, Marwan, Akinbola, Ebun, Vidya, Sri, Moossavi, Shahriar, Bleyer, Anthony J., Živná, Martina, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Harden, Maegan, Blumenstiel, Brendan, Greka, Anna, Kmoch, Stanislav
Publicado 2019

The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

por Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., Conlon, Peter J.
Publicado 2022

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

por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado 2016

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

por 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.
Publicado 2020