Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

por Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Publicado 2020

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

por Buglioni, Alessia, Hasadsri, Linda, Nasr, Samih H., Hogan, Marie C., Moyer, Ann M., Siddique, Khurrum, Kidd, Kendrah, Kmoch, Stanislav, Hodaňová, Kateřina, Bleyer, Anthony J., Alexander, Mariam P.
Publicado 2021

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

por Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek
Publicado 2018

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

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

por Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2016

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