Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Miroslav, Votruba"'
Autor:
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
BackgroundClassic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711
https://hdl.handle.net/20.500.14178/1711
Autor:
Victoria Robins, Maegan Harden, Anna Greka, Miroslav Votruba, Alese Hunt, Petr Vyleťal, Sri Vidya, Hana Hartmannová, Shahriar Moossavi, Georgeanna Tsoumas, Brendan Blumenstiel, Kateřina Hodaňová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Annie Santi, Marwan Abbas, Lauren Martin, Stanislav Kmoch, Elizabeth Swain, Abbigail Taylor, Ebun Akinbola
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. Methods Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697823fee4c2353cbc6c8cc1f0705990
https://doi.org/10.1038/s41436-019-0617-8
https://doi.org/10.1038/s41436-019-0617-8
Autor:
Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari
Publikováno v:
Kidney international. 98(6)
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59a
https://pubmed.ncbi.nlm.nih.gov/33276865
https://pubmed.ncbi.nlm.nih.gov/33276865
Autor:
Karl Lhotta, Peter J. Conlon, Daniel P. Gale, Victoria Robins, Miroslav Votruba, Kendrah Kidd, Céline Schaeffer, Dominik Steubl, Ying Maggie Chen, Catarina Silveira, Gianluca Caridi, Lauren Martin, Claudia Izzi, Antonio Amoroso, Eric Olinger, Jorge Reis Almeida, Stanislav Kmoch, Rita Raposeiro, Daniela Gianchino, Alena Vrbacká, Hannah C. Ainsworth, Martina Živná, Gian Marco Ghiggeri, Kateřina Hodaňová, Rosa J. Torres, Christine Gast, Joaquim Calado, Abbigail Taylor, Olivier Devuyst, Katherine A. Benson, Susan L. Murray, Cintia Fernandes de Souza, Eva Gombos, Emily Johnson, Francesco Scolari, Gianpiero L. Cavalleri, Petr Vylet'al, Jasmin Divers, Anthony J. Bleyer, Luca Rampoldi, Sofia C Jorge, Nelson Weller
Publikováno v:
Kidney International Reports, Vol. 5, no. 9, p. 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393
https://hdl.handle.net/2078.1/239393
Autor:
Bowline I, Kim N, Martina Živná, Johnson E, Stanislav Kmoch, Hana Hartmannová, Robins, Taylor Kb, Kendrah Kidd, Petr Vyleťal, Anthony J. Bleyer, Frankova, Kateřina Hodaňová, Pinder Aj, Martin L, Taylor A, Miroslav Votruba, Baek Jj
Publikováno v:
Clinical nephrology. 92(6)
AIMS The reaction to diagnosis and quality of life (QOL) in autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD and MUC mutations from the time of diagnosis until treatment for end-stage kidney disease (ESKD) has not been charact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f69bfaf037e45c12f7cd273fc5d562
https://pubmed.ncbi.nlm.nih.gov/31587753
https://pubmed.ncbi.nlm.nih.gov/31587753
Autor:
Martina, Živná, Kendrah, Kidd, Anna, Přistoupilová, Veronika, Barešová, Mathew, DeFelice, Brendan, Blumenstiel, Maegan, Harden, Peter, Conlon, Peter, Lavin, Dervla M, Connaughton, Hana, Hartmannová, Kateřina, Hodaňová, Viktor, Stránecký, Alena, Vrbacká, Petr, Vyleťal, Jan, Živný, Miroslav, Votruba, Jana, Sovová, Helena, Hůlková, Victoria, Robins, Rebecca, Perry, Andrea, Wenzel, Bodo B, Beck, Tomáš, Seeman, Ondřej, Viklický, Sylvie, Rajnochová-Bloudíčková, Gregory, Papagregoriou, Constantinos C, Deltas, Seth L, Alper, Anna, Greka, Anthony J, Bleyer, Stanislav, Kmoch
Publikováno v:
J Am Soc Nephrol
Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-After technique refinement, the sensitivity and specificity for MUC1fs immunostainin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e1e9fe02af7390bed48f1a9a951f80e
https://pubmed.ncbi.nlm.nih.gov/32234832
https://pubmed.ncbi.nlm.nih.gov/32234832