Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Victoria Robins"'
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
Autor:
Petr, Vylet'al, Kendrah, Kidd, Hannah C, Ainsworth, Drahomíra, Springer, Alena, Vrbacká, Anna, Přistoupilová, Rebecca P, Hughey, Seth L, Alper, Niall, Lennon, Steven, Harrison, Maegan, Harden, Victoria, Robins, Abbigail, Taylor, Lauren, Martin, Katrice, Howard, Ibrahim, Bitar, Carl D, Langefeld, Veronika, Barešová, Hana, Hartmannová, Kateřina, Hodaňová, Tomáš, Zima, Martina, Živná, Stanislav, Kmoch, Anthony J, Bleyer
Publikováno v:
Am J Nephrol
INTRODUCTION: Patients with ADTKD-MUC1 have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-MUC1 patients, who have only 1 secretory-competent wild-type MUC1 all
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
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