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M

Martina Živná

General University Hospital Prague
H指数:19
被引数:1,528

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Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis

单分子实时测序用于MUC1可变数目串联重复序列变异以改善常染色体显性肾小管间质性肾脏疾病的诊断

Journal of the American Society of Nephrology
IF9.4
2026-04-010
PRE
Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav
Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease

与常染色体显性遗传性肾小管间质性肾病CKD分期相关的血浆代谢物

Kidney360
IF3
2026-02-010
PRE
Musalkova, Dita; Radina, Martin; Kidd, Kendrah; Hartmannova, Hana; Treslova, Helena; Hodanova, Katerina; Vyletal, Petr; Vrbacka, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Kulhava, Lucie Rudl; Hricko, Jiri; Cajka, Tomas; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
KIDNEY INTERNATIONAL REPORTS
IF5.7
2024-07-012
OAAI
Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
KIDNEY INTERNATIONAL
IF12.6
2024-04-013
OA
Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
KIDNEY INTERNATIONAL
IF12.6
2022-02-0114
PRE
Sikora, Jakub; Kmochova, Tereza; Musalkova, Dita; Pohludka, Michal; Prikryl, Petr; Hartmannova, Hana; Hodanova, Katerina; Treslova, Helena; Noskova, Lenka; Mrazova, Lenka; Stranecky, Viktor; Lunova, Mariia; Jirsa, Milan; Honsova, Eva; Dasari, Surendra; McPhail, Ellen D.; Leung, Nelson; Zivna, Martina; Bleyer, Anthony J.; Rychlik, Ivan; Rysava, Romana; Kmoch, Stanislav
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

由于MUC1突变导致的常染色体显性肾小管间质肾病中的血浆粘蛋白-1 (CA15-3) 水平

AMERICAN JOURNAL OF NEPHROLOGY
IF3.2
2021-06-0711
OAAI
Vylet'al, Petr; Kidd, Kendrah; Ainsworth, Hannah C.; Springer, Drahomira; Vrbacka, Alena; Pristoupilova, 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.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
KIDNEY INTERNATIONAL
IF12.6
2020-12-0123
OAAI
Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J.
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
KIDNEY INTERNATIONAL REPORTS
IF5.7
2020-09-0128
OAAI
Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Celine; Olinger, Eric; Zivna, Martina; Hodanova, Katerina; 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; Souza, Cintia Fernandes de; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J.; Murray, Susan L.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Votruba, Miroslav; Vrbacka, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
KIDNEY INTERNATIONAL
IF12.6
2020-09-0168
OA
Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Ines; Belge, Hendrica; Schaeffer, Celine; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G.; Gale, Daniel P.; Goffin, Eric; Hodanova, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A.; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivna, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J., Sr.; Devuyst, Olivier
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland

爱尔兰中的常染色体显性肾小管间质肾病 (ADTKD)

RENAL FAILURE
IF3
2019-09-1119
OAAI
Cormican, S.; Connaughton, D. M.; Kennedy, C.; Murray, S.; Zivna, M.; Kmoch, S.; Fennelly, N. K.; O'Kelly, P.; Benson, K. A.; Conlon, E. T.; Cavalleri, G.; Foley, C.; Doyle, B.; Dorman, A.; Little, M. A.; Lavin, P.; Kidd, K.; Bleyer, A. J.; Conlon, P. J.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF9.4
2018-07-0236
OAAI
Zivna, Martina; Kidd, Kendrah; Pristoupilova, Anna; Baresova, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Vrbacka, Alena; Vylet'al, Petr; Zivny, Jan; Votruba, Miroslav; Sovova, Jana; Hulkova, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomas; Viklicky, Ondrej; Rajnochova-Bloudickova, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Fanconi综合征的Acadian变体是由线粒体呼吸链复合物I缺乏引起的，这是由于复合物I组装因子NDUFAF6中的非编码突变所致。

HUMAN MOLECULAR GENETICS
IF3.2
2016-07-2745
OAAI
Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-07-01125
OAAI
Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; 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; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; 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.
Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
2014-03-0161
OAAI
Bleyer, Anthony J.; Kmoch, Stanislav; Antignac, Corinne; Robins, Vicki; Kidd, Kendrah; Kelsoe, John R.; Hladik, Gerald; Klemmer, Philip; Knohl, Stephen J.; Scheinman, Steven J.; Nam Vo; 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., Jr.; Hodanova, Katerina; Vylet'al, Petr; Zivna, Martina; Hart, Thomas C.; Hart, P. Suzanne

研究方向

暂未获取到该数据
A
Anthony J. Bleyer
H 指数:57论文数:607被引数:1.3万
S
Stanislav Kmoch
H 指数:48论文数:284被引数:7,494
K
Kendrah Kidd
H 指数:19论文数:84被引数:1,265
K
Kateřina Hodaňová
H 指数:24论文数:69被引数:2,017
P
Petr Vyleťal
H 指数:16论文数:41被引数:1,409
V
Veronika Barešová
H 指数:21论文数:63被引数:2,403
H
Hana Hartmannová
H 指数:22论文数:68被引数:2,374
J
Jana Sovová
H 指数:14论文数:39被引数:1,290
V
Viktor Stránecký
H 指数:30论文数:187被引数:3,447
H
Helena Hůlková
H 指数:28论文数:80被引数:3,187