المؤلفون: Živná, Martina

Thesis Advisors: Kmoch, Stanislav, Jirsa, Milan, Sedláček, Zdeněk

الاتاحة: http://www.nusl.cz/ntk/nusl-280562

المؤلفون: Živná, Markéta

Thesis Advisors: Bělohlávek, Otakar

الاتاحة: http://www.nusl.cz/ntk/nusl-289120

المؤلفون: Živná, Martina

Thesis Advisors: Navrátilová, Miroslava, Majerová, Eliška

الاتاحة: http://www.nusl.cz/ntk/nusl-267059

المؤلفون: Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacka A, Piherova L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ

المصدر: BMC Nephrology, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303315; https://eprints.ncl.ac.uk/fulltext.aspx?url=303315/6F955321-14CE-44AD-9B1B-FA990D875AE9.pdf&pub_id=303315

الاتاحة: https://eprints.ncl.ac.uk/303315

المؤلفون: SANTOS, A., Brás, A.C., Curto, A., Ramos, M., Kmochova, T., Hodanova, K., Zivna, M., Bleyer, A., Kmoch, S., Soto, K.

المصدر: Kidney International Reports ; volume 8, issue 3, page S122 ; ISSN 2468-0249

الاتاحة: http://dx.doi.org/10.1016/j.ekir.2023.02.275
https://api.elsevier.com/content/article/PII:S246802492300325X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S246802492300325X?httpAccept=text/plain

المؤلفون: Kidd K., Vylet'al P., Schaeffer C., Olinger E., Zivna M., Hodanova K., Robins V., Johnson E., Taylor A., Martin L., Izzi C., Jorge S. C., Calado J., Torres R. J., Lhotta K., Steubl D., Gale D. P., Gast C., Gombos E., Ainsworth H. C., Chen Y. M., Almeida J. R., de Souza C. F., Silveira C., Raposeiro R., Weller N., Conlon P. J., Murray S. L., Benson K. A., Cavalleri G. L., Votruba M., Vrbacka A., Amoroso A., Gianchino D., Caridi G., Ghiggeri G. M., Divers J., Scolari F., Devuyst O., Rampoldi L., Kmoch S., Bleyer A. J.

المساهمون: Kidd K., Vylet'al P., Schaeffer C., Olinger E., Zivna M., Hodanova K., Robins V., Johnson E., Taylor A., Martin L., Izzi C., Jorge S.C., Calado J., Torres R.J., Lhotta K., Steubl D., Gale D.P., Gast C., Gombos E., Ainsworth H.C., Chen Y.M., Almeida J.R., de Souza C.F., Silveira C., Raposeiro R., Weller N., Conlon P.J., Murray S.L., Benson K.A., Cavalleri G.L., Votruba M., Vrbacka A., Amoroso A., Giachino D., Caridi G., Ghiggeri G.M., Divers J., Scolari F., Devuyst O., Rampoldi L., Kmoch S., Bleyer A.J.

مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin

Relation: info:eu-repo/semantics/altIdentifier/pmid/32954071; info:eu-repo/semantics/altIdentifier/wos/WOS:000568662700012; volume:5; issue:9; firstpage:1472; lastpage:1485; numberofpages:14; journal:KIDNEY INTERNATIONAL REPORTS; http://hdl.handle.net/2318/1757113; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089590074

الاتاحة: http://hdl.handle.net/2318/1757113
https://doi.org/10.1016/j.ekir.2020.06.029

المؤلفون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B. B., Wenzel A., Tory K., Haeffner K., Wolf M. T. F., Bleyer M. E., Sayer J. A., Ong A. C. M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R. M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L. R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A. J.

المساهمون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B.B., Wenzel A., Tory K., Haeffner K., Wolf M.T.F., Bleyer M.E., Sayer J.A., Ong A.C.M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R.M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L.R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A.J.

مصطلحات موضوعية: autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32750457; info:eu-repo/semantics/altIdentifier/wos/WOS:000596506000030; volume:98; issue:6; firstpage:1589; lastpage:1604; numberofpages:16; journal:KIDNEY INTERNATIONAL; https://hdl.handle.net/11585/963228; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383; https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract

الاتاحة: https://hdl.handle.net/11585/963228
https://doi.org/10.1016/j.kint.2020.06.041
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383
https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract

المؤلفون: Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, D G, Gale, D P, Goffin, E, Hodanova, K, Huynh-Do, Uyen, Kistler, Andreas, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, J A, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Devuyst, Olivier

المصدر: Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, D G; Gale, D P; Goffin, E; Hodanova, K; Huynh-Do, Uyen; Kistler, Andreas; Morelle, J; Papagregoriou, G; Pirson, Y; Sandford, R; Sayer, J A; Torra, R; Venzin, C; Venzin, R; Vogt, B; Živná, M; Greka, A; Dahan, K; Rampoldi, L; Devuyst, Olivier; et al (2020). Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney International, 98(3):717-731.

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Nephrology

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/187881/1/1-s2.0-S0085253820305391-main.pdf; info:pmid/32450155; urn:issn:0085-2538

الاتاحة: https://www.zora.uzh.ch/id/eprint/187881/
https://doi.org/10.1016/j.kint.2020.04.038

المؤلفون: Kidd, K, Vylet'al, P, Schaeffer, C, Olinger, E, Živná, M, Hodaňová, K, Robins, V, Johnson, E, Taylor, A, Martin, L, Izzi, C, Jorge, SC, Calado, J, Torres, RJ, Lhotta, K, Steubl, D, Gale, DP, Gast, C, Gombos, E, Ainsworth, HC, Chen, YM, Almeida, JR, de Souza, CF, Silveira, C, Raposeiro, R, Weller, N, Conlon, PJ, Murray, SL, Benson, KA, Cavalleri, GL, Votruba, M, Vrbacká, A, Amoroso, A, Gianchino, D, Caridi, G, Ghiggeri, GM, Divers, J, Scolari, F, Devuyst, O, Rampoldi, L, Kmoch, S, Bleyer, AJ

المصدر: Kidney International Reports , 5 (9) pp. 1472-1485. (2020)

مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10109172/8/Gale_Genetic%20and%20Clinical%20Predictors%20of%20Age%20of%20ESKD%20in%20Individuals%20With%20Autosomal%20Dominant%20Tubulointerstitial%20Kidney%20Disease%20Due%20to%20UMOD%20Mutations_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10109172/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10109172/8/Gale_Genetic%20and%20Clinical%20Predictors%20of%20Age%20of%20ESKD%20in%20Individuals%20With%20Autosomal%20Dominant%20Tubulointerstitial%20Kidney%20Disease%20Due%20to%20UMOD%20Mutations_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10109172/

المؤلفون: Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodanova K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Zivna M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ, Devuyst O

المصدر: Kidney International, September 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/268811; https://eprints.ncl.ac.uk/fulltext.aspx?url=268811/A5AC9E9C-3BFB-4508-B181-551CD0ED9AC7.pdf&pub_id=268811

الاتاحة: https://eprints.ncl.ac.uk/268811

المؤلفون: Little, Mark, Cormican, S., Connaughton, D.M., Kennedy, C., Murray, S., Živná, M., Kmoch, S., Fennelly, N.K., O'Kelly, P., Benson, K.A., Conlon, E.T., Cavalleri, G., Foley, C., Doyle, B., Dorman, A., Lavin, P., Kidd, K., Bleyer, A.J., Conlon, P.J.

مصطلحات موضوعية: ADTKD, Genetic, MUC-1, UMOD, Chronic kidney disease, HNF-1B, Urinary smear, Frameshift, Immunology, Inflammation & Infection

وصف الملف: application/pdf

Relation: Renal failure; Cormican, S., Connaughton, D.M., Kennedy, C., Murray, S., Živná, M., Kmoch, S., Fennelly, N.K., O'Kelly, P., Benson, K.A., Conlon, E.T., Cavalleri, G., Foley, C., Doyle, B. & Conlon, P.J., Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland, Renal failure, 2019; Y; http://hdl.handle.net/2262/91398; http://people.tcd.ie/mlittle; 211054; https://doi.org/10.1111/ctr.13783; orcid:0000-0001-6003-397X

الاتاحة: http://hdl.handle.net/2262/91398
http://people.tcd.ie/mlittle
https://doi.org/10.1111/ctr.13783
https://onlinelibrary.wiley.com/doi/abs/10.1111/ctr.13783

المؤلفون: Cormican, S., Connaughton, D. M., Kennedy, C., Murray, S., Živná, 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.

المصدر: Renal Failure ; volume 41, issue 1, page 832-841 ; ISSN 0886-022X 1525-6049

الاتاحة: http://dx.doi.org/10.1080/0886022x.2019.1655452
https://www.tandfonline.com/doi/pdf/10.1080/0886022X.2019.1655452

المؤلفون: Gast, C, Marinaki, A, Arenas-Hernandez, M, Campbell, S, Seaby, EG, Pengelly, RJ, Gale, DP, Connor, TM, Bunyan, DJ, Hodaňová, K, Živná, M, Kmoch, S, Ennis, S, Venkat-Raman, G

المصدر: BMC Nephrology , 19 , Article 301. (2018)

مصطلحات موضوعية: Autosomal dominant tubulointerstitial kidney disease, Genetic kidney disease, Prevalence, UMOD

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10061124/1/s12882-018-1107-y.pdf; https://discovery.ucl.ac.uk/id/eprint/10061124/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10061124/1/s12882-018-1107-y.pdf
https://discovery.ucl.ac.uk/id/eprint/10061124/

المؤلفون: Vylet’al P. (10932213), Kidd K. (8106437), Ainsworth H.C. (10932216), Springer D. (10932219), Vrbacká A. (10932222), Přistoupilová A. (10932225), Hughey R.P. (10932228), Alper S.L. (10932231), Lennon N. (10932234), Harrison S. (3237420), Harden M. (10932237), Robins V. (10932240), Taylor A. (10932243), Martin L. (10932246), Howard K. (10932249), Bitar I. (10932252), Langefeld C.D. (3356462), Barešová V. (10932255), Hartmannová H. (10932258), Hodaňová K. (10932261), Zima T. (10932264), Živná M. (10932267), Kmoch S. (10932270), Bleyer A.J. (8106449)

مصطلحات موضوعية: Medicine, CA15-3, Mucin-1, Autosomal dominant tubulointerstitial kidney disease, ADTKD-MUC1, rs4072037

Relation: https://figshare.com/articles/dataset/Supplementary_Material_for_Plasma_Mucin-1_CA15-3_Levels_in_Autosomal_Dominant_Tubulointerstitial_Kidney_Disease_due_to_b_i_MUC1_i_b_Mutations/14743080

الاتاحة: https://doi.org/10.6084/m9.figshare.14743080.v1

المؤلفون: Vylet'al, P., Hůlková, H., Živná, M., Berná, L., Novák, P., Elleder, M., Kmoch, S.

المصدر: Journal of Inherited Metabolic Disease ; volume 31, issue 4, page 508-517 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-008-0900-3
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-008-0900-3

المؤلفون: Bolar, N.A., Golzio, C., Zivna, M., Hayot, G., Hemelrijk, C. van, Schepers, D., Vandeweyer, G., Hoischen, A., Huyghe, J.R., Raes, A., Matthys, E., Sys, E., Azou, M., Gubler, M.C., Praet, M., Van Camp, G., McFadden, K., Pediaditakis, I., Pristoupilova, A., Hodanova, K., Vyletal, P., Hartmannova, H., Stranecky, V., Hulkova, H., Baresova, V., Jedlickova, I., Sovova, J., Hnizda, A., Kidd, K., Bleyer, A.J., Spong, R.S., Vande Walle, J., Mortier, G., Brunner, H.G., Van Laer, L., Kmoch, S., Katsanis, N., Loeys, B.L.

المصدر: American Journal of Human Genetics, 99, 1, pp. 174-87

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf; http://hdl.handle.net/2066/167296

الاتاحة: http://hdl.handle.net/2066/167296
https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf
https://doi.org/10.1016/j.ajhg.2016.05.028

المؤلفون: Hartmannová, H., Piherová, L., Tauchmannová, K. (Kateřina), Kidd, K., Acott, P. D., Crocker, J. F. S., Oussedik, Y., Mallet, M., Hodaňová, K., Stránecký, V., Přistoupilová, A., Barešová, V., Jedličková, I., Živná, M., Sovová, J., Hůlková, H., Robins, V., Vrbacký, M. (Marek), Pecina, P. (Petr), Kaplanová, V. (Vilma), Houštěk, J. (Josef), Mráček, T. (Tomáš), Thibeault, Y., Bleyer, A. J., Kmoch, S.

مصطلحات موضوعية: Acadian variant of Fanconi syndrome, mitochondrial complex I deficiency, NDUFAF6, C8ORF38, non-coding mutation, alternative splicing variant, protein isoforms

Relation: info:eu-repo/semantics/altIdentifier/pmid/27466185; urn:pissn: 0964-6906; urn:eissn: 1460-2083; http://hdl.handle.net/11104/0269081

الاتاحة: https://doi.org/10.1093/hmg/ddw245
http://hdl.handle.net/11104/0269081

المؤلفون: Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P. J., Vogel, K., Rahbari-Oskoui, F. F., Tuazon, J., Constantinou-Deltas, Constantinos D., Somers, D., Megarbane, A., Kimmel, P. L., Sperati, C. J., Orr-Urtreger, A., Ben-Shachar, S., Waugh, D. A., Mcginn, S., Bleyer Jr., A. J., Hodaňová, K., Vyletal, P., Živná, M., Hart, T. C., Hart, P. S.

المساهمون: Constantinou-Deltas, Constantinos D. 0000-0001-5549-9169

المصدر: Clinical Journal of the American Society of Nephrology ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-84896813347&doi=10.2215%2fCJN.06380613&partnerID=40&md5=9f2fc8eed946039880ebb34f267bd55d ; Clin.J.Am.Soc.Nephrol.

مصطلحات موضوعية: Age Factors, article, Young Adult, human, Aged, Humans, adult, female, major clinical study, Disease Progression, Retrospective Studies, Time Factors, male, Genetic Predisposition to Disease, Risk Factors, Risk Assessment, middle aged, urinalysis, gene mutation, Mutation, mutational analysis, Adolescent, genetic analysis, Registries, DNA Mutational Analysis, mucin 1, glomerulus filtration rate, Phenotype, Gene-Environment Interaction, 80 and over

Relation: http://gnosis.library.ucy.ac.cy/handle/7/52951

الاتاحة: http://gnosis.library.ucy.ac.cy/handle/7/52951
https://doi.org/10.2215/CJN.06380613

المؤلفون: Grunfeld, JP, Hwu, WL, Chien, YH, Lee, N, Chiang, S, Dobrovolny, R, Huang, A, Yeh, HN, Chao, M, Lin, SB, Kitagawa, T, Desnick, RJ, Hsu, L (Lily), van Keimpema, L, Nevens, F, Vanslembrouck, R, van Oijen, G, Hoffmann, AL (Aswin), Dekker, H, de Man, Rob, Drenth, J, Alamovitch, S, Plaisier, E, Favrole, P, Prost, C, Chen, Zhigang, van Agrmael, T, Marro, B, Ronco, P, Zivna, M, Hulkova, H, Matignon, M, Hodanova, K, Vylet'al, P, Kalbacova, M, Baresova, V, Sikora, J, Blazkova, H, Zivny, J, Ivanek, R, Stranecky, V, Sovova, J, Claes, K, Lerut, E, Fryns, J-P, Hart, PG (P.), Hart, T, Adams, J, Pawtowski, A, Clemessy, M, Gasc, JM, Gubler, M, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, A, Kmoch, S, Brown, E, Schlondorff, J, Becker, Dj, Tsukaguchi, H, Uschinki, A, Higgs, H, Henderson, J, Pollak, M

المصدر: Grunfeld , JP , Hwu , WL , Chien , YH , Lee , N , Chiang , S , Dobrovolny , R , Huang , A , Yeh , HN , Chao , M , Lin , SB , Kitagawa , T , Desnick , RJ , Hsu , L , van Keimpema , L , Nevens , F , Vanslembrouck , R , van Oijen , G , Hoffmann , AL , Dekker , H , de Man , R , Drenth , J , Alamovitch , S , Plaisier , E , Favrole , P , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM042002A, name=EMC MM-04-20-02-A

الاتاحة: https://pure.eur.nl/en/publications/7b21f8d6-af5a-4aae-a213-61b1127f1fe4

المؤلفون: Grunfeld, J.P., Hwu, W., Chien, Y., Lee, N., Chiang, S., Dobrovolny, R., Huang, A., Yeh, H., Chao, M., Lin, S., Kitagawa, T., Desnick, R., Hsu, L., Keimpema, L. van, Nevens, F., Vanslembrouck, R., Oijen, G. Van, Hoffmann, A., Dekker, H., Man, R. de, Drenth, J.P.H., Alamovitch, S., Plaisier, E., Favrole, P., Prost, C., Chen, Z., Agrmael, T. Van, Marro, B., Ronco, P., Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., Sovova, J., Claes, K., Lerut, E., Fryns, J.P., Hart, P. t, Hart, T., Adams, J., Pawtowski, A., Clemessy, M., Gasc, J., Gubler, M., Antignac, C., Elleder, M., Kapp, K., Grimbert, P., Bleyer, A., Kmoch, S., Brown, E., Schlondorff, J., Becker, D.J., Tsukaguchi, H., Uschinski, A., Higgs, H., Henderson, J., Pollak, M.

المصدر: Clinical Journal of the American Society of Nephrology, 5, 4, pp. 563-7

مصطلحات موضوعية: IGMD 2: Molecular gastro-enterology and hepatology

Relation: http://hdl.handle.net/2066/89212

الاتاحة: http://hdl.handle.net/2066/89212