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: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

المصدر: Nature Genetics. 45(3)

مصطلحات موضوعية: Biotechnology, Kidney Disease, Genetics, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cytosine, Female, Genetic Linkage, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Minisatellite Repeats, Mucin-1, Mutation, Polycystic Kidney, Autosomal Dominant, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1bm699hc

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: 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: 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: Vylet'al, P., Kublová, M., Kalbáčová, M., Hodaňová, K., Barešová, V., Stibůrková, B., Sikora, J., Hůlková, H., živný, J., Majewski, J., Simmonds, A., Fryns, J.-P., Venkat-Raman, G., Elleder, M., Kmoch, S.

المصدر: Kidney International ; volume 70, issue 6, page 1155-1169 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1038/sj.ki.5001728
https://api.elsevier.com/content/article/PII:S0085253815520760?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253815520760?httpAccept=text/plain

المؤلفون: 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.

المساهمون: Centre for Toxicogenomics and Human Health (ToxOmics), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

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

وصف الملف: application/pdf

Relation: 2468-0249; PURE: 19961740

الاتاحة: http://hdl.handle.net/10362/104618

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

المؤلفون: Grünfeld, Jean-Pierre, Hwu, Wl, Chien, Yh, Lee, Nc, Chiang, Sc, Dobrovolny, R, Huang, Ac, Yeh, Hy, Chao, Mc, Lin, Sj, Kitagawa, T, Desnick, Rj, Hsu, Lw, Van Keimpema, L, Nevens, Frederik, Vanslembrouck, Ragna, Van Oijen, Gh, Hoffmann, Al, Dekker, Hm, De Man, Ra, Drenth, Jph, Alamovitch, S, Plaisier, E, Favrole, P, Prost, C, Chen, Z, 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, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, Ps, Hart, Tc, Adams, Jn, Pawtowski, A, Clemessy, M, Gasc, Jm, Gubler, Mc, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, Aj, Kmoch, S, Brown, Ej, Schlöndorff, Js, Becker, Dj, Tsukaguchi, H, Uschinski, Al, Higgs, Hn, Henderson, Jm, Pollak, Mr

Relation: Clinical Journal of the American Society of Nephrology vol:5 issue:4 pages:563-7; https://lirias.kuleuven.be/handle/123456789/265803; http://cjasn.asnjournals.org/cgi/pmidlookup?view=long&pmid=20338964; https://lirias.kuleuven.be/bitstream/123456789/265803/3//Gr%C3%BCnfeld+Clin+J+Am+Soc+Nephrol+2010.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/265803
http://cjasn.asnjournals.org/cgi/pmidlookup?view=long&pmid=20338964
https://lirias.kuleuven.be/bitstream/123456789/265803/3//Gr%C3%BCnfeld+Clin+J+Am+Soc+Nephrol+2010.pdf

المؤلفون: 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, JP, Hart, PS, Hart, TC, Adams, JN, Pawtowski, A, Clemessy, M, Gasc, JM, Gubler, MC, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, AJ, Kmoch, S

المصدر: Clinical Journal of the American Society of Nephrology ; volume 5, issue 4, page 563-567 ; ISSN 1555-9041

الاتاحة: http://dx.doi.org/10.2215/01.cjn.0000927108.86094.d2
https://journals.lww.com/01277230-201004000-00008

المؤلفون: Vylet'al, P, Kublová, M, Kalbácová, M, Hodanová, K, Baresová, V, Stibůrková, B, Sikora, J, Hůlková, H, Zivný, J, Majewski, J, Simmonds, A, Fryns, Jean-Pierre, Venkat-Raman, G, Elleder, M, Kmoch, S

مصطلحات موضوعية: Adolescent, Adult, Base Sequence, Basement Membrane, Biopsy, Cells, Cultured, Child, Chromosomes, Human, Pair 1, Pair 16, DNA Mutational Analysis, Female, Genetic Heterogeneity, Gout, Humans, Hyperuricemia, Immunohistochemistry, Kidney, Kidney Tubules, Linkage (Genetics), Male, Mucoproteins, Mutation, Missense, Pedigree, Pituitary Gland, Polycystic Kidney, Autosomal Dominant

Relation: Kidney International vol:70 issue:6 pages:1155-1169; https://lirias.kuleuven.be/handle/123456789/246741

الاتاحة: https://lirias.kuleuven.be/handle/123456789/246741

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

المصدر: Journal of Inherited Metabolic Disease; Aug2008, Vol. 31 Issue 4, p508-517, 10p

المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.

المصدر: Kirby, A., A. Gnirke, D. B. Jaffe, V. Barešová, N. Pochet, B. Blumenstiel, C. Ye, et al. 2014. “Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature genetics 45 (3): 299-303. doi:10.1038/ng.2543. http://dx.doi.org/10.1038/ng.2543.

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901305/pdf/; Nature genetics

URL الوصول: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11879646

المؤلفون: 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

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Centre for Toxicogenomics and Human Health (ToxOmics), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), 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, H, Chen, Ym, Almeida, Jr, Fernandes de Souza, C, Silveira, C, Raposeiro, R, Weller, N, Conlon, P, Murray, S, Benson, Ka, Cavalleri, G, Votruba, M, Vrbacká, A, Amoroso, A, Gianchino, D, Caridi, G, Ghiggeri, Gm, Divers, J, Scolari, F, Devuyst, O, Rampoldi, L, Kmoch, S, Bleyer, A

المصدر: 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)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, autosomal dominant uromodulin kidney disease, Tamm–Horsfall protein, phenotype, uromodulin, genotype, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, lcsh:RC870-923, rs4293393, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, Mendelian randomization, medicine, Allele, education, Allele frequency, education.field_of_study, biology, business.industry, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Minor allele frequency, Ophthalmology, Nephrology, biology.protein, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393