المؤلفون: Schaeffer, C, Izzi, C, Vettori, A, Pasqualetto, E, Cittaro, D, Lazarevic, D, Caridi, G, Gnutti, B, Mazza, C, Jovine, L, Scolari, F, Rampoldi, L

المصدر: Scientific reports. 9(1):11601

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141610080Test

المؤلفون: Kiryluk, K, Sanchez-Rodriguez, E, Zhou, XJ, Zanoni, F, Liu, LL, Mladkova, N, Khan, A, Marasa, M, Zhang, JY, Balderes, O, Sanna-Cherchi, S, Bomback, AS, Canetta, PA, Appel, GB, Radhakrishnan, J, Trimarchi, H, Sprangers, B, Cattran, DC, Reich, H, Pei, YR, Ravani, P, Galesic, K, Maixnerova, D, Tesar, V, Stengel, B, Metzger, M, Canaud, G, Maillard, N, Berthoux, F, Berthelot, L, Pillebout, E, Monteiro, R, Nelson, R, Wyatt, RJ, Smoyer, W, Mahan, J, Samhar, A, Hidalgo, G, Quiroga, A, Weng, PTC, Sreedharan, R, Selewski, D, Davis, K, Kallash, M, Vasylyeva, TL, Rheault, M, Chishti, A, Ranch, D, Wenderfer, SE, Samsonov, D, Claes, DJ, Akchurin, O, Goumenos, D, Stangou, M, Nagy, J, Kovacs, T, Fiaccadori, E, Amoroso, A, Barlassina, C, Cusi, D, Del Vecchio, L, Battaglia, GG, Bodria, M, Boer, E, Bono, L, Boscutti, G, Caridi, G, Lugani, F, Ghiggeri, G, Coppo, R, Peruzzi, L, Esposito, V, Esposito, C, Feriozzi, S, Polci, R, Frasca, G, Galliani, M, Garozzo, M, Mitrotti, A, Gesualdo, L, Granata, S, Zaza, G, Londrino, F, Magistroni, R, Pisani, I, Magnano, A, Marcantoni, C, Messa, P, Mignani, R, Pani, A, Ponticelli, C, Roccatello, D, Salvadori, M, Salvi, E, Santoro, D, Gembillo, G, Savoldi, S, Spotti, D, Zamboli, P, Izzi, C, Alberici, F, Delbarba, E, Florczak, M, Krata, N, Mucha, K, Paczek, L, Niemczyk, S, Moszczuk, B, Panczyk-Tomaszewska, M, Mizerska-Wasiak, M, Perkowska-Ptasinska, A, Baczkowska, T, Durlik, M, Pawlaczyk, K, Sikora, P, Zaniew, M, Kaminska, D, Krajewska, M, Kuzmiuk-Glembin, I, Heleniak, Z, Bullo-Piontecka, B, Liberek, T, Debska-Slizien, A, Hryszko, T, Materna-Kiryluk, A, Miklaszewska, M, Szczepanska, M, Dyga, K, Machura, E, Siniewicz-Luzenczyk, K, Pawlak-Bratkowska, M, Tkaczyk, M, Runowski, D, Kwella, N, Drozdz, D, Habura, I, Kronenberg, F, Prikhodina, L, van Heel, D, Fontaine, B, Cotsapas, C, Wijmenga, C, Franke, A, Annese, V, Gregersen, PK, Parameswaran, S, Weirauch, M, Kottyan, L, Harley, JB, Suzuki, H, Narita, I, Goto, S, Lee, HJ, Kim, DK, Kim, YS, Park, JH, Cho, BL, Choi, M, Van Wijk, A, Huerta, A, Ars, E, Ballarin, J, Lundberg, S, Vogt, B, Mani, LY, Caliskan, Y, Barratt, J, Abeygunaratne, T, Kalra, PA, Gale, DP, Panzer, U, Rauen, T, Floege, J, Schlosser, P, Ekici, AB, Eckardt, KU, Chen, N, Xie, JY, Lifton, RP, Loos, RJF, Kenny, EE, Ionita-Laza, I, Kottgen, A, Julian, BA, Novak, J, Scolari, F, Zhang, H, Gharavi, AG

المصدر: Nature genetics. 55(7):1091

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:153261196Test

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

العلاقة: 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/2318/1757113Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089590074

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

المؤلفون: Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, Scolari F, Zhao MH, Gharavi AG, Kleta R, Chen N, Kiryluk K.

المساهمون: Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Lin, L, Hu, X, Yu, X, Xu, J, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, Rj, Bodria, M, Zanoni, F, Zhang, Jy, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, Pa, Bomback, A, Appel, Gb, Sanna-Cherchi, S, Sampson, Mg, Mariani, Lh, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, Ly, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, Su, Sever, M, Zhang, D, Santoro, D, Bonomini, M, Londrino, F, Gesualdo, L, Reiterova, J, Tesar, V, Izzi, C, Savoldi, S, Spotti, D, Marcantoni, C, Messa, P, Galliani, M, Roccatello, D, Granata, S, Zaza, G, Lugani, F, Ghiggeri, G, Pisani, I, Allegri, L, Sprangers, B, Park, Jh, Cho, B, Kim, Y, Kim, Dk, Suzuki, H, Amoroso, A, Cattran, Dc, Fervenza, Fc, Pani, A, Hamilton, P, Harris, S, Gupta, S, Cheshire, C, Dufek, S, Issler, N, Pepper, Rj, Connolly, J, Powis, S, Bockenhauer, D, Stanescu, Hc, Ashman, N, Loos, Rjf, Kenny, Ee, Wuttke, M, Eckardt, Ku, Köttgen, A, Hofstra, Jm, Coenen, Mjh, Kiemeney, La

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32231244; info:eu-repo/semantics/altIdentifier/wos/WOS:000563559600001; volume:11; firstpage:1; lastpage:18; numberofpages:18; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11564/720644Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082558400; https://www.nature.com/articles/s41467-020-15383-wTest

الإتاحة: https://doi.org/10.1038/s41467-020-15383-wTest
http://hdl.handle.net/11564/720644Test
https://www.nature.com/articles/s41467-020-15383-wTest

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

العلاقة: 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/11585/963228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test; https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract

الإتاحة: https://doi.org/10.1016/j.kint.2020.06.041Test
https://hdl.handle.net/11585/963228Test
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test
https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract

المؤلفون: GEMBILLO, G., Scolari, F., Izzi, C., Siligato, R., Minutoli, F., Mazziotti, S., Santoro, D.

المصدر: Kidney International Reports ; volume 6, issue 4, page S183-S184 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2021.03.448Test
https://api.elsevier.com/content/article/PII:S2468024921005945?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024921005945?httpAccept=text/plainTest

المؤلفون: Ahram D. F., Lim T. Y., Ke J., Jin G., Verbitsky M., Bodria M., Kil B. H., Chatterjee D., Piva S. E., Marasa M., Zhang J. Y., Cocchi E., Caridi G., Gucev Z., Lozanovski V. J., Pisani I., Izzi C., Savoldi G., Gnutti B., Capone V. P., Morello W., Guarino S., Esposito P., Lambert S., Radhakrishnan J., Appel G. B., Uy N. S., Rao M. K., Canetta P. A., Bomback A. S., Nestor J. G., Hays T., Cohen D. J., Finale C., Wijk J. A. E. v., La Scola C., Baraldi O., Tondolo F., Di Renzo D., Jamry-Dziurla A., Pezzutto A., Manca V., Mitrotti A., Santoro D., Conti G., Martino M., Giordano M., Gesualdo L., Zibar L., Masnata G., Bonomini M., Alberti D., La Manna G., Caliskan Y., Ranghino A., Marzuillo P., Kiryluk K., Krzemień G., Miklaszewska M., Lin F., Montini G., Scolari F., Fiaccadori E., Arapović A., Saraga M., McKiernan J., Alam S., Zaniew M., Szczepańska M., Szmigielska A., Sikora P., Drożdż D., Mizerska-Wasiak M., Mane S., Lifton R. P., Tasic V., Latos-Bielenska A., Gharavi A. G., Ghiggeri G. M., Materna-Kiryluk A., Westland R., Sanna-Cherchi S.

المساهمون: Ahram, D. F., Lim, T. Y., Ke, J., Jin, G., Verbitsky, M., Bodria, M., Kil, B. H., Chatterjee, D., Piva, S. E., Marasa, M., Zhang, J. Y., Cocchi, E., Caridi, G., Gucev, Z., Lozanovski, V. J., Pisani, I., Izzi, C., Savoldi, G., Gnutti, B., Capone, V. P., Morello, W., Guarino, S., Esposito, P., Lambert, S., Radhakrishnan, J., Appel, G. B., Uy, N. S., Rao, M. K., Canetta, P. A., Bomback, A. S., Nestor, J. G., Hays, T., Cohen, D. J., Finale, C., Wijk, J. A. E. v., La Scola, C., Baraldi, O., Tondolo, F., Di Renzo, D., Jamry-Dziurla, A., Pezzutto, A., Manca, V., Mitrotti, A., Santoro, D., Conti, G., Martino, M., Giordano, M., Gesualdo, L., Zibar, L., Masnata, G., Bonomini, M., Alberti, D., La Manna, G., Caliskan, Y., Ranghino, A., Marzuillo, P., Kiryluk, K., Krzemień, G., Miklaszewska, M., Lin, F., Montini, G., Scolari, F., Fiaccadori, E., Arapović, A., Saraga, M., Mckiernan, J., Alam, S., Zaniew, M., Szczepańska, M., Szmigielska, A., Sikora, P., Drożdż, D., Mizerska-Wasiak, M., Mane, S., Lifton, R. P., Tasic, V., Latos-Bielenska, A., Gharavi, A. G., Ghiggeri, G. M., Materna-Kiryluk, A., Westland, R., Sanna-Cherchi, S.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36995132; info:eu-repo/semantics/altIdentifier/wos/WOS:001030807200017; volume:34; firstpage:1105; lastpage:1119; numberofpages:15; journal:JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; https://hdl.handle.net/11567/1126035Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160965727

الإتاحة: https://doi.org/10.1681/ASN.0000000000000132Test
https://hdl.handle.net/11567/1126035Test

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

العلاقة: 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.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10109172Test/

الإتاحة: 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.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10109172Test/

المؤلفون: Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Lin, L, Hu, X, Yu, X, Xu, J, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, RJ, Bodria, M, Zanoni, F, Zhang, JY, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, PA, Bomback, AS, Appel, GB, Sanna-Cherchi, S, Sampson, MG, Mariani, LH, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, L-Y, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, SU, Sever, MS, Zhang, D, Santoro, D, Bonomini, M, Londrino, F, Gesualdo, L, Reiterova, J, Tesar, V, Izzi, C, Savoldi, S, Spotti, D, Marcantoni, C, Messa, P, Galliani, M, Roccatello, D, Granata, S, Zaza, G, Lugani, F, Ghiggeri, G, Pisani, I, Allegri, L, Sprangers, B, Park, J-H, Cho, B, Kim, YS, Kim, DK, Suzuki, H, Amoroso, A, Cattran, DC, Fervenza, FC, Pani, A, Hamilton, P, Harris, S, Gupta, S, Cheshire, C, Dufek, S, Issler, N, Pepper, RJ, Connolly, J, Powis, S, Bockenhauer, D, Stanescu, HC, Ashman, N, Loos, RJF, Kenny, EE, Wuttke, M, Eckardt, K-U, Köttgen, A, Hofstra, JM, Coenen, MJH, Kiemeney, LA, Akilesh, S, Kretzler, M, Beck, LH, Stengel, B, Debiec, H, Ronco, P, Wetzels, JFM, Zoledziewska, M, Cucca, F, Ionita-Laza, I, Lee, H, Hoxha, E, Stahl, RAK, Brenchley, P, Scolari, F, Zhao, M-H, Gharavi, AG, Kleta, R, Chen, N, Kiryluk, K

المصدر: Nature Communications , 11 (1) , Article 1600. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094590/1/s41467-020-15383-w.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094590Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10094590/1/s41467-020-15383-w.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10094590Test/

المؤلفون: Furlan, F, Rovelli, A, Rigoldi, M, Filocamo, M, Tappino, B, Friday, D, Gasperini, S, Mariani, S, Izzi, C, Bondioni, MP, Gellera, C, Venerando, A, Villa, N, Del Carmen Rodriguez Perez, M, Pavan, F, Biondi, A, Parini, R

المساهمون: Furlan, F, Rovelli, A, Rigoldi, M, Filocamo, M, Tappino, B, Friday, D, Gasperini, S, Mariani, S, Izzi, C, Bondioni, M, Gellera, C, Venerando, A, Villa, N, Del Carmen Rodriguez Perez, M, Pavan, F, Biondi, A, Parini, R

مصطلحات موضوعية: Beta-glucuronidase, GUSB gene, Haematopoietic cell transplantation, HCT, LSD, MPS VII, Mucopolysaccharidosi, NIHF, Non-immune hydrops fetali, Female, Human, Infant, Newborn, Male, Mucopolysaccharidosis VII, Pregnancy, Prenatal Diagnosi, Hematopoietic Stem Cell Transplantation, Pediatrics, Perinatology and Child Health

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30442200; info:eu-repo/semantics/altIdentifier/wos/WOS:000450493400018; volume:44; issue:Suppl 2; firstpage:128; numberofpages:7; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/10281/226170Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056628099

الإتاحة: https://doi.org/10.1186/s13052-018-0566-xTest
http://hdl.handle.net/10281/226170Test