المؤلفون: Zagorec, N., Calamel, A., Ars, E., Ong, A., Halbritter, J., Audrezet, M.-P., Pillay, V.-G., Meur, Y.L., Sayer, J., Genkyst Study Group, Gall, E.C.-L.

العلاقة: Zagorec, N., Calamel, A., Ars, E. et al. (8 more authors) (2024) #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants. In: Nephrology Dialysis Transplantation. 61st ERA Congress, 23-26 May 2024, Stockholm, Sweden. Oxford University Press (OUP) .

الإتاحة: https://eprints.whiterose.ac.uk/214360Test/

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: 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: Savige, J., Storey, H., Watson, E., Hertz, J.M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D.G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., Lungu, A., Rothe, H.M., Hoefele, J., Zacchia, M., Martic, T.N., Gupta, A., van Eerde, A., Gear, S., Landini, S., Palazzo, V., Al-Rabadi, L., Claes, K., Corveleyn, A., Van Hoof, E., van Geel, M., Williams, M., Ashton, E., Belge, H., Ars, E., Bierzynska, A., Gangemi, C., Lipska-Zietkiewicz, B.S.

المصدر: Savige , J , Storey , H , Watson , E , Hertz , J M , Deltas , C , Renieri , A , Mari , F , Hilbert , P , Plevova , P , Byers , P , Cerkauskaite , A , Gregory , M , Cerkauskiene , R , Ljubanovic , D G , Becherucci , F , Errichiello , C , Massella , L , Aiello , V , Lennon , R , Hopkinson , L , Koziell , A , Lungu , A , Rothe , H M , Hoefele , J , ....

مصطلحات موضوعية: AMINO-ACID-SEQUENCE, IV COLLAGEN, BASEMENT-MEMBRANE, OSTEOGENESIS IMPERFECTA, GLYCINE SUBSTITUTIONS, MEDICAL GENETICS, AMERICAN-COLLEGE, MUTATIONS, CHAIN, DISEASE

الإتاحة: https://doi.org/10.1038/s41431-021-00858-1Test
https://cris.maastrichtuniversity.nl/en/publications/e8da689a-c7ba-42ae-aab7-e1cdcc34e1baTest

المؤلفون: Savige, J, Storey, H, Watson, E, Hertz, JM, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, DG, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, HM, Hoefele, J, Zacchia, M, Martic, TN, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Lipska-Zietkiewicz, BS

العلاقة: pii: 10.1038/s41431-021-00858-1; Savige, J., Storey, H., Watson, E., Hertz, J. M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R. ,. Lipska-Zietkiewicz, B. S. (2021). Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. EUROPEAN JOURNAL OF HUMAN GENETICS, 29 (8), pp.1186-1197. https://doi.org/10.1038/s41431-021-00858-1Test.; http://hdl.handle.net/11343/280459Test

الإتاحة: https://doi.org/10.1038/s41431-021-00858-1Test
http://hdl.handle.net/11343/280459Test

المؤلفون: Savige J., Ariani F., Mari F., Bruttini M., Renieri A., Gross O., Deltas C., Flinter F., Ding J., Gale D. P., Nagel M., Yau M., Shagam L., Torra R., Ars E., Hoefele J., Garosi G., Storey H.

المساهمون: Savige, J., Ariani, F., Mari, F., Bruttini, M., Renieri, A., Gross, O., Deltas, C., Flinter, F., Ding, J., Gale, D. P., Nagel, M., Yau, M., Shagam, L., Torra, R., Ars, E., Hoefele, J., Garosi, G., Storey, H.

مصطلحات موضوعية: Alport syndrome, Collagen IV gene, Next generation sequencing, Pathogenic variants

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29987460; info:eu-repo/semantics/altIdentifier/wos/WOS:000468850500004; volume:34; issue:7; firstpage:1175; lastpage:1189; numberofpages:15; journal:PEDIATRIC NEPHROLOGY; http://hdl.handle.net/11365/1078702Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049617992; link.springer.de/link/service/journals/00467/index.htm

الإتاحة: https://doi.org/10.1007/s00467-018-3985-4Test
http://hdl.handle.net/11365/1078702Test

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: Savige, J, Ariani, F, Mari, F, Bruttini, M, Renieri, A, Gross, O, Deltas, C, Flinter, F, Ding, J, Gale, DP, Nagel, M, Yau, M, Shagam, L, Torra, R, Ars, E, Hoefele, J, Garosi, G, Storey, H

المصدر: Pediatric Nephrology , 34 (7) pp. 1175-1189. (2019)

مصطلحات موضوعية: Alport syndrome, Collagen IV genes, Next generation sequencing, Pathogenic variants

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10052872/1/Gale_Final%20Alport%20genetics%20guide-%20Revision%202.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10052872Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10052872/1/Gale_Final%20Alport%20genetics%20guide-%20Revision%202.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10052872Test/

المؤلفون: Gross, O, Kashtan, C, Rheault, M, Flinter, F, Savige, J, Miner, J, Torra, R, Ars, E, Deltas, C, Savva, I, Perin, L, Renieri, A, Ariani, F, Mari, F, Baigent, C, Judge, P, Knebelman, B, Heidet, L, Lagas, S, Blatt, D, Ding, J, Zhang, Y, Gale, D, Prunotto, M, Xue, Y, Schachter, A, Morton, L, Blem, J, Huang, M, Liu, S, Vallee, S, Renault, D, Schifter, J, Skelding, J, Gear, S, Friede, T, Turner, A, Lennon, R

العلاقة: https://ora.ox.ac.uk/objects/uuid:af322bab-3d51-43b6-b806-8e9fc4edef26Test; https://doi.org/10.1093/ndt/gfw095Test

الإتاحة: https://doi.org/10.1093/ndt/gfw095Test
https://ora.ox.ac.uk/objects/uuid:af322bab-3d51-43b6-b806-8e9fc4edef26Test

المؤلفون: DEBIEC, H., DOSSIER, C., LETOUZE, E., GILLIES, C. E., VIVARELLI, M., PUTLER, R. K., ARS, E., JACQZ-AIGRAIN, E., ELIE, V., COLUCCI, M., DEBETTE, Stephanie, AMOUYEL, Philippe, ELALAOUI, S. C., SEFIANI, A., DUBOIS, V., SIMON, T., KRETZLER, M., BALLARIN, J., EMMA, F., SAMPSON, M. G., DESCHENES, G., RONCO, P.

مصطلحات موضوعية: VINTAGE, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/11590Test

الإتاحة: https://doi.org/20.500.12278/11590Test
https://doi.org/10.1681/asn.2017111185Test
https://oskar-bordeaux.fr/handle/20.500.12278/11590Test
https://hdl.handle.net/20.500.12278/11590Test