Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome von 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.

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Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci von STRÁNECKÝ, V., NEŘOLDOVÁ, M., HODAŇOVÁ, K., HARTMANNOVÁ, H., PIHEROVÁ, L., ZEMÁNKOVÁ, P., PŘISTOUPILOVÁ, A., VRABLÍK, M., ADÁMKOVÁ, M., KMOCH, S., JIRSA, M.

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Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients von Lhota, F., Zemankova, P., Kleiblova, P., Soukupova, J., Vocka, M., Stranecky, V., Janatova, M., Hartmannova, H., Hodanova, K., Kmoch, S., Kleibl, Z.

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Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles von Hodaňová, Kateřina, Hřebı́ček, Martin, Červenková, Markéta, Mrázová, Lenka, Vepřeková, Lenka, Zeman, Jiřı́

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females von Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease von Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G, Pengelly, Reuben J, Gale, Daniel P, Connor, Thomas M, Bunyan, David J, Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G

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WCN23-0647 FAMILIAL HYPERURICEMIC INTERSTITIAL NEPHRITIS, A CHALLENGE FOR ETIOLOGIC DIAGNOSIS von SANTOS, A., Brás, A.C., Curto, A., Ramos, M., Kmochova, T., Hodanova, K., Zivna, M., Bleyer, A., Kmoch, S., Soto, K.

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 von 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

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness von Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

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Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41 von Hodaňová, Kateřina, Majewski, Jacek, Kublová, Martina, Vyleťal, Petr, Kalbáčová, Marie, Stibůrková, Blanka, Hůlková, Helena, Chagnon, Yvon C., Lanouette, Christian-Marc, Marinaki, Anthony, Fryns, Jean-Pierre, Venkat-Raman, Gopalakrishnan, Kmoch, Stanislav

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Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients von Hodaňová, K., Hřebíček, M., Červenková, M., Aerts, J. M. F. G., Zeman, J.

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A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency von HREBICEK, M, ZEMAN, J, ELLEDER, M, MUSILOVA, J, HODANOVA, K, HERMA RENKEMA, G, VEPREKOVA, L, LEDVINOVA, J, HREBICEK, D, SOKOLOVA, J, AERTS, J. M. F. G

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Cells of porcine epidermis and corneal epithelium are not recognized by human natural anti-alpha-galactoside IgG von Hrdlicková-Cela, E, Smetana, Jr, K, Plzák, J, Holíková, Z, André, S, Hrebícek, M, Hodanová, K, Dvoránková, B, Motík, J, Gabius, H J

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Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system von Hodaňová, Kateřina, Mělková, Zora, Horowitz, Mia, Hřebíček, Martin

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Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.... von Stibůrková, Blanka, Majewski, Jacek, Hodaňová, Kateřina, Ondrová, Lenka, Jeřábková, Markéta, Zikánová, Marie, Vylet'al, Petr, Šebesta, Ivan, Marinaki, Anthony, Simmonds, Anne, Matthijs, Gert, Fryns, Jean-Pierre, Torres, Rosa, Puig, Juan García, Ott, Jurg, Kmoch, Stanislav

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More on Clinical Renal Genetics von 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

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More on clinical renal genetics von 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, F, Vanslembrouck, R, 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, 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, Brown, Ej, Schlöndorff, Js, Becker, Dj, Tsukaguchi, H, Uschinski, Al, Higgs, Hn, Henderson, Jm, Pollak, Mr

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More on clinical renal genetics von 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

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Iliopsoas hematoma in a young patient with type I Gaucher disease von Jmoudiak, Marina, Itzchaki, Menachem, Hadas-Halpern, Irith, Hrebicek, Martin, Hodanova, Katerina, Elstein, Deborah, Zimran, Ari

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Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 von 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, Hyunh-Do, U, Kistler, AD, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, JA, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Kmoch, S, Bleyer, AJ, Devuyst, O

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