Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. di Lhotta, K, Piret, SE, Kramar, R, Thakker, R, Sunder-Plassmann, G, Kotanko, P

Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. di Jennings, P, Aydin, S, Kotanko, P, Lechner, J, Lhotta, K, Williams, S, Thakker, R, Pfaller, W

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. di Lemos, M, Kotanko, P, Christie, P, Harding, B, Javor, T, Smith, C, Eastell, R, Thakker, R

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. di Turner, J, Stacey, J, Harding, B, Kotanko, P, Lhotta, K, Puig, J, Roberts, I, Torres, R, Thakker, R

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. di Stacey, J, Turner, J, Harding, B, Nesbit, M, Kotanko, P, Lhotta, K, Puig, J, Torres, R, Thakker, R

Haplotypes of the beta-2 adrenergic receptor associate with high diastolic blood pressure in the Caerphilly prospective study. di Binder, A, Garcia, E, Wallace, C, Gbenga, K, Ben-Shlomo, Y, Yarnell, J, Brown, P, Caulfield, M, Skrabal, F, Kotanko, P, Munroe, P

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. di Williams, SE, Reed, A, Galvanovskis, J, Antignac, C, Goodship, T, Karet, F, Kotanko, P, Lhotta, K, Morinière, V, Williams, P, Wong, W, Rorsman, P, Thakker, R

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. di Piret, SE, Danoy, P, Dahan, K, Reed, A, Pryce, K, Wong, W, Torres, R, Puig, J, Müller, T, Kotanko, P, Lhotta, K, Devuyst, O, Brown, M, Thakker, R

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 di Piret, SE, Danoy, P, Dahan, K, Reed, A, Pryce, K, Wong, W, Torres, R, Puig, J, Müller, T, Kotanko, P, Lhotta, K, Devuyst, O, Brown, M, Thakker, R

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. di Wu, F, Reed, A, Williams, SE, Loh, N, Lippiat, J, Christie, P, Large, O, Bettinelli, A, Dillon, M, Goldraich, N, Hoppe, B, Lhotta, K, Loirat, C, Malik, R, Morel, D, Kotanko, P, Roussel, B, Rubinger, D, Schrander-Stumpel, C, Serdaroglu, E, Nesbit, M, Ashcroft, F, Thakker, R