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Results: 1-25/37
Authors:
Thakker, RV
Citation: Rv. Thakker, Molecular genetics and patient management of multiple endocrine neoplasia type I, BEST PRAC R, 15(2), 2001, pp. 189-212
Authors:
Cavaco, BM
Barros, L
Pannett, AAJ
Ruas, L
Carvalheiro, M
Ruas, MMA
Krausz, T
Santos, MA
Sobrinho, LG
Leite, V
Thakker, RV
Citation: Bm. Cavaco et al., The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred, QJM-MON J A, 94(4), 2001, pp. 213-222
Authors:
Hunter, D
De Lange, M
Snieder, H
MacGregor, AJ
Swaminathan, R
Thakker, RV
Spector, TD
Citation: D. Hunter et al., Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation, J BONE MIN, 16(2), 2001, pp. 371-378
Authors:
Salvatori, R
Thakker, RV
Lopes, MB
Fan, XG
Eswara, JR
Ellison, D
Lees, P
Harding, B
Yang, IM
Levine, MA
Citation: R. Salvatori et al., Absence of mutations in the growth hormone (GH)-releasing hormone receptorgene in GH-secreting pituitary adenomas, CLIN ENDOCR, 54(3), 2001, pp. 301-307
Authors:
Thakker, RV
Citation: Rv. Thakker, Genetic developments in hypoparathyroidism, LANCET, 357(9261), 2001, pp. 974-976
Authors:
Norden, AGW
Lapsley, M
Lee, PJ
Pusey, CD
Scheinman, SJ
Tam, FWK
Thakker, RV
Unwin, RJ
Wrong, O
Citation: Agw. Norden et al., Glomerular protein sieving and implications for renal failure in Fanconi syndrome, KIDNEY INT, 60(5), 2001, pp. 1885-1892
Authors:
Pannett, AAJ
Thakker, RV
Citation: Aaj. Pannett et Rv. Thakker, Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis, J CLIN END, 86(9), 2001, pp. 4371-4374
Authors:
Christie, PT
Harding, B
Nesbit, MA
Whyte, MP
Thakker, RV
Citation: Pt. Christie et al., X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene, J CLIN END, 86(8), 2001, pp. 3840-3844
Authors:
Christie, PT
Curley, A
Nesbit, MA
Chapman, C
Genet, S
Harper, PS
Keeling, SL
Wilkie, AOM
Winter, RM
Thakker, RV
Citation: Pt. Christie et al., Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda, J CLIN END, 86(7), 2001, pp. 3233-3236
Authors:
Trautmann, K
Thakker, RV
Ellison, DW
Ibrahim, A
Lees, PD
Harding, B
Fischer, C
Popp, S
Bartram, CR
Jauch, A
Citation: K. Trautmann et al., Chromosomal aberrations in sporadic pituitary tumors, INT J CANC, 91(6), 2001, pp. 809-814
Authors:
Lemmens, IH
Forsberg, L
Pannett, AAJ
Meyen, E
Piehl, F
Turner, JJO
Van de Ven, WJM
Thakker, RV
Larsson, C
Kas, K
Citation: Ih. Lemmens et al., Menin interacts directly with the homeobox-containing protein Pem, BIOC BIOP R, 286(2), 2001, pp. 426-431
Authors:
Yamamoto, K
Cox, JPDT
Friedrich, T
Christie, PT
Bald, M
Houtman, PN
Lapsley, MJ
Patzer, L
Tsimaratos, M
Van't Hoff, WG
Yamaoka, K
Jentsch, TJ
Thakker, RV
Citation: K. Yamamoto et al., Characterization of renal chloride channel (CLCN5) mutations in Dent's disease, J AM S NEPH, 11(8), 2000, pp. 1460-1468
Authors:
Thakker, RV
Citation: Rv. Thakker, Renal ion channels: Function and regulation - Preface, EXP NEPHROL, 8(6), 2000, pp. 319-319
Authors:
Thakker, RV
Citation: Rv. Thakker, Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome, EXP NEPHROL, 8(6), 2000, pp. 351-360
Authors:
Wang, SS
Devuyst, O
Courtoy, PJ
Wang, XT
Wang, H
Wang, YS
Thakker, RV
Guggino, S
Guggino, WB
Citation: Ss. Wang et al., Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis, HUM MOL GEN, 9(20), 2000, pp. 2937-2945
Authors:
Thakker, RV
Citation: Rv. Thakker, Multiple endocrine neoplasia type 1, END METAB C, 29(3), 2000, pp. 541
Authors:
Igarashi, T
Inatomi, J
Ohara, T
Kuwahara, T
Shimadzu, M
Thakker, RV
Citation: T. Igarashi et al., Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease, KIDNEY INT, 58(2), 2000, pp. 520-527
Authors:
Thakker, RV
Citation: Rv. Thakker, Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis, KIDNEY INT, 57(3), 2000, pp. 787-793
Authors:
Scheinman, SJ
Cox, JPD
Lloyd, SE
Pearce, SHS
Salenger, PV
Hoopes, RR
Bushinsky, DA
Wrong, O
Asplin, JR
Langman, CB
Norden, AGW
Thakker, RV
Citation: Sj. Scheinman et al., Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria, KIDNEY INT, 57(1), 2000, pp. 232-239
Authors:
Norden, AGW
Scheinman, SJ
Deschodt-Lanckman, MM
Lapsley, M
Nortier, JL
Thakker, RV
Unwin, RJ
Wrong, O
Citation: Agw. Norden et al., Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases, KIDNEY INT, 57(1), 2000, pp. 240-249
Authors:
Van Esch, H
Groenen, P
Nesbit, MA
Schuffenhauer, S
Lichtner, P
Vanderlinden, G
Harding, B
Beetz, R
Bilous, RW
Holdaway, I
Shaw, NJ
Fryns, JP
Van de Ven, WV
Thakker, RV
Devriendt, K
Citation: H. Van Esch et al., GATA3 haplo-insufficiency causes human HDR syndrome, NATURE, 406(6794), 2000, pp. 419-422
Authors:
Mumm, S
Christie, PT
Finnegan, P
Jones, J
Dixon, PH
Pannett, AAJ
Harding, B
Gottesman, GS
Thakker, RV
Whyte, MP
Citation: S. Mumm et al., A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred, J CLIN END, 85(9), 2000, pp. 3343-3347
Authors:
Sousa, MM
Norden, AGW
Jacobsen, C
Willnow, TE
Christensen, EI
Thakker, RV
Verroust, PJ
Moestrup, SK
Saraiva, MJ
Citation: Mm. Sousa et al., Evidence for the role of megalin in renal uptake of transthyretin, J BIOL CHEM, 275(49), 2000, pp. 38176-38181
Authors:
Scheinman, SJ
Thakker, RV
Citation: Sj. Scheinman et Rv. Thakker, X-linked nephrolithiasis/Dent's disease and mutations in the ClC-5 chloride channel, GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 133-152
Authors:
Thakker, RV
Citation: Rv. Thakker, Multiple endocrine neoplasia type 1 (MEN1), GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 275-294