Thakker RV - Search Results

1

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A, Dillon MJ, Goldraich NP, Hoppe B, Lhotta K, Loirat C, Malik R, Morel D, Kotanko P, Roussel B, Rubinger D, Schrander-Stumpel C, Serdaroglu E, Nesbit MA, Ashcroft F, Thakker RV. Wu F, et al. Among authors: thakker rv. Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20. Nephron Physiol. 2009. PMID: 19546591

2

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW. Fisher SE, et al. Among authors: thakker rv. Hum Mol Genet. 1994 Nov;3(11):2053-9. Hum Mol Genet. 1994. PMID: 7874126

3

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV. Bassett JH, et al. Among authors: thakker rv. Am J Hum Genet. 1998 Feb;62(2):232-44. doi: 10.1086/301729. Am J Hum Genet. 1998. PMID: 9463336 Free PMC article.

4

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Dixon PH, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23. doi: 10.1210/jcem.83.10.5180. J Clin Endocrinol Metab. 1998. PMID: 9768674

5

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Devuyst O, et al. Among authors: thakker rv. Hum Mol Genet. 1999 Feb;8(2):247-57. doi: 10.1093/hmg/8.2.247. Hum Mol Genet. 1999. PMID: 9931332

6

Renal chloride channel, CLCN5, mutations in Dent's disease.

Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV. Cox JP, et al. Among authors: thakker rv. J Bone Miner Res. 1999 Sep;14(9):1536-42. doi: 10.1359/jbmr.1999.14.9.1536. J Bone Miner Res. 1999. PMID: 10469281 Free article.

7

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.

Thakker RV. Thakker RV. Kidney Int. 2000 Mar;57(3):787-93. doi: 10.1046/j.1523-1755.2000.00916.x. Kidney Int. 2000. PMID: 10720930 Free article. Review.

8

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.

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. Yamamoto K, et al. Among authors: thakker rv. J Am Soc Nephrol. 2000 Aug;11(8):1460-1468. doi: 10.1681/ASN.V1181460. J Am Soc Nephrol. 2000. PMID: 10906159

9

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.

Thakker RV. Thakker RV. Exp Nephrol. 2000 Nov-Dec;8(6):351-60. doi: 10.1159/000020689. Exp Nephrol. 2000. PMID: 11014932 Review.

10

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Christie PT, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688. J Clin Endocrinol Metab. 2001. PMID: 11443194

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