Lloyd SE - Search Results

1

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: lloyd se. Hum Mol Genet. 1994 Nov;3(11):2053-9. Hum Mol Genet. 1994. PMID: 7874126

2

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).

Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW. Fisher SE, et al. Among authors: lloyd se. Genomics. 1995 Oct 10;29(3):598-606. doi: 10.1006/geno.1995.9960. Genomics. 1995. PMID: 8575751

3

Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1).

Lloyd SE, Pang JT, Pearce SH, Leigh SE, Thakker RV. Lloyd SE, et al. Hum Genet. 1997 May;99(5):585-9. doi: 10.1007/s004390050410. Hum Genet. 1997. PMID: 9150722

4

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV. Lloyd SE, et al. Hum Mol Genet. 1997 Aug;6(8):1233-9. doi: 10.1093/hmg/6.8.1233. Hum Mol Genet. 1997. PMID: 9259268

5

A common molecular basis for three inherited kidney stone diseases.

Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV. Lloyd SE, et al. Nature. 1996 Feb 1;379(6564):445-9. doi: 10.1038/379445a0. Nature. 1996. PMID: 8559248

6

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.

Pang JT, Lloyd SE, Wooding C, Farren B, Pottinger B, Harding B, Leigh SE, Pook MA, Benham FJ, Gillett GT, Taggart RT, Thakker RV. Pang JT, et al. Among authors: lloyd se. Hum Genet. 1996 Jun;97(6):732-41. doi: 10.1007/BF02346182. Hum Genet. 1996. PMID: 8641689

7

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.

Bosio M, Bianchi ML, Lloyd SE, Thakker RV. Bosio M, et al. Among authors: lloyd se. Pediatr Nephrol. 1999 May;13(4):278-83. doi: 10.1007/s004670050608. Pediatr Nephrol. 1999. PMID: 10454773

8

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Lloyd SE, Pearce SH, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV. Lloyd SE, et al. J Clin Invest. 1997 Mar 1;99(5):967-74. doi: 10.1172/JCI119262. J Clin Invest. 1997. PMID: 9062355 Free PMC article.

9

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: lloyd se. Am J Hum Genet. 1998 Feb;62(2):232-44. doi: 10.1086/301729. Am J Hum Genet. 1998. PMID: 9463336 Free PMC article.

10

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.

Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Lloyd SE, et al. Am J Hum Genet. 1999 Jan;64(1):189-95. doi: 10.1086/302202. Am J Hum Genet. 1999. PMID: 9915958 Free PMC article.

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