Thakker RV - Search Results

1

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Aldred MA, et al. Among authors: thakker rv. Am J Med Genet. 2002 Nov 22;113(2):167-72. doi: 10.1002/ajmg.10751. Am J Med Genet. 2002. PMID: 12407707

2

Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.

Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV. Cullen P, et al. Among authors: thakker rv. Am J Med Genet. 1993 Nov 1;47(6):925-30. doi: 10.1002/ajmg.1320470623. Am J Med Genet. 1993. PMID: 8279492

3

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Beales PL, et al. J Med Genet. 1997 Feb;34(2):92-8. doi: 10.1136/jmg.34.2.92. J Med Genet. 1997. PMID: 9039982 Free PMC article.

4

Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.

Williamson C, Pannett AA, Pang JT, Wooding C, McCarthy M, Sheppard MN, Monson J, Clayton RN, Thakker RV. Williamson C, et al. Among authors: thakker rv. J Med Genet. 1997 Aug;34(8):617-9. doi: 10.1136/jmg.34.8.617. J Med Genet. 1997. PMID: 9279750 Free PMC article.

5

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.

6

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV. Turner JJ, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. doi: 10.1210/jcem.87.6.8607. J Clin Endocrinol Metab. 2002. PMID: 12050235

7

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV. Pannett AA, et al. Among authors: thakker rv. Clin Endocrinol (Oxf). 2003 May;58(5):639-46. doi: 10.1046/j.1365-2265.2003.01765.x. Clin Endocrinol (Oxf). 2003. PMID: 12699448

8

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

Trump D, Whyte MP, Wooding C, Pang JT, Pearce SH, Kocher DB, Thakker RV. Trump D, et al. Among authors: thakker rv. Hum Genet. 1995 Aug;96(2):183-7. doi: 10.1007/BF00207376. Hum Genet. 1995. PMID: 7635467

9

Linkage analysis of 7 polymorphic markers at chromosome 11p11.2-11q13 in 27 multiple endocrine neoplasia type 1 families.

Thakker RV, Wooding C, Pang JT, Farren B, Harding B, Anderson DC, Besser GM, Bouloux P, Brenton DP, Buchanan KD. Thakker RV, et al. Ann Hum Genet. 1993 Jan;57(1):17-25. doi: 10.1111/j.1469-1809.1993.tb00883.x. Ann Hum Genet. 1993. PMID: 8101435

10

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: thakker rv. Hum Genet. 1996 Jun;97(6):732-41. doi: 10.1007/BF02346182. Hum Genet. 1996. PMID: 8641689

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