Thakker RV - Search Results

1

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP. Mumm S, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2000 Sep;85(9):3343-7. doi: 10.1210/jcem.85.9.6840. J Clin Endocrinol Metab. 2000. PMID: 10999831 Clinical Trial.

2

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JL. Thakker RV, et al. J Clin Invest. 1990 Jul;86(1):40-5. doi: 10.1172/JCI114712. J Clin Invest. 1990. PMID: 1973175 Free PMC article.

3

Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families.

Thakker RV, Davies KE, Read AP, Tippett P, Wooding C, Flint T, Wood S, Kruse TA, Whyte MP, O'Riordan JL. Thakker RV, et al. Genomics. 1990 Oct;8(2):189-93. doi: 10.1016/0888-7543(90)90271-u. Genomics. 1990. PMID: 1979046

4

Bridging markers defining the map position of X linked hypophosphataemic rickets.

Thakker RV, Read AP, Davies KE, Whyte MP, Weksberg R, Glorieux F, Davies M, Mountford RC, Harris R, King A, et al. Thakker RV, et al. J Med Genet. 1987 Dec;24(12):756-60. doi: 10.1136/jmg.24.12.756. J Med Genet. 1987. PMID: 2828625 Free PMC article.

5

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

6

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

7

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

Trump D, Pilia G, Dixon PH, Wooding C, Thakrar R, Leigh SE, Nagaraja R, Whyte MP, Schlessinger D, Thakker RV. Trump D, et al. Among authors: thakker rv. Hum Genet. 1996 Jan;97(1):60-8. doi: 10.1007/BF00218834. Hum Genet. 1996. PMID: 8557262

8

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. Among authors: thakker rv. Nature. 1996 Feb 1;379(6564):445-9. doi: 10.1038/379445a0. Nature. 1996. PMID: 8559248

9

Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

Courseaux A, Grosgeorge J, Gaudray P, Pannett AA, Forbes SA, Williamson C, Bassett D, Thakker RV, Teh BT, Farnebo F, Shepherd J, Skogseid B, Larsson C, Giraud S, Zhang CX, Salandre J, Calender A. Courseaux A, et al. Among authors: thakker rv. Genomics. 1996 Nov 1;37(3):354-65. Genomics. 1996. PMID: 8938448

10

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

Mumm S, Whyte MP, Thakker RV, Buetow KH, Schlessinger D. Mumm S, et al. Among authors: thakker rv. Am J Hum Genet. 1997 Jan;60(1):153-9. Am J Hum Genet. 1997. PMID: 8981958 Free PMC article.

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