Thakker R - Search Results

1

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.

Gaynor KU, Grigorieva IV, Mirczuk SM, Piret S, Kooblall KG, Stevenson M, Rizzoti K, Bowl MR, Nesbit MA, Christie PT, Fraser WD, Hough T, Whyte MP, Lovell-Badge R, Thakker R. Gaynor KU, et al. Among authors: thakker r. Endocr Connect. 2020 Jan 1;9(2):173-86. doi: 10.1530/EC-19-0478. Online ahead of print. Endocr Connect. 2020. PMID: 31961795 Free PMC article.

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 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

4

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.

5

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV. Pearce SH, et al. Among authors: thakker rv. Clin Endocrinol (Oxf). 1996 Dec;45(6):675-80. doi: 10.1046/j.1365-2265.1996.750891.x. Clin Endocrinol (Oxf). 1996. PMID: 9039332

6

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.

Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D. Grieff M, et al. Among authors: thakker rv. Biochem Biophys Res Commun. 1997 Feb 24;231(3):635-9. doi: 10.1006/bbrc.1997.6153. Biochem Biophys Res Commun. 1997. PMID: 9070861

7

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.

Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV. Gertner JM, et al. Among authors: thakker rv. J Bone Miner Res. 1997 Aug;12(8):1204-9. doi: 10.1359/jbmr.1997.12.8.1204. J Bone Miner Res. 1997. PMID: 9258750 Free article.

8

Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.

Grieff M, Whyte MP, Thakker RV, Mazzarella R. Grieff M, et al. Among authors: thakker rv. Genomics. 1997 Sep 1;44(2):227-31. doi: 10.1006/geno.1997.4876. Genomics. 1997. PMID: 9299240

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: 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.

10

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

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