Thakker RV - Search Results

1

Skeletal and extraskeletal disorders of biomineralization.

Collins MT, Marcucci G, Anders HJ, Beltrami G, Cauley JA, Ebeling PR, Kumar R, Linglart A, Sangiorgi L, Towler DA, Weston R, Whyte MP, Brandi ML, Clarke B, Thakker RV. Collins MT, et al. Among authors: thakker rv. Nat Rev Endocrinol. 2022 Aug;18(8):473-489. doi: 10.1038/s41574-022-00682-7. Epub 2022 May 16. Nat Rev Endocrinol. 2022. PMID: 35578027 Review.

2

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

3

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.

4

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

5

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

6

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

7

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. Among authors: thakker rv. Am J Hum Genet. 1999 Jan;64(1):189-95. doi: 10.1086/302202. Am J Hum Genet. 1999. PMID: 9915958 Free PMC article.

8

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.

9

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.

Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV. Christie PT, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2001 Aug;86(8):3840-4. doi: 10.1210/jcem.86.8.7730. J Clin Endocrinol Metab. 2001. PMID: 11502821

10

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV. Andrew Nesbit M, et al. Among authors: thakker rv. Genomics. 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003. Genomics. 2004. PMID: 15533723

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