Thakker RV - Search Results

1

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L, Stevenson M, Thakker RV. Cardoso L, et al. Among authors: thakker rv. Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25. Hum Mutat. 2017. PMID: 28881068 Free PMC article. Review.

2

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

Bradley KJ, Hobbs MR, Buley ID, Carpten JD, Cavaco BM, Fares JE, Laidler P, Manek S, Robbins CM, Salti IS, Thompson NW, Jackson CE, Thakker RV. Bradley KJ, et al. Among authors: thakker rv. J Intern Med. 2005 Jan;257(1):18-26. doi: 10.1111/j.1365-2796.2004.01421.x. J Intern Med. 2005. PMID: 15606373 Free article.

3

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Young A, Thakker RV. Bradley KJ, et al. Among authors: thakker rv. J Med Genet. 2005 Aug;42(8):e51. doi: 10.1136/jmg.2005.032201. J Med Genet. 2005. PMID: 16061557 Free PMC article.

4

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Bradley KJ, et al. Among authors: thakker rv. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x. Clin Endocrinol (Oxf). 2006. PMID: 16487440

5

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Lemos MC, Thakker RV. Lemos MC, et al. Among authors: thakker rv. Hum Mutat. 2008 Jan;29(1):22-32. doi: 10.1002/humu.20605. Hum Mutat. 2008. PMID: 17879353 Review.

6

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV. Hannan FM, et al. Among authors: thakker rv. Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8. doi: 10.1038/ncpendmet0718. Nat Clin Pract Endocrinol Metab. 2008. PMID: 18084346

7

Parafibromin--functional insights.

Newey PJ, Bowl MR, Thakker RV. Newey PJ, et al. Among authors: thakker rv. J Intern Med. 2009 Jul;266(1):84-98. doi: 10.1111/j.1365-2796.2009.02107.x. J Intern Med. 2009. PMID: 19522828 Free article. Review.

8

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

Turner JJ, Christie PT, Pearce SH, Turnpenny PD, Thakker RV. Turner JJ, et al. Among authors: thakker rv. Hum Mutat. 2010 Jan;31(1):E1089-101. doi: 10.1002/humu.21170. Hum Mutat. 2010. PMID: 19953642

9

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Newey PJ, Bowl MR, Cranston T, Thakker RV. Newey PJ, et al. Among authors: thakker rv. Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188. Hum Mutat. 2010. PMID: 20052758

10

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Among authors: thakker rv, thakker yv. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276

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