Thakker RV - Search Results

1

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.

2

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

Szabó J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, Besser GM, Thakker RV, Huff V, et al. Szabó J, et al. Among authors: thakker rv. Am J Hum Genet. 1995 Apr;56(4):944-50. Am J Hum Genet. 1995. PMID: 7717405 Free PMC article.

3

Clinical studies of multiple endocrine neoplasia type 1 (MEN1).

Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, Edwards CR, Heath DA, Jackson CE, Jansen S, Lips K, Monson JP, O'Halloran D, Sampson J, Shalet SM, Wheeler MH, Zink A, Thakker RV. Trump D, et al. Among authors: thakker rv. QJM. 1996 Sep;89(9):653-69. doi: 10.1093/qjmed/89.9.653. QJM. 1996. PMID: 8917740

4

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

Williamson C, Cavaco BM, Jauch A, Dixon PH, Forbes S, Harding B, Holtgreve-Grez H, Schoell B, Pereira MC, Font AP, Loureiro MM, Sobrinho LG, Santos MA, Thakker RV. Williamson C, et al. Among authors: thakker rv. J Bone Miner Res. 1999 Feb;14(2):230-9. doi: 10.1359/jbmr.1999.14.2.230. J Bone Miner Res. 1999. PMID: 9933477 Free article.

5

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

Cavaco BM, Barros L, Pannett AA, Ruas L, Carvalheiro M, Ruas MM, Krausz T, Santos MA, Sobrinho LG, Leite V, Thakker RV. Cavaco BM, et al. Among authors: thakker rv. QJM. 2001 Apr;94(4):213-22. doi: 10.1093/qjmed/94.4.213. QJM. 2001. PMID: 11294964

6

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions.

Cavaco BM, Domingues R, Bacelar MC, Cardoso H, Barros L, Gomes L, Ruas MM, Agapito A, Garrão A, Pannett AA, Silva JL, Sobrinho LG, Thakker RV, Leite V. Cavaco BM, et al. Among authors: thakker rv. Clin Endocrinol (Oxf). 2002 Apr;56(4):465-73. doi: 10.1046/j.1365-2265.2002.01505.x. Clin Endocrinol (Oxf). 2002. PMID: 11966739

7

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

8

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. Carpten JD, et al. Among authors: thakker rv. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154

9

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

10

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V. Cavaco BM, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52. doi: 10.1210/jc.2003-031016. J Clin Endocrinol Metab. 2004. PMID: 15070940

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