Harding B - Search Results

1

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: harding b. J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52. doi: 10.1210/jc.2003-031016. J Clin Endocrinol Metab. 2004. PMID: 15070940

2

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: harding b. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x. Clin Endocrinol (Oxf). 2006. PMID: 16487440

3

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: harding b. 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.

4

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: harding b. Clin Endocrinol (Oxf). 2003 May;58(5):639-46. doi: 10.1046/j.1365-2265.2003.01765.x. Clin Endocrinol (Oxf). 2003. PMID: 12699448

5

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: harding b. J Med Genet. 2005 Aug;42(8):e51. doi: 10.1136/jmg.2005.032201. J Med Genet. 2005. PMID: 16061557 Free PMC article.

6

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: harding b. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. doi: 10.1210/jcem.87.6.8607. J Clin Endocrinol Metab. 2002. PMID: 12050235

7

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

Stacey JM, Turner JJ, Harding B, Nesbit MA, Kotanko P, Lhotta K, Puig JG, Torres RJ, Thakker RV. Stacey JM, et al. Among authors: harding b. J Clin Endocrinol Metab. 2003 Jan;88(1):464-70. doi: 10.1210/jc.2002-021268. J Clin Endocrinol Metab. 2003. PMID: 12519891

8

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.

Lemos MC, Kotanko P, Christie PT, Harding B, Javor T, Smith C, Eastell R, Thakker RV. Lemos MC, et al. Among authors: harding b. J Clin Endocrinol Metab. 2005 Sep;90(9):5386-92. doi: 10.1210/jc.2004-2520. Epub 2005 Jun 28. J Clin Endocrinol Metab. 2005. PMID: 15985493

9

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1.

Lemos MC, Harding B, Shalet SM, Thakker RV. Lemos MC, et al. Among authors: harding b. Clin Endocrinol (Oxf). 2007 May;66(5):709-13. doi: 10.1111/j.1365-2265.2007.02806.x. Epub 2007 Mar 27. Clin Endocrinol (Oxf). 2007. PMID: 17388795

10

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: harding b. J Clin Endocrinol Metab. 2001 Aug;86(8):3840-4. doi: 10.1210/jcem.86.8.7730. J Clin Endocrinol Metab. 2001. PMID: 11502821

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