Harding B - Search Results

1

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: harding b. Genomics. 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003. Genomics. 2004. PMID: 15533723

2

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV. Bowl MR, et al. Among authors: harding b. J Clin Invest. 2005 Oct;115(10):2822-31. doi: 10.1172/JCI24156. Epub 2005 Sep 15. J Clin Invest. 2005. PMID: 16167084 Free PMC article.

3

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV. Nesbit MA, et al. Among authors: harding b. J Biol Chem. 2004 May 21;279(21):22624-34. doi: 10.1074/jbc.M401797200. Epub 2004 Feb 24. J Biol Chem. 2004. PMID: 14985365 Free article.

4

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. Among authors: harding b. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.

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

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

7

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Ali A, et al. Among authors: harding b. Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8. Hum Mol Genet. 2007. PMID: 17210674

8

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

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

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

Lemos MC, Harding B, Reed AA, Jeyabalan J, Walls GV, Bowl MR, Sharpe J, Wedden S, Moss JE, Ross A, Davidson D, Thakker RV. Lemos MC, et al. Among authors: harding b. J Endocrinol. 2009 Oct;203(1):133-42. doi: 10.1677/JOE-09-0124. Epub 2009 Jul 8. J Endocrinol. 2009. PMID: 19587266

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

403 results

Search Page

Filters