Thakker RV - Search Results

1

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Cranston T, Boon H, Olesen MK, Ryan FJ, Shears D, London R, Rostom H, Elajnaf T, Thakker RV, Hannan FM. Cranston T, et al. Among authors: thakker rv. Eur J Endocrinol. 2022 May 24;187(1):111-122. doi: 10.1530/EJE-21-0730. Eur J Endocrinol. 2022. PMID: 35521792 Free PMC article.

2

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

3

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.

Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van't Hoff WG. Waller S, et al. Eur J Pediatr. 2004 Oct;163(10):589-94. doi: 10.1007/s00431-004-1491-0. Eur J Pediatr. 2004. PMID: 15241688

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

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.

Harding B, Curley AJ, Hannan FM, Christie PT, Bowl MR, Turner JJ, Barber M, Gillham-Nasenya I, Hampson G, Spector TD, Thakker RV. Harding B, et al. Among authors: thakker rv. Clin Endocrinol (Oxf). 2006 Nov;65(5):598-605. doi: 10.1111/j.1365-2265.2006.02634.x. Clin Endocrinol (Oxf). 2006. PMID: 17054460

6

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: thakker rv. 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

7

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

8

Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1.

Hannan FM, Athanasou NA, Teh J, Gibbons CL, Shine B, Thakker RV. Hannan FM, et al. Among authors: thakker rv. Eur J Endocrinol. 2008 Feb;158(2):265-71. doi: 10.1530/EJE-07-0485. Eur J Endocrinol. 2008. PMID: 18230836

9

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S, Johnson PR, Phillips RR, Ryan FJ, Shine B, Bowl MR, Thakker RV. Newey PJ, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2009 Oct;94(10):3640-6. doi: 10.1210/jc.2009-0564. Epub 2009 Jul 21. J Clin Endocrinol Metab. 2009. PMID: 19622622

10

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV. Gaynor KU, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2009 Oct;94(10):3897-904. doi: 10.1210/jc.2009-0717. Epub 2009 Sep 1. J Clin Endocrinol Metab. 2009. PMID: 19723756

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