Thakker RV - Search Results

1

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

2

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.

Parkinson DB, Thakker RV. Parkinson DB, et al. Among authors: thakker rv. Nat Genet. 1992 May;1(2):149-52. doi: 10.1038/ng0592-149. Nat Genet. 1992. PMID: 1302009

3

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW. Fisher SE, et al. Among authors: thakker rv. Hum Mol Genet. 1994 Nov;3(11):2053-9. Hum Mol Genet. 1994. PMID: 7874126

4

Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism.

Parkinson DB, Shaw NJ, Himsworth RL, Thakker RV. Parkinson DB, et al. Among authors: thakker rv. Hum Genet. 1993 Apr;91(3):281-4. doi: 10.1007/BF00218273. Hum Genet. 1993. PMID: 8478012

5

Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1).

Lloyd SE, Pang JT, Pearce SH, Leigh SE, Thakker RV. Lloyd SE, et al. Among authors: thakker rv. Hum Genet. 1997 May;99(5):585-9. doi: 10.1007/s004390050410. Hum Genet. 1997. PMID: 9150722

6

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV. Lloyd SE, et al. Among authors: thakker rv. Hum Mol Genet. 1997 Aug;6(8):1233-9. doi: 10.1093/hmg/6.8.1233. Hum Mol Genet. 1997. PMID: 9259268

7

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV. Bassett JH, et al. Among authors: thakker rv. Am J Hum Genet. 1998 Feb;62(2):232-44. doi: 10.1086/301729. Am J Hum Genet. 1998. PMID: 9463336 Free PMC article.

8

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Trump D, Dixon PH, Mumm S, Wooding C, Davies KE, Schlessinger D, Whyte MP, Thakker RV. Trump D, et al. Among authors: thakker rv. J Med Genet. 1998 Nov;35(11):905-9. doi: 10.1136/jmg.35.11.905. J Med Genet. 1998. PMID: 9832036 Free PMC article.

9

GATA3 haplo-insufficiency causes human HDR syndrome.

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: thakker rv. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639

10

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Christie PT, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688. J Clin Endocrinol Metab. 2001. PMID: 11443194

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