Thakker RV - Search Results

1

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

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

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

Read AP, Thakker RV, Davies KE, Mountford RC, Brenton DP, Davies M, Glorieux F, Harris R, Hendy GN, King A, et al. Read AP, et al. Among authors: thakker rv. Hum Genet. 1986 Jul;73(3):267-70. doi: 10.1007/BF00401242. Hum Genet. 1986. PMID: 3015770

4

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

5

Linkage analysis of 7 polymorphic markers at chromosome 11p11.2-11q13 in 27 multiple endocrine neoplasia type 1 families.

Thakker RV, Wooding C, Pang JT, Farren B, Harding B, Anderson DC, Besser GM, Bouloux P, Brenton DP, Buchanan KD. Thakker RV, et al. Ann Hum Genet. 1993 Jan;57(1):17-25. doi: 10.1111/j.1469-1809.1993.tb00883.x. Ann Hum Genet. 1993. PMID: 8101435

6

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

7

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.

Pang JT, Lloyd SE, Wooding C, Farren B, Pottinger B, Harding B, Leigh SE, Pook MA, Benham FJ, Gillett GT, Taggart RT, Thakker RV. Pang JT, et al. Among authors: thakker rv. Hum Genet. 1996 Jun;97(6):732-41. doi: 10.1007/BF02346182. Hum Genet. 1996. PMID: 8641689

8

EagI and NotI linking clones from human chromosomes 11 and Xp.

Pook MA, Thakrar R, Pottinger B, Harding B, Porteous D, van Heyningen V, Cowell J, Jones C, Povey S, Davies KE, Thakker RV. Pook MA, et al. Among authors: thakker rv. Hum Genet. 1996 Jun;97(6):742-9. doi: 10.1007/BF02346183. Hum Genet. 1996. PMID: 8641690

9

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

10

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

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