Povey S - Search Results

1

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.

Ekong R, Jeremiah S, Judah D, Lehmann O, Mirzayans F, Hung YC, Walter MA, Bhattacharya S, Gant TW, Povey S, Wolfe J. Ekong R, et al. Among authors: povey s. Hum Mutat. 2004 Jul;24(1):76-85. doi: 10.1002/humu.20059. Hum Mutat. 2004. PMID: 15221791

2

Mapping ESTs to the TSC1 candidate interval by use of the 'Science 96' transcript map.

Wolfe J, Jeremiah S, Young J, Burley MW, Stewart H, McCulley M, Grant C, Naz K, Povey S. Wolfe J, et al. Among authors: povey s. Ann Hum Genet. 1997 Sep;61(Pt 5):401-9. doi: 10.1046/j.1469-1809.1997.6150401.x. Ann Hum Genet. 1997. PMID: 9459002

3

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S. Young JM, et al. Among authors: povey s. Ann Hum Genet. 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. Ann Hum Genet. 1998. PMID: 9803264

4

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS. Lehmann OJ, et al. Among authors: povey s. Am J Hum Genet. 2000 Nov;67(5):1129-35. doi: 10.1016/S0002-9297(07)62943-7. Epub 2000 Sep 27. Am J Hum Genet. 2000. PMID: 11007653 Free PMC article.

5

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T. Lehmann OJ, et al. Among authors: povey s. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9. Invest Ophthalmol Vis Sci. 2002. PMID: 12036988

6

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: povey s. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.

7

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Dufner Almeida LG, Nanhoe S, Zonta A, Hosseinzadeh M, Kom-Gortat R, Elfferich P, Schaaf G, Kenter A, Kümmel D, Migone N, Povey S, Ekong R, Nellist M. Dufner Almeida LG, et al. Among authors: povey s. Hum Mutat. 2020 Apr;41(4):759-773. doi: 10.1002/humu.23963. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31799751 Free PMC article.

8

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

Povey S, Burley MW, Attwood J, Benham F, Hunt D, Jeremiah SJ, Franklin D, Gillett G, Malas S, Robson EB. Povey S, et al. Ann Hum Genet. 1994 May;58(2):107-27. doi: 10.1111/j.1469-1809.1994.tb01881.x. Ann Hum Genet. 1994. PMID: 7979156

9

Chromosomal localisation of genes coding for human and mouse liver cytosolic cysteine dioxygenase.

Jeremiah S, McCann KP, Williams AC, Ramsden DB, Pilz AJ, Fox MF, Povey S. Jeremiah S, et al. Among authors: povey s. Ann Hum Genet. 1996 Jan;60(1):29-33. doi: 10.1111/j.1469-1809.1996.tb01169.x. Ann Hum Genet. 1996. PMID: 8835096

10

A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34.

Hornigold N, van Slegtenhorst M, Nahmias J, Ekong R, Rousseaux S, Hermans C, Halley D, Povey S, Wolfe J. Hornigold N, et al. Among authors: povey s. Genomics. 1997 May 1;41(3):385-9. doi: 10.1006/geno.1997.4681. Genomics. 1997. PMID: 9169136

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