Povey S - Search Results

1

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

2

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.

3

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

4

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

5

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Rana NA, Ebenezer ND, Webster AR, Linares AR, Whitehouse DB, Povey S, Hardcastle AJ. Rana NA, et al. Among authors: povey s. Hum Mol Genet. 2004 Dec 15;13(24):3089-102. doi: 10.1093/hmg/ddh337. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509594

6

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

7

Persistent severe polyuria after renal transplant.

Wong T, Laing C, Ekong R, Povey S, Unwin RJ. Wong T, et al. Among authors: povey s. Clin Kidney J. 2016 Apr;9(2):180-3. doi: 10.1093/ckj/sfv100. Epub 2015 Oct 20. Clin Kidney J. 2016. PMID: 26985366 Free PMC article.

8

The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.

Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. Lai CS, et al. Among authors: povey s. Am J Hum Genet. 2000 Aug;67(2):357-68. doi: 10.1086/303011. Epub 2000 Jul 5. Am J Hum Genet. 2000. PMID: 10880297 Free PMC article.

9

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.

Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, den Dunnen JT, van den Ouweland A, Halley D, Nellist M. Mozaffari M, et al. Among authors: povey s. BMC Med Genet. 2009 Sep 11;10:88. doi: 10.1186/1471-2350-10-88. BMC Med Genet. 2009. PMID: 19747374 Free PMC article.

10

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: povey s. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

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