Ekong R - 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. Hum Mutat. 2004 Jul;24(1):76-85. doi: 10.1002/humu.20059. Hum Mutat. 2004. PMID: 15221791

2

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: ekong r. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9. Invest Ophthalmol Vis Sci. 2002. PMID: 12036988

3

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. 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.

4

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: ekong r. 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.

5

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: ekong r. 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

6

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: ekong r. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039

7

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: ekong r. Genomics. 1997 May 1;41(3):385-9. doi: 10.1006/geno.1997.4681. Genomics. 1997. PMID: 9169136

8

Advances in fluorescent in situ hybridisation.

Ekong R, Wolfe J. Ekong R, et al. Curr Opin Biotechnol. 1998 Feb;9(1):19-24. doi: 10.1016/s0958-1669(98)80079-7. Curr Opin Biotechnol. 1998. PMID: 9503583 Review.

9

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: ekong r. Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17. Hum Mutat. 2012. PMID: 22161988

10

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: ekong r. Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22903760

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