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Items: 35

1.

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.

Hum Mutat. 2019 Dec 4. doi: 10.1002/humu.23963. [Epub ahead of print]

PMID:
31799751
2.

Checklist for gene/disease-specific variation database curators to enable ethical data management.

Ekong R, Vihinen M.

Hum Mutat. 2019 Oct;40(10):1634-1640. doi: 10.1002/humu.23881. Epub 2019 Aug 17.

PMID:
31347738
3.

In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942-2019].

Ekong R.

Hum Mutat. 2019 Oct;40(10):1627-1629. doi: 10.1002/humu.23766. Epub 2019 Jul 25. No abstract available.

PMID:
31344306
4.

Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications.

Creemer OJ, Ansari-Pour N, Ekong R, Tarekegn A, Plaster C, Bains RK, Itan Y, Bekele E, Bradman N.

Pharmacogenet Genomics. 2016 Jun;26(6):255-70. doi: 10.1097/FPC.0000000000000207.

PMID:
27139836
5.

Persistent severe polyuria after renal transplant.

Wong T, Laing C, Ekong R, Povey S, Unwin RJ.

Clin Kidney J. 2016 Apr;9(2):180-3. doi: 10.1093/ckj/sfv100. Epub 2015 Oct 20.

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.

Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12.

7.

Diversity of lactase persistence in African milk drinkers.

Jones BL, Oljira T, Liebert A, Zmarz P, Montalva N, Tarekeyn A, Ekong R, Thomas MG, Bekele E, Bradman N, Swallow DM.

Hum Genet. 2015 Aug;134(8):917-25. doi: 10.1007/s00439-015-1573-2. Epub 2015 Jun 9.

8.

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians.

Pagani L, Schiffels S, Gurdasani D, Danecek P, Scally A, Chen Y, Xue Y, Haber M, Ekong R, Oljira T, Mekonnen E, Luiselli D, Bradman N, Bekele E, Zalloua P, Durbin R, Kivisild T, Tyler-Smith C.

Am J Hum Genet. 2015 Jun 4;96(6):986-91. doi: 10.1016/j.ajhg.2015.04.019. Epub 2015 May 28.

9.

The African Genome Variation Project shapes medical genetics in Africa.

Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I, Hatzikotoulas K, Karthikeyan S, Iles L, Pollard MO, Choudhury A, Ritchie GR, Xue Y, Asimit J, Nsubuga RN, Young EH, Pomilla C, Kivinen K, Rockett K, Kamali A, Doumatey AP, Asiki G, Seeley J, Sisay-Joof F, Jallow M, Tollman S, Mekonnen E, Ekong R, Oljira T, Bradman N, Bojang K, Ramsay M, Adeyemo A, Bekele E, Motala A, Norris SA, Pirie F, Kaleebu P, Kwiatkowski D, Tyler-Smith C, Rotimi C, Zeggini E, Sandhu MS.

Nature. 2015 Jan 15;517(7534):327-32. doi: 10.1038/nature13997. Epub 2014 Dec 3.

10.

Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.

Huerta-Sánchez E, Degiorgio M, Pagani L, Tarekegn A, Ekong R, Antao T, Cardona A, Montgomery HE, Cavalleri GL, Robbins PA, Weale ME, Bradman N, Bekele E, Kivisild T, Tyler-Smith C, Nielsen R.

Mol Biol Evol. 2013 Aug;30(8):1877-88. doi: 10.1093/molbev/mst089. Epub 2013 May 10.

11.

The frequency of an IL-18-associated haplotype in Africans.

Thompson SR, Humphries SE, Thomas MG, Ekong R, Tarekegn A, Bekele E, Creemer O, Bradman N, Veeramah KR.

Eur J Hum Genet. 2013 Apr;21(4):465-8. doi: 10.1038/ejhg.2012.184. Epub 2012 Aug 29.

12.

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.

Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Erratum in: Hum Mutat. 2013 Feb;34(2):408-10. van Eeghen, Agnies M [added]; Thiele, Elizabeth A [added].

PMID:
22903760
13.

Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool.

Pagani L, Kivisild T, Tarekegn A, Ekong R, Plaster C, Gallego Romero I, Ayub Q, Mehdi SQ, Thomas MG, Luiselli D, Bekele E, Bradman N, Balding DJ, Tyler-Smith C.

Am J Hum Genet. 2012 Jul 13;91(1):83-96. doi: 10.1016/j.ajhg.2012.05.015. Epub 2012 Jun 21.

14.

Common inherited mitochondrial DNA mutations and nucleoside reverse transcriptase inhibitor-induced severe hyperlactataemia in HIV-infected adults: an exploratory study.

Arenas-Pinto A, Weller I, Ekong R, Grant A, Karstaedt A, Reiss P, Telisinghe L, Weber R, Bolhaar M, Bradman N, Ingram C.

Antivir Ther. 2012;17(2):275-82. doi: 10.3851/IMP1947. Epub 2011 Nov 7. Erratum in: Antivir Ther. 2012;17(6):1103-4.

PMID:
22293466
15.

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.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PMID:
22161988
16.

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.

Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8.

PMID:
21309039
17.

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M; members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups.

Genet Med. 2009 Dec;11(12):843-9. doi: 10.1097/GIM.0b013e3181c371c5.

PMID:
20010362
18.

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.

BMC Med Genet. 2009 Sep 11;10:88. doi: 10.1186/1471-2350-10-88.

19.

Planning the human variome project: the Spain report.

Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting.

Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972.

20.

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.

Hum Mutat. 2004 Jul;24(1):76-85.

PMID:
15221791
21.

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.

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

PMID:
12036988
22.

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.

Ann Hum Genet. 1998 May;62(Pt 3):203-13.

23.

The human glucosamine-6-phosphate deaminase gene: cDNA cloning and expression, genomic organization and chromosomal localization.

Shevchenko V, Hogben M, Ekong R, Parrington J, Lai FA.

Gene. 1998 Aug 17;216(1):31-8.

PMID:
9714720
24.

Advances in fluorescent in situ hybridisation.

Ekong R, Wolfe J.

Curr Opin Biotechnol. 1998 Feb;9(1):19-24. Review.

PMID:
9503583
25.

Dynamic molecular combing: stretching the whole human genome for high-resolution studies.

Michalet X, Ekong R, Fougerousse F, Rousseaux S, Schurra C, Hornigold N, van Slegtenhorst M, Wolfe J, Povey S, Beckmann JS, Bensimon A.

Science. 1997 Sep 5;277(5331):1518-23.

26.

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.

Science. 1997 Aug 8;277(5327):805-8.

27.

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.

Genomics. 1997 May 1;41(3):385-9.

PMID:
9169136
28.

Construction of a radiation hybrid map of chromosome 9p.

Bouzyk M, Bryant SP, Schmitt K, Goodfellow PN, Ekong R, Spurr NK.

Genomics. 1996 Jun 1;34(2):187-92.

PMID:
8661047
29.

Construction and characterization of a highly stable human: rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies.

Cuthbert AP, Trott DA, Ekong RM, Jezzard S, England NL, Themis M, Todd CM, Newbold RF.

Cytogenet Cell Genet. 1995;71(1):68-76.

PMID:
7606932
30.

Transcripts of the multidrug resistance genes in chloroquine-sensitive and chloroquine-resistant Plasmodium falciparum.

Ekong RM, Robson KJ, Baker DA, Warhurst DC.

Parasitology. 1993 Feb;106 ( Pt 2):107-15.

PMID:
8446468
31.

Plasmodium falciparum: effects of phaeanthine, a naturally-occurring bisbenzylisoquinoline alkaloid, on chloroquine-resistant and -sensitive parasites in vitro, and its influence on chloroquine activity.

Ekong R, Partridge SJ, Anderson MM, Kirby GC, Warhurst DC, Russell PF, Phillipson JD.

Ann Trop Med Parasitol. 1991 Apr;85(2):205-13.

PMID:
1796863
32.

The chemotherapy of rodent malaria. XLV. Reversal of chloroquine resistance in rodent and human Plasmodium by antihistaminic agents.

Peters W, Ekong R, Robinson BL, Warhurst DC, Pan XQ.

Ann Trop Med Parasitol. 1990 Dec;84(6):541-51.

PMID:
1981663
33.

Synergism between arteether and mefloquine or quinine in a multidrug-resistant strain of Plasmodium falciparum in vitro.

Ekong R, Warhurst DC.

Trans R Soc Trop Med Hyg. 1990 Nov-Dec;84(6):757-8. No abstract available.

PMID:
2096497
34.
35.

Antihistaminic drugs that reverse chloroquine resistance in Plasmodium falciparum.

Peters W, Ekong R, Robinson BL, Warhurst DC, Pan XQ.

Lancet. 1989 Aug 5;2(8658):334-5. No abstract available.

PMID:
2569137

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