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Items: 1 to 50 of 305

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. 2020 Apr;41(4):759-773. doi: 10.1002/humu.23963. Epub 2019 Dec 19.

PMID:
31799751
2.

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Moorthie S, Blencowe H, Darlison MW, Lawn J, Morris JK, Modell B; Congenital Disorders Expert Group , Bittles AH, Blencowe H, Christianson A, Cousens S, Darlison MW, Gibbons S, Hamamy H, Khoshnood B, Howson CP, Lawn J, Mastroiacovo P, Modell B, Moorthie S, Morris JK, Mossey PA, Neville AJ, Petrou M, Povey S, Rankin J, Schuler-Faccini L, Wren C, Yunnis KA.

J Community Genet. 2018 Oct;9(4):387-396. doi: 10.1007/s12687-018-0384-2. Epub 2018 Sep 14.

3.

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Blencowe H, Moorthie S, Petrou M, Hamamy H, Povey S, Bittles A, Gibbons S, Darlison M, Modell B; Congenital Disorders Expert Group.

J Community Genet. 2018 Oct;9(4):397-406. doi: 10.1007/s12687-018-0376-2. Epub 2018 Aug 14.

4.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

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.

Molecular genetics research in sub-Saharan Africa: how can the international community help?

Bekele E, Bodmer WF, Bradman N, Craig IW, Makani J, Povey S, Rotimi C.

Hugo J. 2014 Dec;8(1):2. doi: 10.1186/s11568-014-0002-2. Epub 2014 Sep 17.

8.

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Savige J, Dalgleish R, Cotton RG, den Dunnen JT, Macrae F, Povey S.

Pediatr Nephrol. 2015 Nov;30(11):1893-901. doi: 10.1007/s00467-014-2994-1. Epub 2014 Nov 11. Review.

PMID:
25384529
9.

The 2014International Workshop on Alport Syndrome.

Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S.

Kidney Int. 2014 Oct;86(4):679-84. doi: 10.1038/ki.2014.229. Epub 2014 Jul 2.

10.

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Savige J, Dagher H, Povey S.

Hum Mutat. 2014 Jul;35(7):791-3. doi: 10.1002/humu.22588. Epub 2014 Jun 3.

PMID:
24826923
11.

Dynamics of macronutrient self-medication and illness-induced anorexia in virally infected insects.

Povey S, Cotter SC, Simpson SJ, Wilson K.

J Anim Ecol. 2014 Jan;83(1):245-55. doi: 10.1111/1365-2656.12127. Epub 2013 Sep 2.

12.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

13.

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
14.

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
15.

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
16.

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Möslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG; Human Variome Project Meeting.

Hum Mutat. 2010 Dec;31(12):1374-81. doi: 10.1002/humu.21379.

17.

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO).

Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339.

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.

Sharing data between LSDBs and central repositories.

den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S, Talbot CC Jr, Hardison RC, Povey S, Cotton RG.

Hum Mutat. 2009 Apr;30(4):493-5. doi: 10.1002/humu.20977.

21.

Can the protein costs of bacterial resistance be offset by altered feeding behaviour?

Povey S, Cotter SC, Simpson SJ, Lee KP, Wilson K.

J Anim Ecol. 2009 Mar;78(2):437-46. doi: 10.1111/j.1365-2656.2008.01499.x. Epub 2008 Nov 4.

PMID:
19021780
22.

GENETICS. The Human Variome Project.

Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M.

Science. 2008 Nov 7;322(5903):861-2. doi: 10.1126/science.1167363.

23.

Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population.

Nikali K, Vanegas JJ, Burley MW, Martinez J, Lopez LM, Bedoya G, Wrong OM, Povey S, Unwin RJ, Ruiz-Linares A.

Am J Med Genet A. 2008 Oct 15;146A(20):2709-12. doi: 10.1002/ajmg.a.32495. No abstract available.

PMID:
18798332
24.

Human and mouse gene nomenclature.

Wain H, Povey S, Maltais L.

Curr Protoc Hum Genet. 2003 Feb;Appendix 1:Appendix 1C. doi: 10.1002/0471142905.hga01cs35.

PMID:
18428336
25.

Recommendations for locus-specific databases and their curation.

Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT.

Hum Mutat. 2008 Jan;29(1):2-5.

26.

The HGNC Database in 2008: a resource for the human genome.

Bruford EA, Lush MJ, Wright MW, Sneddon TP, Povey S, Birney E.

Nucleic Acids Res. 2008 Jan;36(Database issue):D445-8. Epub 2007 Nov 4.

27.

Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin.

Davies KJ, Ermak G, Rothermel BA, Pritchard M, Heitman J, Ahnn J, Henrique-Silva F, Crawford D, Canaider S, Strippoli P, Carinci P, Min KT, Fox DS, Cunningham KW, Bassel-Duby R, Olson EN, Zhang Z, Williams RS, Gerber HP, Pérez-Riba M, Seo H, Cao X, Klee CB, Redondo JM, Maltais LJ, Bruford EA, Povey S, Molkentin JD, McKeon FD, Duh EJ, Crabtree GR, Cyert MS, de la Luna S, Estivill X.

FASEB J. 2007 Oct;21(12):3023-8. Epub 2007 Jun 26. No abstract available.

PMID:
17595344
28.

A revised nomenclature for the human and rodent alpha-tubulin gene family.

Khodiyar VK, Maltais LJ, Ruef BJ, Sneddon KM, Smith JR, Shimoyama M, Cabral F, Dumontet C, Dutcher SK, Harvey RJ, Lafanechère L, Murray JM, Nogales E, Piquemal D, Stanchi F, Povey S, Lovering RC.

Genomics. 2007 Aug;90(2):285-9. Epub 2007 Jun 1. Erratum in: Genomics. 2009 Apr;93(4):397. Ruef, Barbara J [added].

29.

The HUGO Gene Nomenclature Database, 2006 updates.

Eyre TA, Ducluzeau F, Sneddon TP, Povey S, Bruford EA, Lush MJ.

Nucleic Acids Res. 2006 Jan 1;34(Database issue):D319-21.

30.

HCOP: the HGNC comparison of orthology predictions search tool.

Wright MW, Eyre TA, Lush MJ, Povey S, Bruford EA.

Mamm Genome. 2005 Nov;16(11):827-8. Epub 2005 Nov 11.

PMID:
16284797
31.

Gene map of the extended human MHC.

Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, Lush MJ, Povey S, Talbot CC Jr, Wright MW, Wain HM, Trowsdale J, Ziegler A, Beck S.

Nat Rev Genet. 2004 Dec;5(12):889-99. Review.

PMID:
15573121
32.

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.

Hum Mol Genet. 2004 Dec 15;13(24):3089-102. Epub 2004 Oct 27.

PMID:
15509594
33.

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
34.

DNA sequence and analysis of human chromosome 9.

Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blöcker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I.

Nature. 2004 May 27;429(6990):369-74.

35.

Genew: the Human Gene Nomenclature Database, 2004 updates.

Wain HM, Lush MJ, Ducluzeau F, Khodiyar VK, Povey S.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D255-7.

36.

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.

Jeganathan D, Fox MF, Young JM, Yates JR, Osborne JP, Povey S.

Hum Genet. 2002 Dec;111(6):555-65. Epub 2002 Sep 19.

PMID:
12436247
37.

Smelling of roses?

Povey S, Wain H.

Genome Biol. 2002;3(6):INTERACTIONS1003. Epub 2002 May 31. Review. No abstract available.

38.

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
39.

Guidelines for human gene nomenclature.

Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S.

Genomics. 2002 Apr;79(4):464-70. No abstract available.

PMID:
11944974
40.

The HUGO Gene Nomenclature Committee (HGNC).

Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H.

Hum Genet. 2001 Dec;109(6):678-80. Epub 2001 Oct 24. No abstract available.

PMID:
11810281
41.

Genew: the human gene nomenclature database.

Wain HM, Lush M, Ducluzeau F, Povey S.

Nucleic Acids Res. 2002 Jan 1;30(1):169-71.

42.

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.

Am J Hum Genet. 2000 Nov;67(5):1129-35. Epub 2000 Sep 27.

43.

Non-penetrance in tuberous sclerosis.

Osborne JP, Jones AC, Burley MW, Jeganathan D, Young J, O'Callaghan FJ, Sampson JR, Povey S.

Lancet. 2000 May 13;355(9216):1698.

PMID:
10905251
44.

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.

Am J Hum Genet. 2000 Aug;67(2):357-68. Epub 2000 Jul 5.

45.

Hemochromatosis gene nomenclature.

Wain HM, White JA, Bruford E, Povey S.

Am J Med Genet. 2000 Jul 3;93(1):77. No abstract available.

PMID:
10861687
46.

Report and abstracts of the Sixth International Workshop on chromosome 9.

Chadwick BP, Campbell LJ, Jackson CL, Ozelius L, Slaugenhaupt SA, Stephenson DA, Edwards JH, Wiest J, Povey S.

Ann Hum Genet. 1999 Mar;63(Pt 2):101-24.

48.

Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online.

Astrinidis A, Kouvatsi A, Nahmias J, Povey S, Pandeliadis C, Danzaki A, Schneider M, Triantaphyllidis C.

Hum Mutat. 1998;12(3):217.

PMID:
10660335
49.

Report of the Second International Nomenclature Workshop. Cambridge, United Kingdom, May 1-2, 1999.

White JA, Apweiler R, Blake JA, Eppig JT, Maltais LJ, Povey S.

Genomics. 1999 Dec 1;62(2):320-3. No abstract available.

PMID:
10610731
50.

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