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    Results: 1 to 50 of 83

    1.

    Mutational screening of VSX1 in keratoconus patients from the European population.

    Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Héon E, Willoughby CE.

    Eye (Lond). 2009 Sep 18. [Epub ahead of print]PMID: 19763142 [PubMed - as supplied by publisher]Related articles

    2.

    The influence of COX-2 single nucleotide polymorphisms on abdominal aortic aneurysm development and the associated inflammation.

    Badger SA, Soong CV, Young IS, McGinty A, Mercer C, Hughes AE.

    Angiology. 2009 Oct-Nov;60(5):576-81. Epub 2009 Jul 21.PMID: 19625268 [PubMed - indexed for MEDLINE]Related articles

    3.

    VEGF and age-related macular degeneration.

    McKay GJ, Silvestri G, Orr N, Chakravarthy U, Hughes AE.

    Ophthalmology. 2009 Jun;116(6):1227.e1-3. No abstract available. PMID: 19486801 [PubMed - indexed for MEDLINE]Related articles

    4.

    Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.

    Meng W, Hughes AE, Patterson CC, Belton C, Kee F, McKeown PP.

    Dis Markers. 2008;25(2):81-5.PMID: 18957718 [PubMed - indexed for MEDLINE]Related articles

    5.

    C-reactive protein (CRP) elevation in patients with abdominal aortic aneurysm is independent of the most important CRP genetic polymorphism.

    Badger SA, Soong CV, O'Donnell ME, Mercer C, Young IS, Hughes AE.

    J Vasc Surg. 2009 Jan;49(1):178-84. Epub 2008 Oct 1.PMID: 18829218 [PubMed - indexed for MEDLINE]Related articles

    6.

    Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.

    McKay GJ, Silvestri G, Patterson CC, Hogg RE, Chakravarthy U, Hughes AE.

    Invest Ophthalmol Vis Sci. 2009 Feb;50(2):533-9. Epub 2008 Sep 20.PMID: 18806297 [PubMed - indexed for MEDLINE]Related articles

    7.

    Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

    Hughes AE, Orr N, Patterson C, Esfandiary H, Hogg R, McConnell V, Silvestri G, Chakravarthy U.

    PLoS Med. 2007 Dec;4(12):e355.PMID: 18162041 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

    Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE.

    J Bone Miner Metab. 2007;25(3):159-64. Epub 2007 Apr 20.PMID: 17447113 [PubMed - indexed for MEDLINE]Related articles

    9.

    Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

    Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C.

    PLoS Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.PMID: 17367211 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma.

    Murphy SJ, Hughes AE, Patterson CC, Anderson LA, Watson RG, Johnston BT, Comber H, McGuigan J, Reynolds JV, Murray LJ.

    Carcinogenesis. 2007 Jun;28(6):1323-8. Epub 2007 Feb 2.PMID: 17277236 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

    Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U.

    Nat Genet. 2006 Oct;38(10):1173-7. Epub 2006 Sep 24. Erratum in: Nat Genet. 2007 Apr;39(4):567. PMID: 16998489 [PubMed - indexed for MEDLINE]Related articles

    12.

    Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

    Horan PG, Allen AR, Hughes AE, Patterson CC, Spence M, McGlinchey PG, Belton C, Jardine TC, McKeown PP.

    BMC Med Genet. 2006 Jul 27;7:65.PMID: 16872533 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis.

    Dash DP, Silvestri G, Hughes AE.

    Mol Vis. 2006 May 12;12:499-505.PMID: 16735990 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Mutation analysis in Irish families with glomuvenous malformations.

    O'Hagan AH, Moloney FJ, Buckley C, Bingham EA, Walsh MY, McKenna KE, McGibbon D, Hughes AE.

    Br J Dermatol. 2006 Mar;154(3):450-2. Erratum in: Br J Dermatol. 2006 Apr;154(4):807. Maloney, F [corrected to Moloney, FJ]. PMID: 16445774 [PubMed - indexed for MEDLINE]Related articles

    15.

    Retinal vein occlusion, homocysteine, and methylene tetrahydrofolate reductase genotype.

    McGimpsey SJ, Woodside JV, Bamford L, Gilchrist SE, Graydon R, McKeeman GC, Young IS, Hughes AE, Patterson CC, O'Reilly D, McGibbon D, Chakravarthy U.

    Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4712-6.PMID: 16303969 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine.

    Logan JF, Chakravarthy U, Hughes AE, Patterson CC, Jackson JA, Rankin SJ.

    Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3221-6.PMID: 16123422 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Lack of support for the presence of an osteoarthritis susceptibility locus on chromosome 6p.

    Meenagh GK, McGibbon D, Nixon J, Wright GD, Doherty M, Hughes AE.

    Arthritis Rheum. 2005 Jul;52(7):2040-3.PMID: 15986344 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Association study of detoxification genes in age related macular degeneration.

    Esfandiary H, Chakravarthy U, Patterson C, Young I, Hughes AE.

    Br J Ophthalmol. 2005 Apr;89(4):470-4.PMID: 15774926 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation.

    Sinnathuray AR, Toner JG, Clarke-Lyttle J, Geddis A, Patterson CC, Hughes AE.

    Otol Neurotol. 2004 Nov;25(6):935-42.PMID: 15547423 [PubMed - indexed for MEDLINE]Related articles

    20.

    Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.

    Sinnathuray AR, Toner JG, Geddis A, Clarke-Lyttle J, Patterson CC, Hughes AE.

    Otol Neurotol. 2004 Nov;25(6):930-4.PMID: 15547422 [PubMed - indexed for MEDLINE]Related articles

    21.

    Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

    Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G.

    Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6.PMID: 14638698 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.

    Williams CJ, Pendleton A, Bonavita G, Reginato AJ, Hughes AE, Peariso S, Doherty M, McCarty DJ, Ryan LM.

    Arthritis Rheum. 2003 Sep;48(9):2627-31.PMID: 13130483 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Porcine cytomegalovirus in pigs being bred for xenograft organs: progress towards control.

    Clark DA, Fryer JF, Tucker AW, McArdle PD, Hughes AE, Emery VC, Griffiths PD.

    Xenotransplantation. 2003 Mar;10(2):142-8.PMID: 12588647 [PubMed - indexed for MEDLINE]Related articles

    24.

    Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

    Percy MJ, Gillespie MJ, Savage G, Hughes AE, McMullin MF, Lappin TR.

    Blood. 2002 Nov 15;100(10):3447-9. Epub 2002 Jul 5.PMID: 12393396 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Reproductive counselling for women with myotonic dystrophy.

    Magee AC, Hughes AE, Kidd A, Lopez De Munain A, Cobo AM, Kelly K, Dean J, Nevin NC.

    J Med Genet. 2002 Mar;39(3):E15. No abstract available. PMID: 11897835 [PubMed - indexed for MEDLINE]Related articlesFree article

    27.

    A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locus.

    Lichanska AM, McGibbon D, Silvestri G, Hughes AE.

    Cytogenet Cell Genet. 2001;93(1-2):43-7.PMID: 11474177 [PubMed - indexed for MEDLINE]Related articles

    28.

    Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.

    McConnell RS, Rubinsztein DC, Fannin TF, McKinstry CS, Kelly B, Bailey IC, Hughes AE.

    J Med Genet. 2001 Apr;38(4):238-40. No abstract available. PMID: 11368027 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.

    Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS.

    Eur J Hum Genet. 2001 Mar;9(3):197-203.PMID: 11313759 [PubMed - indexed for MEDLINE]Related articlesFree article

    30.

    Sequence databases and the Internet.

    Hughes AE.

    Methods Mol Biol. 2001;167:215-23. Review. No abstract available. PMID: 11265317 [PubMed - indexed for MEDLINE]Related articles

    31.

    Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.

    Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH.

    Br J Dermatol. 2001 Jan;144(1):40-5.PMID: 11167681 [PubMed - indexed for MEDLINE]Related articles

    32.

    Selected abstracts.

    Corkery PP, Leek BF, Caulfield B, Garrett M, Gormley JP, O'Donnell PM, Kennedy N, Sayers K, Stokes E, Bresnihan B, Fitzgerald O, McGarvey MA, Tonra M, Hooper AC, Barry J, Maurer B, Hussey J, Gormley J, Noble JG, Alves-Guerreiro J, Lowe AS, Walsh DM, Nicniocaill B, Harte M, O'Connor WT, O'Hara AM, Orren A, Moran AP, Hardiman DA, Lee TC, Croke DT, Tolan R, McBennett S, Warmington S, McGuire M, Bradford A, O'Hare T, Macdermott M, Lynch F, O'Regan RG, McLoughlin P, Quinn T, Ryan JP, Pickering M, Campion DP, Jones JF, Ryan S, McNicholas WT, Nolan P, Doyle FJ, Rackard SM, Beddy P, Campbell VA, Bakhle YS, Bell C, Usher C, Chan L, Keenan AK, McQuaid KE, Cullen VC, Smith EM, Kelly A, Lynch MA, Freir DB, Holscher C, Herron CE, Pearson HA, Curran BP, O'Connor JJ, Quinn A, McHale J, Moriarty D, O'Connor J, Glennon JC, Van Vliet BJ, Long SK, Kruse C, Gallagher HC, Bacon CL, Boland B, Griffin AM, Preisler J, O'Brien L, Regan CM, Hurley S, Kearney PJ, Slevin J, Barry-Kinsella C, Ryan CA, Kllleen O, Glllan J, Clarke T, Matthews T, Corcoran D, Dunn E, Geary M, O'Herlihy C, Keane D, Slattery MM, O'Leary MJ, Morrison JJ, Ryan E, Gorman WA, Bourke A, Larkin J, Mayes C, Jenkins J, Ryan M, Lalchandani S, Sheil O, Lynch N, Costigan C, Murphy JF, Bhatia R, Foran A, Donohue V, McParland P, Lasjaunais P, Rodesch G, McGinn M, McAloon J, O'Leary M, Astbury K, Harmon D, Sharkey A, Gaffney G, O'Regan G, McMahon C, Murray D, McDermott C, Woolhead E, Gillan J, Cartmill JL, Harper MA, Al-Shabibi N, Hanahoe M, Wingfield M, Larkin JA, Bell AH, McClure BG, Sweeney L, Martin DH, O'Donoghue P, Davoren A, Lucas GF, McKiernan J, Gallagher DM, Dunne KP, Fulena O, Sheridan M, Griffin E, White M, Deasy P, O'Riordan M, O'Gorman C, Mongan C, McCafferkey M, Henry G, McKenna P, O'Malley A, Devaney D, Kelleghan P, Mooney EE, Gillan JE, Fitzpatrick M, McQuillan K, Heffron C, Hodnett P, Curtain A, O'Connor TC, Connell TG, Waldron D, Gorman W, Bolger T, O'Keefe M, Murphy J, Dolan LM, Traub AI, Slattery MM, O'Leary MJ, Curley AE, Halliday HL, Tubman TR, Kileen O, Riadha H, Russell J, Philips R, Regan C, Ali I, Coughlan AC, Turner MJ, Smith A, O'Flanagan D, Igoe D, Ryan F, Forde D, McArdle E, Ko D, Bedford D, Hegarty M, Dunlevy B, Corcoran R, Holohan T, Feeney A, McGee H, Shannon W, Condon M, Hyland C, Sayers G, Feely E, Crowley D, O'Reilly D, O'Connell T, Cronin M, Johnson H, Fitzgeraldi M, Cafferkey M, Breslin A, Bonner CJ, Foley B, Fitzgerald M, Wall PG, McNamara E, Costigan P, Prendergast T, Foye K, Cosgrove C, Keane A, Murphy E, O'Donnell J, Quinlan A, Thornton L, Roch EA, Lyons RA, Maddocks A, Barnes P, Price L, McCabe M, Nash P, Midha A, Doyle Y, Kilgallen A, Wright P, Ryan T, De La Harpe D, Harkins V, Brennan C, O'Connell V, Evans DS, Ni Mhuircheartaigh J, O'Donnell JM, Rhatigan A, Shelley E, Collins C, Byrne M, Murphy AW, Plunkett PK, Murray A, Bury G, Lynam F, McMahon G, Greally T, Kane D, Veale D, Reece R, Busteed S, Bennett MW, Stone M, Molloy C, O'Connell J, Molloy MG, Shanahan F, Guerin J, Casey E, Feighery C, Lin F, Jackson J, Pendleton A, Wright GD, Hughes AE, O'Gradaigh D, Debham I, Compston J, McEvoy A, Murphy EP, Salonen D, Payne P, Lax M, Lapp V, Inman R, O'Rourke K, Brennan D, Harty J, McCarthy C, O'Byrne J, Eustace S, Chirayath H, Liggett NW, Morgan MP, Fitzgerald DJ, McCarthy CJ, McCarthy GM, Lee RZ, Wai K, Nevin D, Leary AO, Lee R, Leary AO, Casey EB, Leary AO, O'Leary A, Breen D, Tuite D, McInerney D, Sim R, Frederic AL, Smith O, White B, Murphy M, Silke C, O'Keeffe E, Fanning N, Spence L, Parfrey NA, McConnell JR, Crockard AD, Cairns AP, Bell AL, Kavanagh O, Moyes DA, Finch M, Rooney M, Bell A, Founas I, El-Magbri A, Mooney S, Kennedy M, Coughlan RJ, Ramakrishnan SA, Gsel A, Finnerty O, Burns M, Yateman M, Camaco-Hubner C, Matthews CF, Taggart A, Fuller K, Murphy MS, Phelan M, Murphy TB, Wynne F, Quane K, Daly M, O'Leary J, da Silva I, Bermingham N, Gogarty M, Gallagher LP, O'Hara R, Godson C, Brady H, Osman H, El-Rafie A, Foley-Nolan D, Kirwan P, Corcoran O, Duffy T, Drummond F, Madigan A, Williams D, Gallagher P, Hatton C, Cunningham S, Fitzgerald O, Minnock P, Wylie E, Egan D, Mc Cormack J, Shea MO, Evans D, O'Lorcain P, Comber H, Evans A, Jones J, Garavan C, Kelleher K, Boland MC, Healy R, O'Sullivan MB, Burke M, Mc Donald P, Smithson R, Glass J, Mason CA, Mullins N, Nolan D, McCormick P, Coughlan S, Dooley S, Kelleher CC, Hope A, Murphy F, Barry M, Sixsmith J, Macfarlane A, Macleod C, McElroy G, O'Loan D, Kennedy F, Kerr RM, Lim J, Allwright SP, Bradley FL, Barry JM, Long J, Parry JV, Creagh D, Perry IJ, Collins A, Neilson S, Colwell N, O'Halloran D, O'Neill S, McErlain S, Okasha M, Gaffney B, McCarron P, Hinchion R, Drew C, Gavin A, Fitzpatrick D, Campbell R, Wannamethee SG, Shaper A, Friel S, Kelleher C, Kee F, Atterson CC, Wilson EA, McConnell JM, Wheeler SM, Watson JD, Norashikin Rahman N, Sheehan J, Wall C, Kelleher B, O'Broin SD, Mullan RN, McKeveney PJ, Hodges VM, Winter PC, Maxwell P, Simpson DA, Lappin TR, Maxwell AP, Eustace JA, Coresh J, Kutchey C, Te PL, Gimenez LF, Scheel PJ, Walser M, McMahon RA, Clarkson M, Martin F, Brady HR, Blake C, O'Meara YM, Gupta S, Mackenzie H, Doyle S, Fotheringham T, Haslam P, Logan MP, Conlon P, Lee M, Maderna P, Cottell DC, Mitchell S, Gulmann C, Osterby R, Bangstad HJ, Rljdberg S, Dempsey M, Nathwani S, Ryan MP, McMahon B, Stenson C, Murtagh H, Brown JH, Doran P, McGinty A, Little MA, O'Brien E, Owens P, Holian J, Mee F, Walshe JJ, Omer SA, Power D, Diamond P, Watson RW, Shahsafei A, Jiang T, Brenner BM, Mackenzie HS, Neary J, Dorman A, Keoghan M, Campbell E, Walshe J, Little M, Nee L, O'Ceallaigh C, McGlynn H, Bergin E, Garrett PJ, Keane T, Gormley G, Watson A, Atta MG, Perl TM, Song X, Healy E, Leonard M, Lynch J, Watson AJ, Lappin D, Lappin DW, Hannan K, Burne M, Daniels F, Rabb H, McBride B, Kieran N, Shortt C, Codd M, Murray F, McCormack A, Brown C, Wong C, Dorman AM, Keogan M, Donohue J, Farrell J, Donohoe J, O'Broin S, Balfe A, Mellotte GJ, Abraham KA, McGorrian C, Wood AE, Neligan M, Kelly BD, Finnegan P, Cormican M, Callaghan J, Crean JK, Moffitt TA, Devlin HL, Garrett PJ, Soosay A, O'Neill D, Counihan A, Hickey D, Keogan MT, Harvey K, O'Riordan E, Waldek S, Kalra PA, O'Donoghue DJ, Foley RN, O'Riordan A, Kelliher D, Mellotte G, Giblin L, Keogh JA, O'Connell M, O'Meara A, Breatnach F, Gillick J, Tazawa H, Puri P, Molloy E, O'Neill AJ, Sheridan-Pereira M, Fitzpatrick JM, Webb DW, Watson RW, Linnane B, O'Donnell C, Clarke TA, Martin C, McKay M, McBrien J, Glynn F, O'Donovan C, Hall WW, Smith J, Khair K, Liesner R, Hann IM, Smith OP, Gallagher S, Mahony MJ, Hilal A, Cosgrove JF, Monaghan C, Craig B, Al-Hassan A, Walsh K, Duff D, Slizlok PO, Halahakoon C, Macpherson C, McMillan S, Dalzell EE, McCaughan J, Redmond AO, Decaluwe D, Yoneda A, Akl U, Dempsey E, Farrell M, Webb D, Elabbas A, Fox G, Gormally S, Grant B, Corkey CW, Nicholson A, Murphy A, O'Grady P, Barry O, Macpherson C, Stewart MC, Alderdice F, Matthews TG, McDonnell M, McGarvey C, O'Regan M, Ní Chróinín M, Tormey P, Ennis S, Green AJ, Abbas S, O'Marcaigh A, Conran M, Crushell E, Saidi A, Curran P, Donoghue V, King MD, Elnazir B, Leonard J, Kavanagh C, Brown D, Corrigan N, McCord B, Quinn M, O'Connell L, McDonagh B, Awan A, Gill D, Kakkar R, Sweet DG, Warner JA, O'Connor C, Herzig M, Twomey A, White MJ, Sweeney B, Surana R, Hodgson A, Rafferty M, Livingstone W, Peake D, Wassemer E, Whitehouse W, Abdullah N, Al-Hassan A, Oslizlok P, O'Connell N, Balding J, Livingstone WJ, Healy M, Mynett-Johnson L, McAllister I, Dick AC, Herron B, Boston VE, Callaghan CO, Brien DO, Walsh A, Philip M, McShane D, Hoey MC, Sharif F, McDermott M, Dillon M, Drumm B, Rowland M, Imrie C, Kelleher S, Bourke B, Iqbal M, Ziedan Y, O'Neill M, O'Riordan S, Basheer SM, O'Callaghan S, Chong A, Kelly M, Nicholson AJ, Cooke R, Sreenan C, Fallon M, Denham B, Dowding V, Cussen G, McManus V, Hensey O, Monaghan H, Basheer SN, Quinn E, Hoey HM, Mohamed S, Ramesh RR, Mayne P, Tracy E, Gormally SM, Curtis E, McCallion N, Watson R, O'Mahony O, Keegan M, Ward K, Barton D, Poulton J, Treacy E, Honour J, Decaluwe D, Ni Chróinín M, Cosgrove J, Chaudhry TS, Long NM, Lynch B, Lasjaunais P, McDonald DG, McMenamin JB, Farrell MJ, Roche EF, Menon A, Buckley C, Mackey A, Ohlandieck K, Das A, Reilly D, Killeen O, Harper J, Roche E, Hoey H, Caird J, O'Brien D, Allcutt D, Farrington N, Murphy JF, Savage JM, Sands AJ, Casey FA, Craig BG, Dornan JC, Johnston J, Patterson C, Lynch C, Mulholland HC, Watkins DC, Young I, Cran G, Boreham CA, McCallion WA, Clements NF, Stevenson MR, Macpherson C, O'Donoghue D, Jenkins L, Thompson AJ, Shields MD, Taylor RT, Kerr R, Hughes JL, Stewart M, Jackson P, Fitzpatrick C, Rasheed M, Colhoun E, Bailie AG, Gray S, Brown S, Curley A, Sweet DG, Macmahon KJ, O'Connor CM, Nichelson A, Lynch NE, Finch D, Foley M, Scallan E, Dillon B, Lyons S, O'Loughlin R, Ward M, Nally R, Harkin A, Kelly JP, Leonard BE, Nic Niocaill B, Magee P, Connor TJ, Shen Y, McCullough GR, McDonough SM, Nic Niocaill B, Cramp AF, Hynes M, Corkery P, Carey M, McGarrigle D, Higgins S, Murray H, Moran CJ, Dennedy MC, Brosnan J, Morris L, Sheppard BL, Black A, Wilkins B, Folan-Curran J, Skelton K, Owens M, Nemeroff C, Houlihan D, O'Keeffe C, Nolan N, McCormick PA, Baird AW, Raducan I, Corcoran P, Brennan R, Molloy P, Friel A, Maher M, Glennon M, Smith T, Nolan A, Houghton JA, Carroll O, Colleran S, O'Cuinn G, Snow HM, O'Regan D, Markos HF, Pollock K, Cannon DM, McBean G, O'Riordan A, Quinlan LR, Kane MT, Higglns BD, Moriarty DM, Fitzgerald D, Katkada A, Canny G, Macmathuna P, O'Donoghue D, O'Donovan MM, Schuur AG, Murphy KJ, Foley AG, Ten Bruggencate SJ, Ireland L.

    Ir J Med Sci. 2000 Oct;169(4):272-368. No abstract available. PMID: 19921323 [PubMed - as supplied by publisher]

    33.

    Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

    Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM.

    Nat Genet. 2000 Jan;24(1):45-8.PMID: 10615125 [PubMed - indexed for MEDLINE]Related articles

    34.

    A case-control study of candidate vasoactive mediator genes in primary Raynaud's phenomenon.

    Smyth AE, Hughes AE, Bruce IN, Bell AL.

    Rheumatology (Oxford). 1999 Nov;38(11):1094-8.PMID: 10556261 [PubMed - indexed for MEDLINE]Related articlesFree article

    35.

    Genotyping and functional analysis of a polymorphic (CCTTT)(n) repeat of NOS2A in diabetic retinopathy.

    Warpeha KM, Xu W, Liu L, Charles IG, Patterson CC, Ah-Fat F, Harding S, Hart PM, Chakravarthy U, Hughes AE.

    FASEB J. 1999 Oct;13(13):1825-32.PMID: 10506586 [PubMed - indexed for MEDLINE]Related articlesFree article

    36.

    Dinucleotide repeat polymorphisms in EDN1 and NOS3 are not associated with severe diabetic retinopathy in type 1 or type 2 diabetes.

    Warpeha KM, Ah-Fat F, Harding S, Patterson CC, Xu W, Hart PM, Chakravarthy U, Hughes AE.

    Eye (Lond). 1999 Apr;13 ( Pt 2):174-8.PMID: 10450377 [PubMed - indexed for MEDLINE]Related articles

    37.

    Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families.

    Savage JM, Jefferson JA, Maxwell AP, Hughes AE, Shanks JH, Gill D.

    Arch Dis Child. 1999 May;80(5):466-9.PMID: 10208956 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Evidence for a second genetic locus in Carney complex.

    Irvine AD, Armstrong DK, Bingham EA, Hadden DR, Nevin NC, Hughes AE.

    Br J Dermatol. 1998 Oct;139(4):572-6.PMID: 9892898 [PubMed - indexed for MEDLINE]Related articles

    39.

    Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

    Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE.

    Hum Mol Genet. 1999 Jan;8(1):143-8. Erratum in: Hum Mol Genet 1999 May;8(5):943. PMID: 9887343 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Segregation distortion in myotonic dystrophy.

    Magee AC, Hughes AE.

    J Med Genet. 1998 Dec;35(12):1045-6.PMID: 9863607 [PubMed - indexed for MEDLINE]Related articlesFree article

    41.

    A novel insertional mutation in loricrin in Vohwinkel's Keratoderma.

    Armstrong DK, McKenna KE, Hughes AE.

    J Invest Dermatol. 1998 Oct;111(4):702-4.PMID: 9764857 [PubMed - indexed for MEDLINE]Related articles

    42.

    Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

    Hughes AE, Lotery AJ, Silvestri G.

    J Med Genet. 1998 Sep;35(9):770-2.PMID: 9733038 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Erythrocytosis due to a mutation in the erythropoietin receptor gene.

    Percy MJ, McMullin MF, Roques AW, Westwood NB, Acharya J, Hughes AE, Lappin TR, Pearson TC.

    Br J Haematol. 1998 Feb;100(2):407-10.PMID: 9488636 [PubMed - indexed for MEDLINE]Related articles

    44.

    A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

    Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE.

    J Invest Dermatol. 1997 Dec;109(6):815-6.PMID: 9406827 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

    Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.

    Nephrol Dial Transplant. 1997 Aug;12(8):1595-9.PMID: 9269635 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease.

    Browne G, Jefferson JA, Wright GD, Hughes AE, Doherty CC, Nevin NC, Keogh JA.

    Nephrol Dial Transplant. 1997 Jun;12(6):1132-6.PMID: 9198040 [PubMed - indexed for MEDLINE]Related articlesFree article

    47.

    A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

    Irvine AD, McKenna KE, Jenkinson H, Hughes AE.

    J Invest Dermatol. 1997 May;108(5):809-10.PMID: 9129237 [PubMed - indexed for MEDLINE]Related articles

    48.

    A molecular variant of angiotensinogen is associated with diabetic nephropathy in IDDM.

    Fogarty DG, Harron JC, Hughes AE, Nevin NC, Doherty CC, Maxwell AP.

    Diabetes. 1996 Sep;45(9):1204-8.PMID: 8772723 [PubMed - indexed for MEDLINE]Related articles

    49.

    Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.

    Lotery AJ, Ennis KT, Silvestri G, Nicholl S, McGibbon D, Collins AD, Hughes AE.

    Hum Mol Genet. 1996 May;5(5):705-8.PMID: 8733141 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Association of two loci on chromosome 2q with nodal osteoarthritis.

    Wright GD, Hughes AE, Regan M, Doherty M.

    Ann Rheum Dis. 1996 May;55(5):317-9.PMID: 8660106 [PubMed - indexed for MEDLINE]Related articlesFree article

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