S02. Capturing Irish Rare Disease activity, a must for improved cross border care and research

Autor: Coleman, A, McKinley, F, Gough, A, Wheatley, N, Xu, H, McKnight, AJ, Lambert, DM, Lynch, SA, Marron, R, Gray, D, Treacy, EP, Moore, RS, McConnell, V, Kelly, D, Das, S, Moran, B, Han, K, Mulligan, N, Barrett, C, Buckley, PG, Mc Mahon, P, McCaffrey, J, Van Essen, HF, Connor, K, Ylstra, B, Lambrechts, D, Gallagher, WM, O’Connor, DP, Kelly, CM, Dockery, A, Carrigan, M, Malone, C, Keegan, D, Stevenson, K, Silvestri, J, Green, A, McCourt, J, Humphries, P, Kenna, PF, Farrar, GJ, Smyth, LJ, Neville, CE, McKay, GJ, Maxwell, AP, Woodside, JV, McLaughlin, RL, Schijven, D, van Rheenen, W, van Eijk, KR, O’Brien, M, Kahn, R, Ophoff, RA, Goris, A, Bradley, DG, Al-Chalabi, A, van den Berg, LH, Luykx, JJ, Hardiman, O, Veldink, JH, Mackin, SJ, O’Neill, K, Irwin, R, Walsh, CP, Xu, M, Stattin, EL, Shaw, G, Heinegård, D, Sullivan, G, Wilmut, I, Colman, A, Önnerfjord, P, Khabut, A, Aspberg, A, Dockery, P, Hardingham, T, Murphy, M, Barry, F, Gilbert, E, Carmi, S, Ennis, S, Wilson, J.F., Cavalleri, G.L., McNerlan, S, Scott, J, O’Neill, T, Jager, D, Eustace-Ryan, S, Ryan, F, Barton, D, O’Dwyer, V, Neylan, D, Chemaly, M, Peace, A, Gibson, M, Clauss, M, Watterson, S, Bjourson, T, McGilligan, V, McVeigh, UM, McVeigh, TP., Owens, P, Morris, D, Miller, N, Lowery, AJ, Kerin, MJ, Goodman, R, Thompson, PD, Wingfield, B, Lapsley, CR, McDowell, A, McLafferty, M, Coleman, S, McGinnity, M, O’Neill, SM, Bjourson, Tony, Murray, EK, Rodriguez, EP, Doherty, D, O’Halloran, E, Conroy, J, Novak, M, Mulholland, C, Gallagher, L, McCormack, M, Heavin, S, Doherty, CP, Zhu, X, Heinzen, E, Goldstein, DB, Costello, D, Delanty, N, Cavalleri, GL, Stapleton, CP, Connaughton, DM, Conlon, PJ., Parton, A, O’Kane, M, Elwood, J, Sunnotel, O, Stockdale, DJ, Bjourson, AJ, Bell, AF, Sinclair, M, Lynch, SM, Ward, M, McNulty, H, Horigan, G, Strain, JJ, Purvis, J, Tackett, M, McKenna, DJ, Baldemor, S, Yankova, E, Barnard, E, McCafferty, D, Martin, L, Fairley, D, O’Rourke, D, Catherwood, M, Patrick, S, Conway, C, Stead, LS, Wood, HM, Rabbitts, PH, Maloney, DM, Chadderton, N, Millington-Ward, S, Flynn, M, Whitton, L, Cosgrove, D, Morrison, C, Walters, J, Rujescu, D, Corvin, A, Donohoe, G, Clarkson, C, Harold, D, Kendall, K, Richards, A, Mantripragada, K, Owen, MJ, O’Donovan, MC., Hartmann, A, Konte, B, Gill, M, Rea, S, Morris, DW, Harrison, A, Pentieva, K, Ozaki, M, Parle-McDermott, A, Hanlon, KS, Palfi, A, Nesbitt, H, Byrne, NM, Ming, L, Worthington, J, Errington, RJ, Patterson, LH, Smith, PJ, McKeown, SR, O’Neill, KM, McKenna, MM, Irwin, RE, Caffrey, A, Walsh, CP., Benson, KA, Sweeney, Michael, hIcí, Brónagh o, Feder, Ania, Barton, David E., Casey, Jill, Lynch, SallyAnn, McQuaid, Shirley, McElhatton, N

Publikováno v: The Ulster Medical Journal

Behcet’s disease (BD) is a complex, multifactorial rare disease, which is poorly understood. Genetic and environmental factors contribute to BD, but the process of diagnosis is challenging with inconsistent clinical manifestations. A recent survey

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::5800786dca109e9ff53177ec13ca99fb
http://europepmc.org/articles/PMC5324189

S02. Pre-Implantation Genetic Diagnosis (PGD) in Ireland - from validation to introduction of a clinical service

Autor: Morrison, PJ, Campbell, E, Kennedy, F, Russell, A, Smithson, WH, Parsons, L, Liggan, B, Irwin, B, Delanty, N, Hunt, SJ, Craig, J, Morrow, J, Dineen, T, Zhang, X, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, Waterstone, J, Magee, AC, Stewart, FJ, Dabir, TA, McConachie, M, McCoubrey, A, McConnell, VPM, Stack, D, O'Meara, E, Phelan, S, McDonagh, N, Kelly, L, Sciot, R, Debiec-Rychter, M, Morris, T, Cochrane, D, Sorensen, P, O'Sullivan, MJ, O'Byrne, JJ, Sweeney, M, Donnelly, D, Lambert, D, Beattie, D, Gervin, C, Graham, CA, Barton, DE, Lynch, SA, Whelan, CD, Hibar, DP, Stein, JL, Speed, D, Sisodiya, S, Ohnson, M, Goldstein, D, Medland, SE, Ranke, B, Thompson, PM, Cavalleri, G, Coleman, C, Quinn, EM, Ryan, AW, Anney, RJL, Trimble, V, Morris, DW, Donohoe, G, Conroy, J, Trynka, G, Wijmenga, C, Ennis, S, McManus, R, O'Halloran, ET, Magalhaes, TR, Cole, A, Cox, S, Jeong, C, Witonsky, D, Robbins, P, Montgomery, H, Ota, M, Hanaoka, M, Droma, Y, Beall, CM, Rienzo, A Di, Casey, J, McGettigan, P, Crushell, E, Hughes, J, Smyth, LJ, Kilner, JK, Benson, KA, Maxwell, AP, McKnight, AJ, Donnelly, DE, Jeffers, L, Hampton, S, Baillie, N, Cooke, S, O'Connell, SM, McDonald, A, O'Toole, N, Bradfield, A, Bradley, M, Hattersley, A, Ellard, S, Proks, P, Mattis, KK, Ashcroft, F, O'Riordan, SMP, Coyle, D, McDermott, M, O'Sullivan, M, Roche, E, Quinn, F, Cody, D, MacMahon, JM, Morrissey, R, Green, A, Thompson, AR, Kulkarni, A, Marks, KJ, Snape, K, Taylor, R, Bradley, L, Ramachandrappa, S, Pinto, CF, Dabir, T, Logan, P, Liew, S., Znaczko, A, Ryan, H., McDevitt, T, Higgins, M, Crowley, A, Rogers, M, Geoghegan, S, Shorto, J, Ramsden, S, O'Riordan, MP, Moore, M, Murphy, M, Irvine, A, Znaczko, Anna, Wilson, A, Stewart, F, Cather, MH, Young, IS, Nicholls, DP, O'Kane, M, Sharpe, P, Hanna, E, Hart, PJ, Savage, N, Humphreys, MW, Shaw-Smith, C, Osio, D, Collinson, MN, McKee, S, McNerlan, S, McGorrian, C, Galvin, J, O'Byrne, J, Stewart, S, Heggarty, SV, Hegarty, SP, McConnell, V, Turner, J, Ward, A, Kelly, R, Joyce, C, ó hIcí, B, Meaney, K, Gibson, L, Kelly, PM, Costigan, C, Gul, R, Byrne, S, Hughes, L, Ozaki, M, O'Sullivan, F, Parle-McDermott, A, Heavin, SB, McCormack, M, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, S, Alarts, N, Legros, B, Radtke, R., Sisodiya, Depondt, C, Cavalleri, GL, Connolly, S, Heron, EA, Irvine, MAG, Hughes, AE, Darlow, JM, Darlay, R, Hunziker, M, Kutasy, B, Green, AJ, Cordell, H, Puri, P, Chand, S, McCaughan, JA, Shabir, S, Chan, W, Kilner, J, Borrows, R, Douglas, AP, O'Neill, T, Shepherd, C, Hardy, R, Kenny, Molloy, B, Freeley, M, Quinn, E, McGinn, R, Long, A, Gahan, JM, Connolly, E, Byrne, MM, Gray, SG, Murphy, RT, Gui, H, Heinzen, E, Goldstein, D B, Petrovski, S, O'Brien, TJ, Cherny, S, Sham, PC, Baum, L, Duffy, S, Catherwood, N, McVeigh, TP, Sweeney, KJ, Miller, N, Kerin, MJ, Weidhaas, JB

Publikováno v: The Ulster Medical Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::41723f4d3ce12001da7eef192b69d0ac
http://europepmc.org/articles/PMC4255841

S02. Determination of the contribution of H63D/H63D genotype to iron overload, and validation of a dual hybridisation probe assay for detecting HFE genes

Autor: Kelly, Johanna, Coen, Natasha, Barton, Lynn, O'Dwyer, Michael, Browne, Paul, Conneally, Eibhlin, Betts, David R., Nolan, Kathy, Dobson, Mark, Brady, Joanne, Brady, Christine, Barton, David, Foley, Patricia, Kelly, Rosemarie, de Leeuw, Nicole, Green, Andrew, Dash, DP, Church, J, Héon, E, Willoughby, CE, Anney, Richard, Clark, Graeme R, Muszynska, Dorota, Alexander, Sharon, Silvestri, Giuliana, Willoughby, Colin E, Simpson, David A, Casey, Jillian, Conroy, Judith, Regan, Regina, Shah, Naisha, Magelhaes, Tiago, Lynch, Sally Ann, Ennis, Sean, Dytko, Malgorzata, Byrne, Paula, Shah, N, Regan, R, Conroy, J, Magalhães, T, Casey, J, Anney, R, Green, A, Gallagher, L, Gill, M, Shields, DC, Vicente, A, Ennis, S, Hughes, Linda, Carroll, Nicola, Fiedler, Christian, Parle-McDermott, Anne, Donnelly, Deirdre E, Brown, Robin, Morrison, Patrick J, Vangjeli, C, Clarke, N, Quinn, U, Dicker, P, Tighe, O, Ho, C, O'Brien, E, Stanton, A, Malloy, MP, Pickard, BS, Goossens, D, Heyrman, L, Laenerts, AS, St Clair, D, Blackwood, DH, Muir, WJ, Del-Favero, J, Dabir, T, McKee, S, McCullough, S, Rauch, L, Smith, G, Magee, Alex, Rea, Gillian, Stewart, Fiona, Stewart, FJ, McCloskey, M, Wraith, JE, McArdle, Linda, Morris, Thomas, Betts, David R, Costigan, C, Foulds, N, Collins, A, Thuresson, AC, Anneren, Goran, Hedberg, Bengt-Ove, Fitzpatrick, DR, Sharkey, F.H, Lynch, SA, Perry, AS, Raheem, O, Kennedy, AM, Murphy, TM, Marignol, L, Sullivan, L, Loftus, B, Lynch, T, Lawler, M, McKee, Shane A, King, M, Quinn, Emma M, Furlong, Sarah, Gill, Michael, Corvin, Aiden P, Donohoe, Gary, Morris, Derek W, Bradley, Lisa, McCullough, Simon, McGrattan, Peter, McNerlan, Susan, Smith, Geoff, Humphreys, Mervyn, McConnell, Vivienne, Kissick, Niall, Gates, Amy S, Kenny, Elaine M, Cochrane, Lynne E, O'Dushlaine, Colm T, Kenny, EM, Gates, AS, Cochrane, LE, Corvin, AP, Morris, DW, McDevitt, Trudi, Higgins, Mary, Crowley, Anne, Cody, Nuala, Meany, Marie, de Baroid, Cliona, Adams, Maureen, Nolan, Carmel, Farrell, Michael, Berkeley, Eileen, Clarke, Roisin, Daly, Peter, Hegarty, KG, Daly, M, Chavrimootoo, S, Shanahan, F, Molloy, MG, Crawford, Hilda, Shepherd, Charles, McKee, Shane, Magee, Alex C, Sweeney, Michael, Baker, L, Graham, CA, Barton, DE, Breen, Claire J, O'hIci, Bronagh, Mullarkey, Marice, Carey, Aiveen, O'Shea, Rosie, Barton, David E., Malone, Fergal, Meaney, Karen, Barton, David E, Ryan, AW, Linehan, E, Turner, G, Gallagher, P, Irvine, A, Fitzgerald, O, Kirby, B, McManus, R, Kämäräinen, Outi, Patton, Simon, Elles, Rob, McLaughlin, Russell L, Cronin, Simon, Lynch, David S, Caulfield, Kim A, Bradley, Daniel G, Hardiman, Orla, Boilson, A, McMullin, MF, Catherwood, M, Staines, A, Ryan, J, Sweeney, MR

Publikováno v: The Ulster Medical Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::789908e5359ea44d4348727bc06faaac
http://europepmc.org/articles/PMC2939000

S1. A prospective study of referrals from the Irish Traveller community to the National Centre for Inherited Metabolic Disorders

Autor: Murphy, AM, Halling, C, Lynch, SA, Monavari, AA, Harty, S, Crushell, E, Treacy, EP, Crawford, H, McKee, SA, Chukwu, J, Taha, A, Stewart, Fiona J, Ryan, Anthony W, Hughes, David, Ryan, Thomas, McManus, Ross, Stoneking, Mark, Ó'Dúshláine, Colm, Dolan, Ciara, Stanton, Alice, Croke, David, Kalviainen, Reetta, Berkovic, Samuel, O'Brien, Terry, Sisodiya, Sanjay, Goldstein, David, Morris, Derek, Delanty, Norman, Cavalleri, Gianpiero, Gilks, William P., Allott, Emma, Donohoe, Gary, Waddington, John L., Gill, Michael, Corvin, Aiden P., Morris, Derek W., McGibbon, D, Benson, C, Meenagh, G, Wright, G, Doherty, M, Hughes, A, McErlean, Seona, Scott, Natalie, Worthington, Jenny, Brown, Gillian, Falchi, Adriana, Berrar, Daniel, Bjourson, Anthony J, McLellan, Andrew, Wynne, Freda, Ball, Melanie, Moore, Tom, Barton, David E., Hastings, Ros J., Berwouts, Sarah, Brady, Christine, Corbisier, Philippe, Corveleyn, Anniek, Elles, Rob, Fowler, Brian, Gancberg, David, Litynski, Piotr, Macek, Milan, Malburg, Ute, Matthijs, Gert, Morris, Michael, Mueller, Clemens, Nagels, Nick, Quellhorst-Pawley, Bettina, Stambergova, Alexandra, Vermeesch, Jan, Vickers, Kate, Dequeker, Elisabeth, Magee, Alex, Lynch, Sally Ann, Offiah, Amaka, Walsh, J, Lambert, D, Baldridge, DM, Morello, R, Eyre, D, Lee, B, Green, AJ, O'Brien, Kirsty, Parle-McDermott, Anne, Langseth, A, Doherty, E, Nestor, T, Lynch, T, Asmus, F, Mary, MD, Mankan, Arun Kumar, Daly, Jacqueline, Caraher, Emma, Kelleher, Dermot, Ó hIcí, Brónagh, Gould, Edith, Kenny, Elaine, Pinto, Carlos, Corvin, Aiden, Schouest, Katherine, Coghlan, Avril, Spillane, Charles, Dash, DP, George, s, Silvestri, G, Jackson, J, Frazer, D, Hughes, AE, Willoughby, C, Donnelly, Deirdre, McKee, Shane, Allott, Emma H., Mitchell, Kevin J., Skehan, EB, Abdulrahim, M, Parfrey, NP, Hand, CK, Colleran, G, Rowan, A, Miller, N, Sawyer, E, Curran, C, Kerin, M, Tomlinson, I, McKay, GJ, Orr, N, Chakravarthy, U, Fitzpatrick, Helen, Clarke, Gillian, Doherty, Aidan, Shepherd, CW, McKee, S, Morrison, PJ, Kelly, Johanna, Conneally, Eibhlin, Vandenburgh, Elizabeth, Meaney, Karen, Hegarty, KG, Daly, M, Shanahan, F, Molloy, MG, Laing, Mary E, Dicker, Patrick, Ho, Wen Lyn, Moloney, Fergal J, Murphy, Gillian M, Conlon, Peter, Whitehead, Alexander S, Shields, Denis C, O'Shea, Rosie, Treacy, Eileen, Murphy, Anne Marie, Lambert, Deborah, Carroll, N, Cahill, S, O'Brien, K, Scott, JM, Parle-McDermott, A, Dabir, Tabib, McCrossan, Brian, Sands, A, Sweeney, L, Magee, A, Graham, Alistair N, McDevitt, Trudi, King, Caitriona, Rogers, Melissa, Roring, Solvig, McQuaid, Shirley, Barton, David E, Smith, G, McManus, D, McConnell, V, Crowley, VEF, Lim, K, Darby, C, Collison, C, Balfe, A, Heggarty, S, Crowley, Vivion EF, Darby, Cindy, Whatley, Sharon, Badminton, Mike, Meng, W, Patterson, CC, Belton, C, Kamaruddin, MS, Horan, PG, Kee, F, McKeown, PP, Cassidy, F, Zhao, C, Badger, J, Delaney, C, Mooney, L, Roche, S, McKeon, P, Dobrin, SE, Butler, Aileen, McManus, David, Jones, June, Clarkson, Moya

Publikováno v: The Ulster Medical Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::645a5db7a6b8e925379cb5ebc471c6d0
http://europepmc.org/articles/PMC2397021