S02. TUMOUR RISKS AND GENOTYPE-PHENOTYPE ANALYSIS IN AN IRISH COHORT OF PATIENTS WITH GERMLINE MUTATIONS IN THE SUCCINATE DEHYDROGENASE SUBUNIT GENES SDHB, SDHC AND SDHD

Autor: Hynds, P, Coghlan, D, Purcell, C, Green, A, Ward, A, Lynch, SA, Hough, O, Duff, M, Cody, N, Carroll, C, Bradley, L, Green, Andrew, Lynch, Sally-Ann, Crushell, E, Byrne, N, Gorman, K, King, M, Irvine, A, Monavari, A, Knerr, I, Cotter, M, McConnell, V, Browne, F, Lambert, D, Turner, J, Casey, J, Doyle, S, Nesbitt, IM, Fitzgibbon, M, Pastores, G, Kirk, R, Treacy, EP, Benson, KA, Kennedy, C, Yachnin, K, Cavalleri, G L, Conlon, P, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Morris, Derek W, Kerin, Michael J, Irwin, R., Caffrey, A., McLaughlin, M., McNulty, H., Cassidy, T., Pentieva, K., Walsh, C., Minguzzi, S, MacCooey, A, Brosnan, J, Brosnan, M, Henry, M, Meleady, P, Parle-McDermott, A, Gilbert, EH, O’Reilly, S, Merrigan, M, McGettigan, D, Molloy, AM, Brody, LC, Bodmer, W, Hutnik, K, Ennis, S, Lawson, DJ, Wilson, JF, Cavalleri, GL, Flynn, M, Whitton, L, Gill, M, Corvin, A, Donohoe, G, Morrison, C, Morris, D, Stapleton, CP., Birdwell, KA., Mark, PB., Sanders, ML., Phelan, PJ., Maxwell, AP., McKnight, AJ., Kennedy, C., Jardine, A., Traynor, J.P, Chapman, F., Keating, B., Conlon, PJ., Cavalleri, GL., Gunne, EA, Lambert, DM, Martin, R, Donnelly, DE, Callaghan, MB, Morrison, PJ, McConville, DO, Archbold, GP, Lewis, A, Morrison, P J, Das, S., Kelly, D., Moran, B., Harold, E., Han, K., Mulligan, N., Barrett, C., Buckley, P.G., Mc Mahon, P., McCaffrey, J, Van Essen, H. F., Connor, K., Ylstra, B., Lambrechts, D., Gallagher, W.M., O’Connor, D.P., Kelly, C.M., O’Neill, T, Power, C, de Franco, E, Ellard, S, Antao, B, O’Connell, SM, Dabir, T, Heggarty, S, Dockery, A, Carrigan, M, Wynne, N, Keegan, D, Stevenson, K, Silvestri, G, McCourt, J, Humphries, P, Kenna, PF., Farrar, GJ, Agbahovbe, R, Cohen, ASA, Gibson, WT, Cole, AM, Bohlender, R., Hu, H, Heinrich, E, Ramirez, C, Yu, Y, Powell, F, Gaio, E, Villafuerte, F., Taylor, C, Huff, C, Simonson, T., Cavalleri, G., Scullion, C, Irwin, R, Thakur, A, Walsh, C, Shortall, C, Palfi, A, Chadderton, N, Kenna, PF, Boomkamp, S, Shen, S, Hardcastle, AJ, Maloney, DM, Millington-Ward, S, Mackin, S-J, Irwin, R E., O’Neill, KM., Pollin, G, Apostolova, G, Dechant, G, Mackin, SJ, O’Neill, K, Walsh, CP, Sohedein, MNA, Morris, DW, Chaudhry, M, Segurado, R, Shields, D, Wilson, AG, Watkin, R.L., Piskareva, O., Madden, S., Stallings, R., Kerrigan, S.W., O’Neill, K M., Thursby, SJ, Bertens, C, Masala, L, Loughery, J, McArt, D, Amenyah, S. D., McMahon, A., Deane, J., Ward, M., Strain, J.J., Horigan, G., Purvis, J., Lees-Murdock, D., Lynch, SM., Ward, M, McNulty, H, Horigan, G, Purvis, J, Tackett, M, McKenna, DJ., Angel, Z, Walsh, CP.

Publikováno v: The Ulster Medical Journal

Neurofibromatosis (NF1) affects 1/2500 people throughout the world. Children with NF1 require a multidisciplinary service ideally, delivered on a single site. NF1 is a very variable condition with children requiring the expertise of genetics, paediat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::fdf6c40aeeb2ef81cbaee6c14650e042
http://europepmc.org/articles/PMC5849961

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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

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