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

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

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

Autor: Nolden KA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Egner JM; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Collier JJ; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Russell OM; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Harwig MC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Widlansky ME; Department of Medicine, Division of Cardiovascular Medicine and Department of Pharmacology, Medical College of Wisconsin, Milwaukee, WI, USA., Sasorith S; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire and PhyMedExp, INSERM U1046, CNRS UMR 9214, Montpellier, France., Barbosa IA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK., Douglas AG; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK., Walker M; Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK., Morris AA; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Tan HJ; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Kurian MA; Developmental Neurosciences Department, Zayed Centre for Research into Rare Diseases in Children, University College London Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, London, UK., Gorman K; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mordekar S; Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, UK., Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London, UK., Samanta R; Department of Paediatric Neurology, University Hospitals Leicester NHS Trust, Leicester, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hill RB; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK monika.olahova@ncl.ac.uk.

Publikováno v: Life science alliance [Life Sci Alliance] 2022 Aug 01; Vol. 5 (12). Date of Electronic Publication: 2022 Aug 01.

QRICH1 mutations cause a chondrodysplasia with developmental delay.

Autor: Lui JC; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Jee YH; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Lee A; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Yue S; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Wagner J; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK., Vogt KS; Division of Endocrinology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland., Baron J; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Publikováno v: Clinical genetics [Clin Genet] 2019 Jan; Vol. 95 (1), pp. 160-164. Date of Electronic Publication: 2018 Oct 26.

Incidence of Fragile X syndrome in Ireland.

Autor: O'Byrne JJ; Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Crumlin, Dublin, Ireland., Sweeney M; Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Crumlin, Dublin, Ireland., Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland., Lambert DM; National Rare Diseases Office, Mater Misericordiae Hospital, Dublin, Ireland., Beattie ED; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland., Gervin CM; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland., Barton DE; Department of Clinical Genetics and University College Dublin School of Medicine and Medical Sciences, Our Lady's Children's Hospital Crumlin, Crumlin, Dublin, Ireland., Lynch SA; National Rare Diseases Office, Mater Misericordiae Hospital, Dublin, Ireland.; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Sciences, Belfield, Dublin, Ireland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 678-683. Date of Electronic Publication: 2017 Feb 03.