S02. The Next Step in Cardiac Genetics: Targeted gene panels and next generation sequencing in inherited cardiac conditions

Autor: Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, Magalhães, TR

Publikováno v: The Ulster Medical Journal

Aims The Irish DNA Atlas is a DNA collection being assembled with the aim of describing the fine-scale population structure in Ireland. Understanding such structure can inform on optimal design of clinical genetic studies as well as the history of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::8954599fc3cb5de9d5f4819409a3d6a4
http://europepmc.org/articles/PMC4642251

New candidate genes for X-linked recessive hypoparathyroidism

Autor: Mumm, S, Zhang, X, Nesbit, MA, Mazzarella, R, Schlessinger, D, Thakker, RV, Chen, E, Parvari, R, Whyte, MP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::74a5dcd64bf1d69d407988b3b1a98289
https://ora.ox.ac.uk/objects/uuid:507705b9-be24-41a1-b207-ad59a4fd5030

Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome

Autor: Zahirieh, A, Nesbit, MA, Ali, A, Wang, K, He, N, Stangou, M, Bamichas, G, Sombolos, K, Thakker, RV, Pei, Y

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. This dual zinc finger transcription factor binds DNA wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dcb1958a27346b906f40db1c5f36291a
https://doi.org/10.1210/jc.2004-1969

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family with Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Autor: Piret, SE, Gorvin, CM, Pagnamenta, AT, Howles, SA, Cranston, T, Rust, N, Nesbit, MA, Glaser, B, Taylor, JC, Buchs, AE, Hannan, F, Thakker, RV

Publikováno v: Journal of Bone and Mineral Research

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is genetically heterogeneous with ADH type 1 (ADH1), the predominant form, being caused by ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::16f85bc76bd4f7b664517592bf3e34ed
http://livrepository.liverpool.ac.uk/2050820/1/Piret_et_al-2016-Journal_of_Bone_and_Mineral_Research.pdf

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.