Zobrazeno 1 - 10
of 1 266
pro vyhledávání: '"Gibbons, RJ"'
Autor:
Truch, J, Downes, DJ, Scott, C, Gür, ER, Telenius, JM, Repapi, E, Schwessinger, R, Gosden, M, Brown, JM, Taylor, S, Cheong, PL, Hughes, JR, Higgs, DR, Gibbons, RJ
Publikováno v:
Nature Communications. 13
The chromatin remodeller ATRX interacts with the histone chaperone DAXX to deposit the histone variant H3.3 at sites of nucleosome turnover. ATRX is known to bind repetitive, heterochromatic regions of the genome including telomeres, ribosomal DNA an
Autor:
Cleaver, RJ, Berg, J, Craft, E, Foster, A, Gibbons, RJ, Hobson, E, Lachlan, K, Naik, S, Sampson, JR, Sharif, S, Smithson, S, Study, Deciphering Developmental Disorders, Parker, MJ, Tatton-Brown, K
Publikováno v:
American Journal of Medical Genetics Part A. 179:344-349
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated i
Autor:
Thygesen, K, Alpert, Js, Jaffe, As, Simoons, Ml, Chaitman, Br, White, Hd, the Writing Group on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction, Authors/Task Force Members Chairpersons, Biomarker, Subcommittee, Katus, Ha, Apple, Fs, Lindahl, B, Morrow, Da, Ecg, Subcommittee, Clemmensen, Pm, Johanson, P, Hod, H, Imaging, Subcommittee, Underwood, R, Bax, Jj, Bonow, Ro, Pinto, F, Gibbons, Rj, Classification, Subcommittee, Fox, Ka, Atar, D, Newby, Lk, Galvani, M, Hamm, Cw, Intervention, Subcommittee, Uretsky, Bf, Gabriel Steg, P, Wijns, W, Bassand, Jp, Menasché, P, Ravkilde, J, Trials, Registries, Subcommittee, Ohman, Em, Antman, Em, Wallentin, Lc, Armstrong, Pw, Heart Failure Subcommittee, Januzzi, Jl, Nieminen, Ms, Gheorghiade, M, Filippatos, G, Epidemiology, Subcommittee, Luepker, Rv, Fortmann, Sp, Rosamond, Wd, Levy, D, Wood, D, Global Perspective Subcommittee, Smith, Sc, Hu, D, Lopez Sendon JL, Robertson, Rm, Weaver, D, Tendera, M, Bove, Aa, Parkhomenko, An, Vasilieva, Ej, Mendis, S, ESC Committee for Practice Guidelines, Baumgartner, H, Ceconi, Claudio, Dean, V, Deaton, C, Fagard, R, Funck Brentano, C, Hasdai, D, Hoes, A, Kirchhof, P, Knuuti, J, Kolh, P, Mcdonagh, T, Moulin, C, Popescu, Ba, Reiner, Z, Sechtem, U, Sirnes, Pa, Torbicki, A, Vahanian, A, Windecker, S, Document, Reviewers, Morais, J, Aguiar, C, Almahmeed, W, Arnar, Do, Barili, F, Bloch, Kd, Bolger, Af, Bøtker, He, Bozkurt, B, Bugiardini, R, Cannon, C, de Lemos, J, Eberli, Fr, Escobar, E, Hlatky, M, James, S, Kern, Kb, Moliterno, Dj, Mueller, C, Neskovic, An, Pieske, Bm, Schulman, Sp, Storey, Rf, Taubert, Ka, Vranckx, P, Wagner, D. R.
Publikováno v:
Thygesen, K, Albert, J, Jaffe, A, Simoons, M L, Chaitman, B R & White, H D 2012, ' Third Universal Definition of Myocardial Infarction ', Global Heart, vol. 7, no. 4, pp. 275-295 . https://doi.org/10.1016/j.gheart.2012.08.001
Journal of the American College of Cardiology, 60(16), 1581-1598. Elsevier Inc.
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Alpert, J S, White, H D, Jaffe, A S, Katus, H A, Apple, F S, Lindahl, B, Morrow, D A, Chaitman, B R, Clemmensen, P, Johanson, P, Hod, H, Underwood, R, Bax, J J, Bonow, J J, Pinto, F, Gibbons, R J, Fox, K A, Atar, D, Newby, L K, Galvani, M, Hamm, C W, Uretsky, B F, Steg, P G, Wijns, W, Bassand, J-P, Menasche, P, Ravkilde, J, Ohman, E M, Antman, E M, Wallentin, L C, Armstrong, P W, Simoons, M L, Januzzi, J L, Nieminen, M S, Gheorghiade, M, Filippatos, G, Luepker, R V, Fortmann, S P, Rosamond, W D, Levy, D, Wood, D, Smith, S C, Hu, D, Botker, H E & Joint ESC/ACCF/AHA/WHF Task Force for Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Journal of the American College of Cardiology, vol. 60, no. 16, pp. 1581-98 . https://doi.org/10.1016/j.jacc.2012.08.001
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Katus, H A, Lindahl, B, Morrow, D A, Clemmensen, P, Johanson, P, Hod, H, Underwood, R, Bax, J J, Bonow, R O, Pinto, F, Gibbons, R J, Fox, K A, Atar, D, Newby, L K, Galvani, M, Hamm, C W, Uretsky, B F, Steg, P G, Wijns, W, Bassand, J-P, Menasché, P, Ravkilde, J, Ohman, E M, Antman, E M, Wallentin, L C, Armstrong, P W, Simoons, M L, Januzzi, J L, Nieminen, M S, Gheorghiade, M, Filippatos, G, Luepker, R V, Fortmann, S P, Rosamond, W D, Levy, D, Wood, D, Smith, S C, Hu, D, Lopez-Sendon, J-L, Robertson, R M, Weaver, D, Tendera, M, Bove, A A, Parkhomenko, A N & Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Circulation, vol. 126, no. 16, pp. 2020-35 . https://doi.org/10.1161/CIR.0b013e31826e1058
Nature Reviews Cardiology, 9(11), 620-633. Nature Publishing Group
Global Heart; Vol 7, No 4 (2012); 275-295
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D & Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial 2012, ' Third universal definition of myocardial infarction ', European Heart Journal, vol. 33, no. 20, pp. 2551-67 . https://doi.org/10.1093/eurheartj/ehs184
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D & Writing Group on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Global Heart, vol. 7, no. 4, pp. 275-95 . https://doi.org/10.1016/j.gheart.2012.08.001
Circulation, 126(16), 2020
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Task Force for the Universal Definition of Myocardial Infarction & Ravkilde, J 2012, ' Third universal definition of myocardial infarction ', Nature Reviews. Cardiology, vol. 9, no. 11, pp. 620-33 . https://doi.org/10.1038/nrcardio.2012.122
Journal of the American College of Cardiology, 60(16), 1581-1598. Elsevier Inc.
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Alpert, J S, White, H D, Jaffe, A S, Katus, H A, Apple, F S, Lindahl, B, Morrow, D A, Chaitman, B R, Clemmensen, P, Johanson, P, Hod, H, Underwood, R, Bax, J J, Bonow, J J, Pinto, F, Gibbons, R J, Fox, K A, Atar, D, Newby, L K, Galvani, M, Hamm, C W, Uretsky, B F, Steg, P G, Wijns, W, Bassand, J-P, Menasche, P, Ravkilde, J, Ohman, E M, Antman, E M, Wallentin, L C, Armstrong, P W, Simoons, M L, Januzzi, J L, Nieminen, M S, Gheorghiade, M, Filippatos, G, Luepker, R V, Fortmann, S P, Rosamond, W D, Levy, D, Wood, D, Smith, S C, Hu, D, Botker, H E & Joint ESC/ACCF/AHA/WHF Task Force for Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Journal of the American College of Cardiology, vol. 60, no. 16, pp. 1581-98 . https://doi.org/10.1016/j.jacc.2012.08.001
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Katus, H A, Lindahl, B, Morrow, D A, Clemmensen, P, Johanson, P, Hod, H, Underwood, R, Bax, J J, Bonow, R O, Pinto, F, Gibbons, R J, Fox, K A, Atar, D, Newby, L K, Galvani, M, Hamm, C W, Uretsky, B F, Steg, P G, Wijns, W, Bassand, J-P, Menasché, P, Ravkilde, J, Ohman, E M, Antman, E M, Wallentin, L C, Armstrong, P W, Simoons, M L, Januzzi, J L, Nieminen, M S, Gheorghiade, M, Filippatos, G, Luepker, R V, Fortmann, S P, Rosamond, W D, Levy, D, Wood, D, Smith, S C, Hu, D, Lopez-Sendon, J-L, Robertson, R M, Weaver, D, Tendera, M, Bove, A A, Parkhomenko, A N & Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Circulation, vol. 126, no. 16, pp. 2020-35 . https://doi.org/10.1161/CIR.0b013e31826e1058
Nature Reviews Cardiology, 9(11), 620-633. Nature Publishing Group
Global Heart; Vol 7, No 4 (2012); 275-295
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D & Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial 2012, ' Third universal definition of myocardial infarction ', European Heart Journal, vol. 33, no. 20, pp. 2551-67 . https://doi.org/10.1093/eurheartj/ehs184
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D & Writing Group on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction 2012, ' Third universal definition of myocardial infarction ', Global Heart, vol. 7, no. 4, pp. 275-95 . https://doi.org/10.1016/j.gheart.2012.08.001
Circulation, 126(16), 2020
Thygesen, K, Alpert, J S, Jaffe, A S, Simoons, M L, Chaitman, B R, White, H D, Task Force for the Universal Definition of Myocardial Infarction & Ravkilde, J 2012, ' Third universal definition of myocardial infarction ', Nature Reviews. Cardiology, vol. 9, no. 11, pp. 620-33 . https://doi.org/10.1038/nrcardio.2012.122
ACCF : American College of Cardiology Foundation ACS : acute coronary syndrome AHA : American Heart Association CAD : coronary artery disease CABG : coronary artery bypass grafting CKMB : creatine kinase MB isoform cTn : cardiac troponin CT : compute
Publikováno v:
Università degli studi di Firenze-IRIS
Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7df72e48fcb20babb3ea02019b228c77
https://ora.ox.ac.uk/objects/uuid:5562b7d8-def2-452e-8dba-7f3e0505fe08
https://ora.ox.ac.uk/objects/uuid:5562b7d8-def2-452e-8dba-7f3e0505fe08
Autor:
Gibbons, Rj, Garrick, D., James Sharpe, Wood, Wg, Picketts, Dj, Smiths, Ajh, Dobie, L., Higgs, Dr
Publikováno v:
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2152b75bfb28f388c903e300286d8245
https://ora.ox.ac.uk/objects/uuid:64a9c1a3-1f84-4c4e-80af-876f33175427
https://ora.ox.ac.uk/objects/uuid:64a9c1a3-1f84-4c4e-80af-876f33175427
Over the past three decades, a vast amount of new information has been uncovered describing how the globin genes are regulated. This knowledge has provided significant insights into the general understanding of the regulation of human genes. It is no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ce6224500cfeba359ae8d481fa960fe8
https://doi.org/10.1111/nyas.12988
https://doi.org/10.1111/nyas.12988
Autor:
Wolf Minotti, Federica, Qiao, Y, Mondal, K, Trapani, Valentina, Wen, J, Carpenter, G, Wildin, R, Price, Em, Gibbons, Rj, Eichmeyer, J, Jiang, R, Dupont, B, Martell, S, Lewis, Sm, Robinson, Wp, O'Driscoll, M, Wolf, Fi, Zwick, Me, Rajcan Separovic, E.
A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified using a chromosome X-specific microarray and exome sequencing in a family with five males demonstrating intellectual disability (ID) and u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5f7f82dc7cc18e6766d4cadc8ed234
http://hdl.handle.net/10807/56465
http://hdl.handle.net/10807/56465