Zobrazeno 1 - 10
of 1 131
pro vyhledávání: '"Roden DM"'
Autor:
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia
Publikováno v:
GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
Autor:
Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M
Publikováno v:
Lancet Respiratory medicine
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
Background Raregenetic variantscause pulmonary arterial hypertension, but the contribution of commongenetic variationto disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertensio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ae9607d585d112e007c7f8cea64b0b66
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf
Autor:
Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Walter, RE, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Walsworth, AK, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Knight, J, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, Hanscombe, KB, US PAH Biobank Consortium, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RVM, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z
Background Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hyperte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::a297be26162c381f7f07b964781cbe3f
http://hdl.handle.net/10044/1/65072
http://hdl.handle.net/10044/1/65072
Autor:
Relling, MV, Krauss, RM, Roden, DM, Klein, TE, Fowler, DM, Terada, N, Lin, L, Riel-Mehan, M, Do, TP, Kubo, M, Yee, SW, Johnson, GT, Giacomini, KM
Publikováno v:
Clinical pharmacology and therapeutics, vol 102, iss 6
The goal of pharmacogenomics research is to discover genetic polymorphisms that underlie variation in drug response. Increasingly, pharmacogenomics research involves large numbers of patients and the application of new technologies and methodologies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::efde5210c44066781cc205ccaa4446e2
https://escholarship.org/uc/item/78p807fd
https://escholarship.org/uc/item/78p807fd
Autor:
Roden DM (AUTHOR)
Publikováno v:
Journal of Cardiovascular Electrophysiology. Dec2003, Vol. 14 Issue 12, p1389-1396. 8p.
Autor:
Goswami, S, Yee, SW, Stocker, S, Mosley, JD, Kubo, M, Castro, R, Mefford, JA, Wen, C, Liang, X, Witte, J, Brett, C, Maeda, S, Simpson, MD, Hedderson, MM, Davis, RL, Roden, DM, Giacomini, KM, Savic, RM
Publikováno v:
Clinical Pharmacology and Therapeutics, vol 96, iss 5
Goswami, S; Yee, SW; Stocker, S; Mosley, JD; Kubo, M; Castro, R; et al.(2014). Erratum: Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin (Clinical Pharmacology and Therapeutics (2014) 96:3 (370-379) DOI:10.1038/clpt.2014.109). Clinical Pharmacology and Therapeutics, 96(5), 626. doi: 10.1038/clpt.2014.109. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/13q3091f
Goswami, S; Yee, SW; Stocker, S; Mosley, JD; Kubo, M; Castro, R; et al.(2014). Erratum: Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin (Clinical Pharmacology and Therapeutics (2014) 96:3 (370-379) DOI:10.1038/clpt.2014.109). Clinical Pharmacology and Therapeutics, 96(5), 626. doi: 10.1038/clpt.2014.109. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/13q3091f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::357863c1f89849ed8325bee73d564d47
https://escholarship.org/uc/item/13q3091f
https://escholarship.org/uc/item/13q3091f
Autor:
Drew, BJ, Ackerman, MJ, Funk, M, Gibler, WB, Kligfield, P, Menon, V, Philippides, GJ, Roden, DM, Zareba, W, American Heart Association Acute Cardiac Care Committee of the Council on Clinical Cardiology, Council on Cardiovascular Nursing, American College of Cardiology Foundation
Publikováno v:
Journal of the American College of Cardiology, vol 55, iss 9
Drew, BJ; Ackerman, MJ; Funk, M; Gibler, WB; Kligfield, P; Menon, V; et al.(2010). Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation.. Journal of the American College of Cardiology, 55(9), 934-947. doi: 10.1016/j.jacc.2010.01.001. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/65h088d5
Drew, BJ; Ackerman, MJ; Funk, M; Gibler, WB; Kligfield, P; Menon, V; et al.(2010). Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation.. Journal of the American College of Cardiology, 55(9), 934-947. doi: 10.1016/j.jacc.2010.01.001. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/65h088d5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4fb483dcc69e1d6473f11a17531fb078
https://escholarship.org/uc/item/65h088d5
https://escholarship.org/uc/item/65h088d5
Autor:
Zipes, Dp, Camm, Aj, Borggrefe, M, Buxton, Ae, Chaitman, B, Fromer, M, Gregoratos, G, Klein, G, Moss, Aj, Myerburg, Rj, Priori, Sg, Quinones, Ma, Roden, Dm, Silka, Mj, Tracy, C, SMITH SC JR, Jacobs, Ak, Adams, Cd, Antman, Em, Anderson, Jl, Hunt, Sa, Halperin, Jl, Nishimura, R, Ornato, Jp, Page, Rl, Riegel, B, Blanc, Jj, Budaj, A, Dean, V, Deckers, Jw, Despres, C, Dickstein, K, Lekakis, J, Mcgregor, K, Metra, Marco, Morais, J, Osterspey, A, Tamargo, Jl, Zamorano, Jl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::9a5bc8479d0171a4e5c3b048c535c2d7
http://hdl.handle.net/11379/22897
http://hdl.handle.net/11379/22897
Autor:
Zipes, Dp, Camm, Aj, Borggrefe, M, Buxton, Ae, Chaitman, B, Fromer, M, Gregoratos, G, Klein, G, Moss, Aj, Myerburg, Rj, Priori, Sg, Quinones, Ma, Roden, Dm, Silka, Mj, Tracy, C, Blanc, Jj, Budaj, A, Dean, V, Deckers, Jw, Despres, C, Dickstein, K, Lekakis, J, Mcgregor, K, Metra, Marco, Morais, J, Osterspey, A, Tamargo, Jl, Zamorano, Jl, SMITH SC JR, Jacobs, Ak, Adams, Cd, Antman, Em, Anderson, Jl, Hunt, Sa, Halperin, Jl, Nishimura, R, Ornato, Jp, Page, Rl, Riegel, B.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::d652a26e68d701f22473b814827370a6
http://hdl.handle.net/11379/22763
http://hdl.handle.net/11379/22763
Autor:
Zipes, Dp, Camm, Aj, Borggrefe, M, Buxton, Ae, Chaitman, B, Fromer, M, Gregoratos, G, Klein, G, Moss, Aj, Myerburg, Rj, Priori, Sg, Quinones, Ma, Roden, Dm, Silka, Mj, Tracy, C, Blanc, Jj, Budaj, A, Dean, V, Deckers, Jw, Despres, C, Dickstein, K, Lekakis, J, Mcgregor, K, Metra, Marco, Morais, J, Osterspey, A, Tamargo, Jl, Zamorano, Jl, SMITH SC JR, Jacobs, Ak, Adams, Cd, Antman, Em, Anderson, Jl, Hunt, Sa, Halperin, Jl, Nishimura, R, Ornato, Jp, Page, Rl, Riegel, B.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::f180887741a7d9839d7f75bc2c0de783
http://hdl.handle.net/11379/22762
http://hdl.handle.net/11379/22762