Zobrazeno 1 - 10
of 253
pro vyhledávání: '"A. Posafalvi"'
Autor:
Alimohamed, Mohamed Z., Johansson, Lennart F., Posafalvi, Anna, Boven, Ludolf G., van Dijk, Krista K., Walters, Lisa, Vos, Yvonne J., Westers, Helga, Hoedemaekers, Yvonne M., Sinke, Richard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Jongbloed, Jan D.H., van der Zwaag, Paul A.
Publikováno v:
In International Journal of Cardiology 1 June 2021 332:99-104
Autor:
Hoorntje, Edgar T.1,2, Posafalvi, Anna1, Syrris, Petros3, van der Velde, K. Joeri1, Bolling, Marieke C.4, Protonotarios, Alexandros3, Boven, Ludolf G.1, Amat-Codina, Nuria5, Groeneweg, Judith A.6, Wilde, Arthur A.7,8, Sobreira, Nara9, Calkins, Hugh5, Hauer, Richard N. W.6, Jonkman, Marcel F.4, McKenna, William J.3, Elliott, Perry M.3, Sinke, Richard J.1, van den Berg, Maarten P.10, Chelko, Stephen P.5, James, Cynthia A.5
Publikováno v:
PLoS ONE. 8/30/2018, Vol. 13 Issue 8, p1-14. 14p.
Autor:
Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)
AIMS:Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the gene
Externí odkaz:
https://doaj.org/article/8c4c11f0bd934c179abf128780e3a5e2
Autor:
Pósafalvi, A., Sztrik, J.
Publikováno v:
The Journal of the Operational Research Society, 1989 Sep 01. 40(9), 797-803.
Externí odkaz:
https://www.jstor.org/stable/2583061
Autor:
Rolf H. Sijmons, Paul A. van der Zwaag, Mohamed Z. Alimohamed, Jan D. H. Jongbloed, Helga Westers, Richard J. Sinke, Anna Posafalvi, Ludolf G. Boven, Krista K. van Dijk, Lisa Walters, Lennart Johansson, Birgit Sikkema-Raddatz, Yvonne M. Hoedemaekers, Yvonne J. Vos
Publikováno v:
International Journal of Cardiology, 332, pp. 99-104
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
Background: Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple cardiomyopathy-associated genes. Adding copy number variant (CNV) analysis of NGS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a0aa46f1b24d7ef4d72746604e3daf
Autor:
Kathleen J. Green, Edel A. O'Toole, Pier D. Lambiase, A. Posafalvi, William J. McKenna, Andrew Tinker, Silvia Castelletti, David P. Kelsell, Petros Syrris, T. Maruthappu, Perry M. Elliott, Paul J. Delaney
Publikováno v:
British Journal of Dermatology. 180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc1c56bec79346fc1306cb11b68cd2b1
https://doi.org/10.1111/bjd.17796
https://doi.org/10.1111/bjd.17796
Autor:
T. Maruthappu, A. Posafalvi, S. Castelletti, P.J. Delaney, P. Syrris, E.A. O'Toole, K.J. Green, P.M. Elliott, P.D. Lambiase, A. Tinker, W.J. McKenna, D.P. Kelsell
Publikováno v:
British Journal of Dermatology. 180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdceee64d510d90990b8cbfd71968efc
https://doi.org/10.1111/bjd.17808
https://doi.org/10.1111/bjd.17808
Autor:
Maarten P. van den Berg, Anna Posafalvi, Denise Hilfiker-Kleiner, Richard J. Sinke, Rowida Almomani, J. Peter van Tintelen, Marielle Alders, Jolanda van der Velden, Karen Sliwa, Peter van der Meer, Jan D. H. Jongbloed, Karin Y. van Spaendonck-Zwarts, Ilse A. E. Bollen, Dirk J. van Veldhuisen, Irene M. van Langen
Publikováno v:
European Heart Journal, 35(32), 2165-2173. Oxford University Press
European heart journal, 35(32), 2165-2173. Oxford University Press
van Spaendonck-Zwarts, K Y, Posafalvi, A, van den Berg, M P, Hilfiker-Kleiner, D, Bollen, I A E, Sliwa, K, Alders, M, Almomani, R, van Langen, I M, van der Meer, P, Sinke, R J, van der Velden, J, van Veldhuisen, D J, van Tintelen, J P & Jongbloed, J D H 2014, ' Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy ', European Heart Journal, vol. 35, no. 32, pp. 2165-2173 . https://doi.org/10.1093/eurheartj/ehu050
European heart journal, 35(32), 2165-2173. Oxford University Press
van Spaendonck-Zwarts, K Y, Posafalvi, A, van den Berg, M P, Hilfiker-Kleiner, D, Bollen, I A E, Sliwa, K, Alders, M, Almomani, R, van Langen, I M, van der Meer, P, Sinke, R J, van der Velden, J, van Veldhuisen, D J, van Tintelen, J P & Jongbloed, J D H 2014, ' Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy ', European Heart Journal, vol. 35, no. 32, pp. 2165-2173 . https://doi.org/10.1093/eurheartj/ehu050
Aim Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM.Methods and results We collected 18 families with PPCM an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2254ac9efc7bfbca5b365bcd022a97
https://doi.org/10.1093/eurheartj/ehu050
https://doi.org/10.1093/eurheartj/ehu050
Autor:
Edel A. O'Toole, Perry M. Elliott, Paul J. Delaney, A. Posafalvi, Petros Syrris, David P. Kelsell, Andrew Tinker, T. Maruthappu, Silvia Castelletti, Kathleen J. Green, William J. McKenna, Pier D. Lambiase
Publikováno v:
The British journal of dermatology. 180(5)
AIMS: Arrhythmogenic Cardiomyopathy (AC) is an inherited, frequently under diagnosed disorder, predisposing to sudden cardiac death. Rare, recessive forms of AC can be associated with woolly hair and palmoplantar keratoderma, but most autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed0b1a9b62e8ee0f4f8b10ea48e6676d
https://pubmed.ncbi.nlm.nih.gov/31025732
https://pubmed.ncbi.nlm.nih.gov/31025732
Autor:
Kathleen J. Green, Petros Syrris, David P. Kelsell, Edel A. O'Toole, T. Maruthappu, Andrew Tinker, A. Posafalvi, William J. McKenna, Silvia Castelletti
Publikováno v:
European Heart Journal. 39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe22cb0008389258a51af45e3d0bd058
https://doi.org/10.1093/eurheartj/ehy566.p5709
https://doi.org/10.1093/eurheartj/ehy566.p5709