Zobrazeno 1 - 10
of 65
pro vyhledávání: '"A. Posafalvi"'
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:
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:
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
Akademický článek
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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:
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:
Johanna C. Herkert, K. E. Niezen-Koning, Ludolf G. Boven, Marja W. Wessels, Anna Posafalvi, Peter G. J. Nikkels, Paul A. van der Zwaag, J. Peter van Tintelen, Ingrid H van Veen-Hof, Richard J. Rodenburg, Jan G. Post, Maarten P. van den Berg, Jan D. H. Jongbloed, Peter H.G.M. Willems, Judith M.A. Verhagen, Rowida Almomani, Richard J. Sinke, Liesbeth T. Wintjes
Publikováno v:
Journal of Medical Genetics, 57, 23-30
Journal of Medical Genetics, 57, 1, pp. 23-30
JOURNAL OF MEDICAL GENETICS, 57(1), 23-30. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(1), 23. BMJ Publishing Group
Journal of Medical Genetics, 57(1), 23-30. BMJ Publishing Group
Journal of Medical Genetics, 57, 1, pp. 23-30
JOURNAL OF MEDICAL GENETICS, 57(1), 23-30. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(1), 23. BMJ Publishing Group
Journal of Medical Genetics, 57(1), 23-30. BMJ Publishing Group
BackgroundIdiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge can af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b936e0451323aa4e2371db549ba6a2e8
https://hdl.handle.net/1874/392527
https://hdl.handle.net/1874/392527
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