Výsledky vyhledávání - "I. A. W. Van Rijsingen"

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

Autor: Eline A. Nannenberg, R. N. W. Hauer, van den Maarten Berg, Jan G. Post, van Isabelle Gelder, A. A. M. Wilde, van Peter Tintelen, I. A. W. Van Rijsingen, Judith A. Groeneweg, R. de Ruiter, van der Paul Zwaag, van der Pim Harst

Publikováno v: Netherlands Heart Journal
Netherlands heart journal, 21(6), 286-293. Bohn Stafleu van Loghum
Netherlands Heart Journal, 21(6), 286-293. Bohn, Stafleu, Van Loghum

Background Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10–15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5b4877fb9bdc98a5da7526d11d914d
http://europepmc.org/articles/PMC3661879

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A novel lamin A/C mutation in a Dutch family with premature atherosclerosis

Autor: Aeilko H. Zwinderman, A. A. W. Weterings, Marcel M.A.M. Mannens, M.A. van den Bergh Weerman, I. A. W. Van Rijsingen, S. J. Pinto, A.C. van der Wal, R. H. Lekanne Deprez, Astrid S Plomp

Publikováno v: Atherosclerosis, 229(1), 169-173. Elsevier Ireland Ltd

Objective: We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis. Methods: Sequence analysis of LMNA (using Alamut version 2.2), co-segregation analysis, electron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c14ea05ca30cb28dafd10f622c3c43e9
https://doi.org/10.1016/j.atherosclerosis.2013.04.016

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Autor: Y. M. Pinto, J.F. Hermans-van Ast, Gabriel Snoep, I. A. W. van Rijsingen, Sebastiaan C.A.M. Bekkers, Simon Schalla, A. van den Wijngaard, Becker S. N. Alzand, Harry J.G.M. Crijns, Yvonne Arens

Publikováno v: Netherlands Heart Journal, 19(4), 168-174. Bohn Stafleu van Loghum
Netherlands Heart Journal
Netherlands heart journal, 19(4), 168-174. Bohn Stafleu van Loghum

AIMS: Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) due to exercise-related ventricular arrhythmias (ERVA); however the pathological substrate is uncertain. The aim was to determine the prevalence of ERVA and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a82976da91c1b21d139947aa593810
https://doi.org/10.1007/s12471-011-0090-8

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Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

Autor: I. A. W. van Rijsingen, C. E. M. De Die-Smulders, Y. M. Pinto, Yvonne Arens, Simon Schalla, A. van den Wijngaard, J.F. Hermans-van Ast

Publikováno v: Netherlands heart journal, 17(12), 458-463. Bohn Stafleu van Loghum

Background. With the improvement in genetic testing over time, double-heterozygous mutations are more often found by coincidence in families with hypertrophic cardiomyopathy (HCM). Double heterozygosity can be a cause of the wellknown clinical divers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08969381d05c16070b7b337e5dbbeb92
https://doi.org/10.1007/bf03086304

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Recurrent and founder mutations in the Netherlands – Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy*

Autor: P. A. van der Zwaag, I. A. W. van Rijsingen, R. de Ruiter, E. A. Nannenberg, J. A. Groeneweg, J. G. Post, R. N. W. Hauer, I. C. van Gelder, M. P. van den Berg, P. van der Harst, A. A. M. Wilde, J. P. van Tintelen

Publikováno v: De Nederlandse gezondheidszorg ISBN: 9789036807043

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c3cac4df5e02ff362b8019d40020a2c
https://doi.org/10.1007/978-90-368-0705-0_11

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