The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

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Published inEuropean journal of heart failure Vol. 20; no. 4; pp. 803 - 806
Main Authors Hoorntje, Edgar T., van Spaendonck‐Zwarts, Karin Y., te Rijdt, Wouter P., Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J., Asselbergs, Folkert W., van Wijngaarden, Jan, Hennekam, Eric A., Pinto, Yigal M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter
Format Journal Article
LanguageEnglish
Published Oxford, UK John Wiley & Sons, Ltd 01.04.2018
Subjects
Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - metabolism
Connectin - genetics
Connectin - metabolism
DNA - genetics
DNA Mutational Analysis
Female
Humans
Letter
Letters
Male
Middle Aged
Mutation
Pedigree
Online AccessGet full text
ISSN1388-9842
1879-0844
1879-0844
DOI10.1002/ejhf.1030

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Author Jongbloed, Jan D.H.
van Wijngaarden, Jan
Regieli, Jakub
van Tintelen, J. Peter
van Spaendonck‐Zwarts, Karin Y.
van den Berg, Maarten P.
Barge‐Schaapveld, Daniela Q.C.M.
Pinto, Yigal M.
Asselbergs, Folkert W.
Bootsma, Marianne
van der Smagt, Jasper J.
Boven, Ludolf
Lekanne Deprez, Ronald H.
Hoorntje, Edgar T.
Hennekam, Eric A.
te Rijdt, Wouter P.
Vink, Aryan
Hoedemaekers, Yvonne M.
AuthorAffiliation 12 Department of Clinical Genetics Leiden University Medical Centre Leiden the Netherlands
13 Department of Cardiology Leiden University Medical Centre Leiden the Netherlands
1 Department of Genetics, University of Groningen University Medical Centre Groningen Groningen the Netherlands
9 Institute of Cardiovascular Science, Faculty of Population Health Sciences University College London London UK
14 Department of Cardiology Isala Clinics Zwolle the Netherlands
11 Department of Cardiology Academic Medical Centre Amsterdam the Netherlands
10 Department of Cardiology Deventer Hospital Deventer the Netherlands
3 Department of Clinical Genetics, Academic Medical Centre University of Amsterdam Amsterdam the Netherlands
7 Department of Cardiology, Division Heart & Lungs University Medical Centre Utrecht Utrecht the Netherlands
5 Department of Pathology University Medical Centre Utrecht Utrecht the Netherlands
6 Department of Genetics University Medical Centre Utrecht Utrecht the Netherlands
4 Department
AuthorAffiliation_xml – name: 2 Netherlands Heart Institute Utrecht the Netherlands
– name: 14 Department of Cardiology Isala Clinics Zwolle the Netherlands
– name: 5 Department of Pathology University Medical Centre Utrecht Utrecht the Netherlands
– name: 15 Heart Clinic Amsterdam the Netherlands
– name: 8 Durrer Centre for Cardiovascular Research Netherlands Heart Institute Utrecht the Netherlands
– name: 9 Institute of Cardiovascular Science, Faculty of Population Health Sciences University College London London UK
– name: 4 Department of Cardiology, University of Groningen University Medical Centre Groningen Groningen the Netherlands
– name: 11 Department of Cardiology Academic Medical Centre Amsterdam the Netherlands
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– name: 13 Department of Cardiology Leiden University Medical Centre Leiden the Netherlands
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– name: 12 Department of Clinical Genetics Leiden University Medical Centre Leiden the Netherlands
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  givenname: Karin Y.
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Cites_doi 10.1126/scitranslmed.3010134
10.1200/JCO.2006.06.9443
10.1038/ng.3843
10.1002/ejhf.673
10.1038/ng.3719
10.1056/NEJMoa1110186
10.1016/j.jacc.2017.03.530
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  article-title: Titin‐truncating variants affect heart function in disease cohorts and the general population
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– volume: 49
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  article-title: Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
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  article-title: Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy
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  article-title: Truncations of titin causing dilated cardiomyopathy
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  article-title: Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
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  article-title: Screening for a BRCA2 rearrangement in high‐risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes
  publication-title: J Clin Oncol
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SubjectTerms Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - metabolism
Connectin - genetics
Connectin - metabolism
DNA - genetics
DNA Mutational Analysis
Female
Humans
Letter
Letters
Male
Middle Aged
Mutation
Pedigree
Title The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fejhf.1030
https://www.ncbi.nlm.nih.gov/pubmed/29057560
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Volume 20
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