Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy.
Autorzy:
Schuldt M; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands. van Driel B; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands. Algül S; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands. Parbhudayal RY; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands. Barge-SchaapveldDQCM; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Güçlü A; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.; Department of Cardiology, Isala Zwolle, 8025 AB Zwolle, The Netherlands. Jansen M; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands. Michels M; Department of Cardiology, Thorax Center, Erasmus Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands. Baas AF; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands. van de Wiel MA; Department of Epidemiology and Data Science, Amsterdam UMC, 1081 HV Amsterdam, The Netherlands. Nieuwdorp M; Department of Internal and Vascular Medicine, Amsterdam UMC, Universiteit van Amsterdam, 1105 AZ Amsterdam, The Netherlands. Levin E; Department of Internal and Vascular Medicine, Amsterdam UMC, Universiteit van Amsterdam, 1105 AZ Amsterdam, The Netherlands. Germans T; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands. Jans JJM; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands. van der Velden J; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.
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Źródło:
Cells [Cells] 2021 Oct 29; Vol. 10 (11). Date of Electronic Publication: 2021 Oct 29.
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Autorzy:
Cozijnsen L; Department of Cardiology, Gelre Hospital, Apeldoorn, The Netherlands. Plomp AS; Department of Clinical Genetics, Amsterdam University Medical Centre, AMC, Amsterdam, The Netherlands. Post JG; Department of Genetics, University Medical Centre, Utrecht, The Netherlands. Pals G; Department of Clinical Genetics, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands. Bogunovic N; Department of Physiology, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands. Yeung KK; Department of Physiology, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands. Niessen HWM; Department of Pathology and Cardiac Surgery, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands. Goumans MTH; Department of Cell and Chemical Biology, Leiden University Medical Centre, Leiden, The Netherlands. Barge-SchaapveldDQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. Micha D; Department of Clinical Genetics, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
Autorzy:
Overwater E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. Efrat R; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. Barge-SchaapveldDQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Lakeman P; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. Weiss MM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. Maugeri A; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. van Tintelen JP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Houweling AC; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Autorzy:
Hoorntje ET; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.; Netherlands Heart Institute, Utrecht, the Netherlands. van Spaendonck-Zwarts KY; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands. Te Rijdt WP; Department of Cardiology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. Boven L; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. Vink A; Department of Pathology, University Medical Centre Utrecht, Utrecht, the Netherlands. van der Smagt JJ; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands. Asselbergs FW; Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht, Utrecht, the Netherlands.; Durrer Centre for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands.; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK. van Wijngaarden J; Department of Cardiology, Deventer Hospital, Deventer, the Netherlands. Hennekam EA; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands. Pinto YM; Department of Cardiology, Academic Medical Centre, Amsterdam, the Netherlands. Lekanne Deprez RH; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands. Barge-SchaapveldDQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Bootsma M; Department of Cardiology, Leiden University Medical Centre, Leiden, the Netherlands. Regieli J; Department of Cardiology, Isala Clinics, Zwolle, the Netherlands.; Heart Clinic, Amsterdam, the Netherlands. Hoedemaekers YM; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. van den Berg MP; Department of Cardiology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. van Tintelen JP; Netherlands Heart Institute, Utrecht, the Netherlands.; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
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Źródło:
European journal of heart failure [Eur J Heart Fail] 2018 Apr; Vol. 20 (4), pp. 803-806. Date of Electronic Publication: 2017 Oct 23.
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