Ronald H Lekanne Deprez
Overview
Explore the profile of Ronald H Lekanne Deprez including associated specialties, affiliations and a list of published articles.
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39
Citations
2526
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Recent Articles
1.
Hassanzada F, Jansen M, van Lint F, Bosman L, Schmidt A, Dooijes D, et al.
Circ Genom Precis Med
. 2024 Dec;
17(6):e004561.
PMID: 39689185
Background: founder variants cause hypertrophic cardiomyopathy leading to heart failure and malignant ventricular arrhythmias. Exercise is typically regarded as a risk factor for disease expression although evidence is conflicting. Stratifying...
2.
Houweling A, Lekanne Deprez R, Wilde A
Adv Exp Med Biol
. 2024 Jun;
1441:977-990.
PMID: 38884765
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives. Carriers of a pathogenic variant can subsequently be screened at...
3.
Krijger Juarez C, Sequeira V, van den Boogaard M, Veerman C, Hoetjes N, Poel E, et al.
Heart Rhythm
. 2024 Feb;
21(7):1173-1175.
PMID: 38382684
No abstract available.
4.
Jansen M, de Brouwer R, Hassanzada F, Schoemaker A, Schmidt A, Kooijman-Reumerman M, et al.
JACC Heart Fail
. 2023 Aug;
12(1):134-147.
PMID: 37565978
Background: MYH7 variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM). Screening of relatives of patients with genetic cardiomyopathy is recommended from 10 to 12 years of...
5.
Marsili L, van Lint F, Russo F, Spaendonck-Zwarts K, Ader F, Bichon M, et al.
Neth Heart J
. 2023 Jul;
31(7-8):300-307.
PMID: 37488328
Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated...
6.
Nagyova E, Hoorntje E, Te Rijdt W, Bosman L, Syrris P, Protonotarios A, et al.
J Cardiovasc Transl Res
. 2023 Jul;
16(6):1276-1286.
PMID: 37418234
The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype....
7.
Jansen M, Schuldt M, van Driel B, Schmidt A, Christiaans I, van der Crabben S, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36835444
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance...
8.
Verwijs S, Pinto Y, Kuster D, van der Velden J, Limpens J, van Hattum J, et al.
Cardiology
. 2021 Oct;
147(1):90-97.
PMID: 34706369
Background: Genetic variants associated with cardiomyopathies (CMPs) are prevalent in the general population. In young athletes, CMPs account for roughly a quarter of sudden cardiac death, with further unexplained clustering...
9.
Moghadasi S, Fijn R, Beeres S, Bikker H, Jongbloed J, Josephus Jitta D, et al.
Eur Heart J Case Rep
. 2021 Oct;
5(10):ytab333.
PMID: 34703979
Background: Cardiotoxicity presenting as cardiomyopathy is a common side effect in cancer treatment especially with anthracyclines. The role of genetic predisposition is still being investigated. Case Summary: Four unrelated patients...
10.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping L, Wessels M, Postma A, van Schuppen J, van Slegtenhorst M, Saris J, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3814-3820.
PMID: 34254723
Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X-linked filaminopathies caused by a variety of FLNA-variants. TODPD is characterized by skeletal defects,...