Zobrazeno 1 - 10 of 57 pro vyhledávání: '"Ronald H. Lekanne Deprez"'
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Akademický článek
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
Autor: Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas
Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 4, p 4031 (2023)
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po
Externí odkaz: https://doaj.org/article/e223c94791014e57a9ae7b833ca8be81
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2
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Autor: Stephen P. Robertson, Joost van Schuppen, Ronald H. Lekanne Deprez, Marielle Alders, Marja W. Wessels, Lynne Rumping, Alex V. Postma, Marjon van Slegtenhorst, J. Peter van Tintelen, Saskia M. Maas, Jasper J. Saris
Publikováno v: American journal of medical genetics. Part A, 185(12), 3814-3820. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(12), 3814-3820. Wiley-Liss Inc.
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, skin fibromata and dysmorphi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6485f2c3e96cb82d65c6c55f243a946
https://doi.org/10.1002/ajmg.a.62417
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3
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Autor: Cynthia A. James, Ray E. Hershberger, Kalliopi Pilichou, Ana Morales, Jan D. H. Jongbloed, Argelia Medeiros Domingo, Jennifer McGlaughon, Alexandros Protonotarios, Courtney Thaxton, Elizabeth Jordan, Emily Brown, Ronald H. Lekanne Deprez, C. Lisa Kurtz, Brittney Murray, Petros Syrris, Babken Asatryan, Daniel P. Judge, J. Peter van Tintelen, Julia Cadrin-Tourigny, Rudy Celeghin
Publikováno v: James, Cynthia A; Jongbloed, Jan D H; Hershberger, Ray E; Morales, Ana; Judge, Daniel P; Syrris, Petros; Pilichou, Kalliopi; Domingo, Argelia Medeiros; Murray, Brittney; Cadrin-Tourigny, Julia; Lekanne Deprez, Ronald; Celeghin, Rudy; Protonotarios, Alexandros; Asatryan, Babken; Brown, Emily; Jordan, Elizabeth; McGlaughon, Jennifer; Thaxton, Courtney; Kurtz, C Lisa and van Tintelen, J Peter (2021). International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circulation. Genomic and precision medicine, 14(3), e003273. American Heart Association 10.1161/CIRCGEN.120.003273
Circulation. Genomic and Precision Medicine
Circulation-Genomic and precision medicine, 14(3), 273-284. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 14(3):e003273, 273-284. Lippincott Williams and Wilkins Ltd.
Supplemental Digital Content is available in the text.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf751d875add3ffb4035b93f61861a4
https://doi.org/10.1161/circgen.120.003273
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4
Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance: A Hypothesis-Generating Scoping Review
Autor: Ronald H. Lekanne Deprez, S M Verwijs, Yigal M. Pinto, Arthur A.M. Wilde, Juliette C van Hattum, Saskia N. van der Crabben, Harald T. Jørstad, Diederik W. D. Kuster, Jolanda van der Velden, Jacqueline Limpens
Publikováno v: Cardiology
Verwijs, S M, Pinto, Y M, Kuster, D W D, van der Velden, J, Limpens, J, van Hattum, J C, van der Crabben, S N, Lekanne Deprez, R H, Wilde, A A M & Jørstad, H T 2022, ' Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance : A Hypothesis-Generating Scoping Review ', Cardiology in the Young, vol. 147, no. 1, pp. 90-97 . https://doi.org/10.1159/000520471
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 in specific sports. Conse
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f17d5071f6a97a9f10682841027162
https://europepmc.org/articles/PMC8985030/
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5
Case series, chemotherapy-induced cardiomyopathy
Autor: Setareh Moghadasi, Jan D. H. Jongbloed, D. Q. C. M. Barge-Schaapveld, M Louisa Antoni, Ronald H. Lekanne Deprez, Rienke Fijn, Yvonne J. Vos, Judith R. Kroep, Mariëlle J M de Vreede, Saskia L M A Beeres, Hennie Bikker, Djike Josephus Jitta
Publikováno v: European Heart Journal-Case Reports, 5(10):ytab333. Oxford University Press
EUROPEAN HEART JOURNAL-CASE REPORTS, 5(10), 1-6. OXFORD UNIV PRESS
European Heart Journal: Case Reports
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 with a familial bu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741ac1e74154ceab68f1f731576e507c
https://hdl.handle.net/1887/3257105
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6
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Autor: Jan D. H. Jongbloed, Tiina Heliö, Ludolf G. Boven, Maarten P. van den Berg, Oyediran Akinrinade, Juha Koskenvuo, Ronald H. Lekanne Deprez, Paul A. van der Zwaag, Tero-Pekka Alastalo, Yigal M. Pinto, Samuel Myllykangas, J. Peter van Tintelen, Karin Y. van Spaendonck-Zwarts
Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific reports, 9(1):4093. Nature Publishing Group
Scientific Reports
Scientific Reports, 9(1):4093. Nature Publishing Group
Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN (TTNtv) especially in the A-band region account for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6fa3b5eddadeed28ee2e6bbc6e605f
http://link.springer.com/article/10.1038/s41598-019-39911-x
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7
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Autor: Bart Charbon, Ivo F.A.C. Fokkema, Ronald H. Lekanne Deprez, Jeroen F.J. Laros, Claudia A. L. Ruivenkamp, Bart de Koning, Richard J. Sinke, Morris A. Swertz, Gert Thijs, Quinten Waisfisz, Nienke Wieskamp, Rolph Pfundt, Marielle E. van Gijn, Johan T. den Dunnen, Isaac J. Nijman, Kristin M. Abbott, R. Moritz, Mariska Slofstra, Jasper J. Saris, Rubayte Rahman, Kasper Joeri van der Velde, Marinus J. Blok, Maartje J Vogel
Publikováno v: Human Mutation, 40, 2230-2238
Fokkema, I F A C, van der Velde, K J, Slofstra, M K, Ruivenkamp, C A L, Vogel, M J, Pfundt, R, Blok, M J, Lekanne Deprez, R H, Waisfisz, Q, Abbott, K M, Sinke, R J, Rahman, R, Nijman, I J, de Koning, B, Thijs, G, Wieskamp, N, Moritz, R J G, Charbon, B, Saris, J J, den Dunnen, J T, Laros, J F J, Swertz, M A & van Gijn, M E 2019, ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ', Human Mutation, vol. 40, no. 12, pp. 2230-2238 . https://doi.org/10.1002/humu.23896
Human Mutation, 40(12), 2230-2238. Wiley
Human Mutation
Human Mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human Mutation, 40(12), 2230. Wiley-Liss Inc.
Human Mutation, 40(12), 2230-2238. WILEY
Human Mutation, 40, 12, pp. 2230-2238
Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next‐generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard 5‐tier scal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ed75f037a58c36a8d55cf91aaaa300
https://hdl.handle.net/2066/213593
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8
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
Autor: Francesco Mazzarotto, Matthew S. Edwards, Jodie Ingles, Christopher Semsarian, Stacey Peters, James S. Ware, Ronald H. Lekanne Deprez, Petros Syrris, Rudy Celeghin, Judy Fan, Argelia Medeiros Domingo, Jessica Wang, Ray E. Hershberger, Lucas Bronicki, Kalliopi Pilichou, Laiken Peterson, Daniel P. Judge, Najim Lahrouchi, Rebecca L. Miller, Ana Morales, Tomohiko Ai, Brittney Murray, Renee Johnson, Elizabeth Jordan, J. Peter van Tintelen, Courtney Thaxton, Alexandros Protonotarios, Emily Brown, Cynthia A. James, Babken Asatryan, Palak Shah, R. Thomas Lumbers, Roddy Walsh, Olga Jarinova
Publikováno v: Circulation, vol 144, iss 1
Jordan, Elizabeth; Peterson, Laiken; Ai, Tomohiko; Asatryan, Babken; Bronicki, Lucas; Brown, Emily; Celeghin, Rudy; Edwards, Matthew; Fan, Judy; Ingles, Jodie; James, Cynthia A; Jarinova, Olga; Johnson, Renee; Judge, Daniel P; Lahrouchi, Najim; Lekanne Deprez, Ronald H; Lumbers, R Thomas; Mazzarotto, Francesco; Medeiros Domingo, Argelia; Miller, Rebecca L; ... (2021). Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation, 144(1), pp. 7-19. American Heart Association 10.1161/CIRCULATIONAHA.120.053033
Circulation, 144(1), 7-19. Lippincott Williams and Wilkins
Background: Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhyt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c257ccf99e8b95b8b6a3661bce91e58
https://pubmed.ncbi.nlm.nih.gov/34228479
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10
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Autor: Arthur van den Wijngaard, Carlo Marcelis, Ingrid P.C. Krapels, Yvonne M. Hoedemaekers, Apollonia T. J. M. Helderman-van den Enden, Debby M.E.I. Hellebrekers, Job A J Verdonschot, Esther Brusse, Godelieve R.F. Claes, Hanne M Boen, Imke Christiaans, Janneke G. J. Hoeijmakers, Marlies Kempers, Pieter Koopman, Bart Loeys, Han G. Brunner, Stephane Heymans, Els K. Vanhoutte, Amber de Haan, Jaap I. van Waning, Ronald H. Lekanne Deprez, Annette F. Baas, Dennis Dooijes, Emeline M. Van Craenenbroeck, Daniela Q.C.M. Barge-Schaapveld, Folkert W. Asselbergs
Publikováno v: Human mutation
Human Mutation, 41(6), 1091-1111. Wiley
Human Mutation
Human mutation, 41(6), 1091-1111. Wiley-Liss Inc.
Human Mutation, 41, 6, pp. 1091-1111
Human Mutation: Variation, Informatics and Disease, 41(6), 1091-1111. WILEY
Human Mutation, 41, 1091-1111
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28396717dc8ea773ff9ba4327b2e6ff1
http://hdl.handle.net/1942/34568
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