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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Autor: J.S. Copier, M. Bootsma, C. Ng, A.A.M. Wilde, R.A. Bertels, H. Bikker, I. Christiaans, S.N. van der Crabben, J.A. Hol, T.T. Koopmann, J. Knijnenburg, A.A.J. Lommerse, J.J. van der Smagt, C.R. Bezzina, J.I. Vandenberg, A.O. Verkerk, D.Q.C.M. Barge-Schaapveld, E.M. Lodder

BackgroundVariants in KCNH2, encoding the hERG channel which is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to Long QT Syndrome type 2 (LQTS2). We identified eight index patients with a new varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8f6266234484eac49e41c280af840c7
https://doi.org/10.1101/2022.08.05.502917

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Recurrent variant of unknown significance in KCNH2 classified through functional characterisation

Autor: JS Copier, M Bootsma, AAM Wilde, RA Bertels, H Bikker, I Christiaans, TT Koopmann, AAJ Lommerse, CR Bezzina, AO Verkerk, DQCM Barge-Schaapveld, EM Lodder

Publikováno v: EP Europace. 24

Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): The Dutch Research Council (NWO Talent Scheme) Background Variants in KCNH2, the gene encoding the hERG channel and responsible for th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7c2c44fd64d3b43ebee60f0eec2b80d5
https://doi.org/10.1093/europace/euac053.014

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Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels

Autor: K F, de Geus, A A, Anas, R, Franssen, F A M, Duijkers, H, Bikker, G E, Linthorst

Publikováno v: The Netherlands journal of medicine. 76(4)

A 61-year-old Ghanaian woman presented with dizziness and low oxygen saturations whereupon a methaemoglobin level of 24.9% was obtained. Initially it was thought to be caused by an unknown toxin. However, failure to normalise spontaneously and a shor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9dcc0edb1562a28ff01a78284b9e6e17
https://pubmed.ncbi.nlm.nih.gov/29845943

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Akademický článek

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Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Computer-guided system for design of factories

Autor: Ca Van Luttervelt, Fw Wedman, J Tong, H Bikker

Publikováno v: International Journal of Computer Integrated Manufacturing. 16:571-585

To stay competitive at the start of the 21st century, manufacturing companies are in great need of support for designing/redesigning their production systems in accordance with the drastically, rapidly and frequently changing environment. Our aim is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f874700531dbdead8dd27cbc124eda00
https://doi.org/10.1080/0951192031000115705

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A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

Autor: H. Bikker, T. Vulsma, M. H. Gons, J. J. M. De Vijlder, Frank Baas, M. T. Den Hartog

Publikováno v: Journal of clinical endocrinology and metabolism, 79(1), 248-252. The Endocrine Society

In this study we present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the patient, thyroid peroxidase (TPO) activity and the iodination degree of thyroglobulin were belo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1d11279ca75d8200c7c46134c4fa75
https://doi.org/10.1210/jc.79.1.248

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