Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Lekanne Deprez, R."'
Autor:
Jansen, Mark, Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.
Publikováno v:
Journal of Cardiovascular Translational Research; Dec2023, Vol. 16 Issue 6, p1267-1275, 9p
Autor:
Jansen, Mark, Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.
Publikováno v:
Jansen, M, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W & Baas, A F 2023, ' Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity : an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers ', Journal of Cardiovascular Translational Research . https://doi.org/10.1007/s12265-023-10398-2
Journal of cardiovascular translational research. Springer New York
Journal of Cardiovascular Translational Research. Springer New York
Journal of cardiovascular translational research. Springer New York
Journal of Cardiovascular Translational Research. Springer New York
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this explorat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aff9fb279e8f4493d5c94f92f9171fd0
https://research.vumc.nl/en/publications/0d5636b2-2169-4ffe-8c61-759d8465b522
https://research.vumc.nl/en/publications/0d5636b2-2169-4ffe-8c61-759d8465b522
Akademický článek
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Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Van Den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D.H., Van Den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M.A.M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J.M.
Publikováno v:
De Nederlandse gezondheidszorg ISBN: 9789036807043
Founder Mutations in Inherited Cardiac Diseases in the Netherlands, 43-50
STARTPAGE=43;ENDPAGE=50;TITLE=Founder Mutations in Inherited Cardiac Diseases in the Netherlands
Founder Mutations in Inherited Cardiac Diseases in the Netherlands, 43-50
STARTPAGE=43;ENDPAGE=50;TITLE=Founder Mutations in Inherited Cardiac Diseases in the Netherlands
Background About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8e245abd1dabb72915ba3df7216cd4
https://doi.org/10.1007/978-90-368-0705-0_7
https://doi.org/10.1007/978-90-368-0705-0_7
Autor:
Linde, I., Hiemstra, Y., Bökenkamp, R., Mil, A., Breuning, M., Ruivenkamp, C., Broeke, S., Veldkamp, R., Waning, J., Slegtenhorst, M., Spaendonck-Zwarts, K., Lekanne Deprez, R., Herkert, J., Boven, L., Zwaag, P., Jongbloed, J., Bootsma, M., Barge-Schaapveld, D.
Publikováno v:
Netherlands Heart Journal; Dec2017, Vol. 25 Issue 12, p675-681, 7p
Autor:
Buijs, A.J., Sherr, S., Baal, S. van, Bezouw, S. van, Plas, D.C. van der, Geurts van Kessel, A.H.M., Riegman, P.H.J., Lekanne Deprez, R., Zwarthoff, E.C., Hagemeijer, A., Grosveld, G.
Publikováno v:
Oncogene, 10, 1511-1519
Oncogene, 10, 8, pp. 1511-1519
Oncogene, 10, pp. 1511-1519
Oncogene, 10, 8, pp. 1511-1519
Oncogene, 10, pp. 1511-1519
Contains fulltext : 21395___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50aa36c3c92fee9a9fbce01a51ed0906
http://hdl.handle.net/2066/188524
http://hdl.handle.net/2066/188524
Autor:
Langen, I. M., Arens, Y., Baars, H., Bokenkamp, R., Delhaas, T., Dooijes, D., Lekanne Deprez, R., Majoor-Krakauer, D., Folkert ten Cate, Michels, M., Mil, A., Pinto, Y., Schiphorst, A., Smagt, J. J., Tintelen, J. P.
Publikováno v:
Scopus-Elsevier
Netherlands heart journal, 18(3), 144-+. Bohn Stafleu van Loghum
Netherlands Heart Journal, 18(3), 144-+. Bohn, Stafleu, Van Loghum
Netherlands heart journal, 18(3), 144-+. Bohn Stafleu van Loghum
Netherlands Heart Journal, 18(3), 144-+. Bohn, Stafleu, Van Loghum
Dutch professional groups involved in drawing up this guideline: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the univers
Autor:
Lekanne Deprez, R H, Groen, N A, van Biezen, N A, Hagemeijer, A, van Drunen, E, Koper, J W, Avezaat, C J, Bootsma, D, Zwarthoff, E C
Cytogenetic analysis of meningioma cells from one particular patient (MN32) displayed the stem-line karyo-type 45, XY, -1, 4p+, 22q-, 22q+, which thus had rearrangements of both chromosomes 22. The 22q+ marker appeared as a dicentric: 22 pter----q11:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d05b6a260dfa5df94393798929bb507c
https://europepmc.org/articles/PMC1682947/
https://europepmc.org/articles/PMC1682947/