يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"Fastre, E"', وقت الاستعلام: 1.08s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

    المؤلفون: Futema, M, Ramaswami, U, Tichy, L, Bogsrud, MP, Holven, KB, van Lennep, JR, Wiegman, A, Descamps, OS, De Leener, A, Fastre, E, Vrablik, M, Freiberger, T, Esterbauer, H, Dieplinger, H, Greber-Platzer, S, Medeiros, AM, Bourbon, M, Mollaki, V, Drogari, E, Humphries, SE

    المصدر: Atherosclerosis , 319 pp. 108-117. (2021)

    مصطلحات موضوعية: Heterozygous familial hypercholesterolaemia, Mutation spectrum, LDL-C concentrations, Statin treatment

    وصف الملف: text

    العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124727/1/Futema_adjusted_ATH-D-20-00178_R2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124727Test/

    الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124727/1/Futema_adjusted_ATH-D-20-00178_R2.pdfTest
    https://discovery.ucl.ac.uk/id/eprint/10124727Test/

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  2. 2
    دورية أكاديمية
    Characterization of ANGPT2 mutations associated with primary lymphedema

    المؤلفون: Leppänen, V.-M. (Veli-Matti), Brouillard, P. (Pascal), Korhonen, E. A. (Emilia A.), Sipilä, T. (Tuomas), Jha, S. K. (Sawan Kumar), Revencu, N. (Nicole), Labarque, V. (Veerle), Fastré, E. (Elodie), Schlögel, M. (Matthieu), Ravoet, M. (Marie), Singer, A. (Amihood), Luzzatto, C. (Claudia), Angelone, D. (Donatella), Crichiutti, G. (Giovanni), D’Elia, A. (Angela), Kuurne, J. (Jaakko), Elamaa, H. (Harri), Koh, G. Y. (Gou Young), Saharinen, P. (Pipsa), Vikkula, M. (Miikka), Alitalo, K. (Kari)

    وصف الملف: application/pdf

    الإتاحة: http://urn.fi/urn:nbn:fi-fe2022030221388Test

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  3. 3
    Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

    المؤلفون: Futema, M. Ramaswami, U. Tichy, L. Bogsrud, M.P. Holven, K.B. Roeters van Lennep, J. Wiegman, A. Descamps, O.S. De Leener, A. Fastre, E. Vrablik, M. Freiberger, T. Esterbauer, H. Dieplinger, H. Greber-Platzer, S. Medeiros, A.M. Bourbon, M. Mollaki, V. Drogari, E. Humphries, S.E.

    مصطلحات موضوعية: nutritional and metabolic diseases, lipids (amino acids, peptides, and proteins)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::d6afc732f17691d39ff61782d552fd74Test
    https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3102840Test


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  4. 4
    دورية أكاديمية
    Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

    المؤلفون: Mendola, A., Schlögel, M.J., Ghalamkarpour, A., Irrthum, A., Nguyen, H.L., Fastré, E., Bygum, A., van der Vleuten, C., Fagerberg, C., Baselga, E., Quere, I., Mulliken, J.B., Boon, L.M., Brouillard, P., Vikkula, M.

    المصدر: Molecular Syndromology ; volume 4, issue 6, page 257-266 ; ISSN 1661-8769 1661-8777

    الإتاحة: https://doi.org/10.1159/000354097Test
    https://karger.com/msy/article-pdf/4/6/257/3905003/000354097.pdfTest

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  5. 5
    دورية أكاديمية
    Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

    المؤلفون: Fastré, E, Lanteigne, L-E, Helaers, R, Giacalone, G, Revencu, N, Dionyssiou, D, Demiri, E, Brouillard, P, Vikkula, M

    المساهمون: UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales

    المصدر: Clinical genetics, Vol. 94, no.1, p. 179-181 (2018)

    مصطلحات موضوعية: DNA Mutational Analysis, Genetic Association Studies, Genetic Loci, Humans, Loss of Function Mutation, Lymphedema, Pedigree, Phenotype, RNA Splice Sites, Vascular Endothelial Growth Factor C, VEGFR3, lymphatic, mutation, primary lymphedema

    العلاقة: boreal:222472; http://hdl.handle.net/2078.1/222472Test; info:pmid/29542815; urn:EISSN:1399-0004

    الإتاحة: https://doi.org/10.1111/cge.13204Test
    http://hdl.handle.net/2078.1/222472Test

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  6. 6
    مؤتمر
    No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

    المؤلفون: Schlögel, MJ, Mendola, A, Fastré, E, Devriendt, Koenraad, de Ravel de l'Argentière, Thomy, Van Esch, Hilde, Cristofoli, Francesca, Casteels, Ingele, Vasudevan, P, Soller, M, Villanueva, M, Singer, A, Fieggen, K, Lipson, M, Claes, K, Meire, F, Carrera, I A, Boon, L, Brouillard, P, Vikkula, M

    العلاقة: European Journal of Human Genetics vol:22 issue:suppl 1 pages:123-123; The European Human Genetics Conference 2014 location:Milan, Italy date:31 May-3 June 2014; https://lirias.kuleuven.be/handle/123456789/466262Test

    الإتاحة: https://lirias.kuleuven.be/handle/123456789/466262Test

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  7. 7
    مؤتمر
    All familial cases of MCLMR are caused by mutations in KIF11

    المؤلفون: Schloger, MJ, Brouillard, P, Mendola, A, Fastre, E, Cristofoli, F, Devriendt, Koenraad, Van Esch, Hilde, Vasudevan, P, Soller, M, Villanueva, M, Singer, A, Fieggen, K, Carrera, I, Loeys, BL, Van Laer, L, Leroy, JG, Claes, K, De Baere, E, Boon, L, Vikkula, M

    العلاقة: Proceedings pages:69-69; Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed” location:Brussels, Belgium date:March 15, 2013; https://lirias.kuleuven.be/handle/123456789/395579Test

    الإتاحة: https://lirias.kuleuven.be/handle/123456789/395579Test

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