Works by van Engelen, Baziel


Results: 172
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    Signals of complexity and fragmentation in accelerometer data.

    Published in:
    PLoS ONE, 2025, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0326522
    By:
    • Weinans, Els;
    • Rector, Jerrald L.;
    • Charman, Sarah;
    • Stefanetti, Renae J.;
    • Jimenez-Moreno, Cecilia;
    • Gorman, Gráinne S.;
    • van de Leemput, Ingrid;
    • van As, Daniël;
    • Melis, René;
    • van Engelen, Baziel
    Publication type:
    Article
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    Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
    By:
    • Draaisma, Fieke;
    • Leenders, Erika K. S. M.;
    • Erasmus, Corrie E.;
    • Braakman, Hilde M. H.;
    • Burgers, Melanie C. J.;
    • Coppens, Catelijne H.;
    • Rinne, Tuula;
    • Zenker, Martin;
    • Tartaglia, Marco;
    • Reintjes, Wesley;
    • Voermans, Nicol C.;
    • van Engelen, Baziel G. M.;
    • van Alfen, Nens;
    • Draaisma, Jos M. T.
    Publication type:
    Article
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    The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.

    Published in:
    Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-022-00310-y
    By:
    • Claus, Clothilde;
    • Slavin, Moriya;
    • Ansseau, Eugénie;
    • Lancelot, Céline;
    • Bah, Karimatou;
    • Lassche, Saskia;
    • Fiévet, Manon;
    • Greco, Anna;
    • Tomaiuolo, Sara;
    • Tassin, Alexandra;
    • Dudome, Virginie;
    • Kusters, Benno;
    • Declèves, Anne-Emilie;
    • Laoudj-Chenivesse, Dalila;
    • van Engelen, Baziel G. M.;
    • Nonclercq, Denis;
    • Belayew, Alexandra;
    • Kalisman, Nir;
    • Coppée, Frédérique
    Publication type:
    Article
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    Meeting report: the 2020 FSHD International Research Congress.

    Published in:
    Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00253-2
    By:
    • Kyba, Michael;
    • Bloch, Robert J.;
    • Dumonceaux, Julie;
    • Harper, Scott Q.;
    • van der Maarel, Silvère M.;
    • Sverdrup, Francis M.;
    • Wagner, Kathryn R.;
    • van Engelen, Baziel;
    • Chen, Yi-Wen
    Publication type:
    Article
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    Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
    By:
    • Reumers, Stacha F. I.;
    • Erasmus, Corrie E.;
    • Bouman, Karlijn;
    • Pennings, Maartje;
    • Schouten, Meyke;
    • Kusters, Benno;
    • Duijkers, Floor A. M.;
    • van der Kooi, Anneke;
    • Jaeger, Bregje;
    • Verschuuren‐Bemelmans, Corien C.;
    • Faber, Catharina G.;
    • van Engelen, Baziel G.;
    • Kamsteeg, Erik‐Jan;
    • Jungbluth, Heinz;
    • Voermans, Nicol C.
    Publication type:
    Article
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    Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256
    By:
    • Janssen, Mirian C H;
    • van Engelen, Baziel;
    • Kapusta, Livia;
    • Lammens, Martin;
    • van Dijk, Martin;
    • Fischer, Judith;
    • van der Graaf, Marinette;
    • Wevers, Ron A;
    • Fahrleitner, Manuela;
    • Zimmermann, Robert;
    • Morava, Eva
    Publication type:
    Article
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    Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11
    By:
    • Janssen, Mirian C H;
    • van Engelen, Baziel;
    • Kapusta, Livia;
    • Lammens, Martin;
    • van Dijk, Martin;
    • Fischer, Judith;
    • van der Graaf, Marinette;
    • Wevers, Ron A;
    • Fahrleitner, Manuela;
    • Zimmermann, Robert;
    • Morava, Eva
    Publication type:
    Article
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    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

    Published in:
    Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
    By:
    • Lemmers, Richard J L F;
    • Tawil, Rabi;
    • Petek, Lisa M;
    • Balog, Judit;
    • Block, Gregory J;
    • Santen, Gijs W E;
    • Amell, Amanda M;
    • van der Vliet, Patrick J;
    • Almomani, Rowida;
    • Straasheijm, Kirsten R;
    • Krom, Yvonne D;
    • Klooster, Rinse;
    • Sun, Yu;
    • den Dunnen, Johan T;
    • Helmer, Quinta;
    • Donlin-Smith, Colleen M;
    • Padberg, George W;
    • van Engelen, Baziel G M;
    • de Greef, Jessica C;
    • Aartsma-Rus, Annemieke M
    Publication type:
    Article
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    Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
    By:
    • Krom., Yvonne D.;
    • Thijssen., Peter E.;
    • Young, Janet M.;
    • den Hamer, Bianca;
    • Balog, Judit;
    • Yao, Zizhen;
    • Maves, Lisa;
    • Snider, Lauren;
    • Knopp, Paul;
    • Zammit, Peter S.;
    • Rijkers, Tonnie;
    • van Engelen, Baziel G. M.;
    • Padberg, George W.;
    • Frants, Rune R.;
    • Tawil, Rabi;
    • Tapscott, Stephen J.;
    • van der Maarel, Silvère M.
    Publication type:
    Article
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    Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

    Published in:
    Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
    By:
    • Voermans, Nicol C.;
    • Kleefstra, Tjitske;
    • Gabreëls-Festen, Anneke A.;
    • Faas, Brigitte H. W.;
    • Kamsteeg, Erik-Jan;
    • Houlden, Henry;
    • Laurá, Matilde;
    • Polke, James M.;
    • Pandraud, Amelie;
    • van Ruissen, Fred;
    • van Engelen, Baziel G.;
    • Reilly, Mary M.
    Publication type:
    Article
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    The phenotype of the Gly94fsX222 PMP22 insertion.

    Published in:
    Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x
    By:
    • de Vries, Sara D. J.;
    • Verhamme, Camiel;
    • van Ruissen, Fred;
    • van Paassen, Barbara W.;
    • Arts, Willem F.;
    • Kerkhoff, Henk;
    • van Engelen, Baziel G. M.;
    • Lammens, Martin;
    • de Visser, Marianne;
    • Baas, Frank;
    • van der Kooi, Anneke J.
    Publication type:
    Article
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    Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus Erythematosus.

    Published in:
    Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01200
    By:
    • Rietveld, Anke;
    • van den Hoogen, Luuk L.;
    • Bizzaro, Nicola;
    • Blokland, Sofie L. M.;
    • Dähnrich, Cornelia;
    • Gottenberg, Jacques-Eric;
    • Houen, Gunnar;
    • Johannsen, Nora;
    • Mandl, Thomas;
    • Meyer, Alain;
    • Nielsen, Christoffer T.;
    • Olsson, Peter;
    • van Roon, Joel;
    • Schlumberger, Wolfgang;
    • van Engelen, Baziel G. M.;
    • Saris, Christiaan G. J.;
    • Pruijn, Ger J. M.
    Publication type:
    Article
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    High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250
    By:
    • Lemmers, Richard J L F;
    • Vliet, Patrick J van der;
    • Granado, David San Leon;
    • van der Stoep, Nienke;
    • Buermans, Henk;
    • Schendel, Robin van;
    • Schimmel, Joost;
    • Visser, Marianne de;
    • Coster, Rudy van;
    • Jeanpierre, Marc;
    • Laforet, Pascal;
    • Upadhyaya, Meena;
    • Engelen, Baziel van;
    • Sacconi, Sabrina;
    • Tawil, Rabi;
    • Voermans, Nicol C;
    • Rogers, Mark;
    • Maarel, Silvère M van der
    Publication type:
    Article
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