Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID von van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

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Making headway with genetic diagnostics of intellectual disabilities von Willemsen, M.H., Kleefstra, T.

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De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum von Jansen, S., Kleefstra, T., Willemsen, M.H., de Vries, P., Pfundt, R., Hehir-Kwa, J.Y., Gilissen, C., Veltman, J.A., de Vries, B.B.A., Vissers, L.E.L.M.

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Genetic Risk for Smoking: Disentangling Interplay Between Genes and Socioeconomic Status von Pasman, Joëlle A., Demange, Perline A., Guloksuz, Sinan, Willemsen, A. H. M., Abdellaoui, Abdel, ten Have, Margreet, Hottenga, Jouke-Jan, Boomsma, Dorret I., de Geus, Eco, Bartels, Meike, de Graaf, Ron, Verweij, Karin J. H., Smit, Dirk J., Nivard, Michel, Vink, Jacqueline M.

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Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions von Willemsen, MH, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, WM, Yntema, HG, van Hagen, JM, Nieuwint, AWM, Morrison, N, Keijzers-Vloet, STM, Hoischen, A, Brunner, HG, Tolmie, J, Kleefstra, T

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Safe Linkage of Cohort and Population-Based Register Data in a Genomewide Association Study on Health Care Expenditure von de Zeeuw, Eveline L., Voort, Lykle, Schoonhoven, Ruurd, Nivard, Michel G., Emery, Thomas, Hottenga, Jouke-Jan, Willemsen, Gonneke A. H. M., Dykstra, Pearl A., Zarrabi, Narges, Kartopawiro, John D., Boomsma, Dorret I.

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Cardiac hypertrophy is enhanced in PPARα−/− mice in response to chronic pressure overload von Smeets, Pascal J.H., Teunissen, Birgit E.J., Willemsen, Peter H.M., van Nieuwenhoven, Frans A., Brouns, Agnieszka E., Janssen, Ben J.A., Cleutjens, Jack P.M., Staels, Bart, van der Vusse, Ger J., van Bilsen, Marc

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Cardiac fatty acid metabolism is preserved in the compensated hypertrophic rat heart von Degens, Hans, de Brouwer, Kristel F J, Gilde, Andries J, Lindhout, Martijn, Willemsen, Peter H M, Janssen, Ben J, van der Vusse, Ger J, van Bilsen, Marc

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Autism and behavior in adult patients with Dravet syndrome (DS) von Berkvens, J.J.L, Veugen, I, Veendrick-Meekes, M.J.B.M, Snoeijen-Schouwenaars, F.M, Schelhaas, H.J, Willemsen, M.H, Tan, I.Y, Aldenkamp, A.P

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Update on Kleefstra Syndrome von Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.

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Functional and metabolic adaptation of the heart to prolonged thyroid hormone treatment von Degens, H, Gilde, A. J, Lindhout, M, Willemsen, P. H. M, van der Vusse, G. J, van Bilsen, M

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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review von van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

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Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene von Zwarts, M.J, Willemsen, M.H, Kamsteeg, E.-J, Schelhaas, H.J

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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications von Wincent, J., Bruno, D.L., van Bon, B.W.M., Bremer, A., Stewart, H., Bongers, E.M.H.F., Ockeloen, C.W., Willemsen, M.H., Keays, D.A.D., Baird, G., Newbury, D.F., Kleefstra, T., Marcelis, C., Kini, U., Stark, Z., Savarirayan, R., Sheffield, L.J., Zuffardi, O., Slater, H.R., de Vries, B.B., Knight, S.J.L., Anderlid, B.-M., Schoumans, J.

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Activation of PPARδ inhibits cardiac fibroblast proliferation and the transdifferentiation into myofibroblasts von TEUNISSEN, Birgit E. J, SMEETS, Pascal J. H, WILLEMSEN, Peter H. M, DE WINDT, Leon J, VAN DER VUSSE, Ger J, VAN BILSEN, Marc

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Effects of fatty acids on uncoupling protein‐2 expression in the rat heart von VAN DER LEE, KARIN A. J. M., WILLEMSEN, PETER H. M., VAN DER VUSSE, GER J., VAN BILSEN, MARC

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Adult Phenotypes in Angelman- and Rett-Like Syndromes von Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.

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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability von Willemsen, Marjolein H, Vallès, Astrid, Kirkels, Laurens A M H, Mastebroek, Mathilde, Olde Loohuis, Nikkie, Kos, Aron, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Nillesen, Willy M, Pfundt, Rolph, Holder-Espinasse, Muriel, Vallée, Louis, Andrieux, Joris, Coppens-Hofman, Marjolein C, Rensen, Hanneke, Hamel, Ben C J, van Bokhoven, Hans, Aschrafi, Armaz, Kleefstra, Tjitske

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Utilization of Deep-sea Sharks at Hatton Bank in the North Atlantic von Kjerstad, H, Fossen, I, Willemsen, M H

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