Congenital myopathy caused by a novel missense mutation in the CFL2 gene von Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Agrawal, P.B, Beggs, A.H, Dara Hama-Amin, A, Diekstra, A, Knoers, N.V.A.M, Lammens, M, van Alfen, N

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P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene von Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Beggs, A.H, Dara-Hama Amin, A, Knoers, V.V.A, Lammens, M, Alfen, N

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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment von Reynaert, Nele, Ockeloen, C.W., Sävendahl, L., Beckers, D., Devriendt, K., Kleefstra, T., Carels, C.E.L., Grigelioniene, G., Nordgren, A., Francois, I., de Zegher, F., Casteels, K.

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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome von Feberwee, H.E., Feenstra, I., Oberoi, S., Sama, I.E., Ockeloen, C.W., Clum, F., Slavotinek, A., Kuijpers, M.A.R., Dooijes, D., Kuijpers-Jagtman, A.M., Kleefstra, T., Carels, C.E.L.

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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment von Reynaert, Nele, Ockeloen, C.W, Sävendahl, L, Beckers, Dominique, Devriendt, Koenraad, Kleefstra, T, Carels, Carine, Grigelioniene, G, Nordgren, A, Francois, Inge, de Zegher, Francis, Casteels, Kristina

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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome von Feberwee, H.E, Feenstra, I, Oberoi, S, Sama, I.E, Ockeloen, C.W, Clum, F, Slavotinek, A, Kuijpers, M.A.R, Dooijes, D, Kuijpers-Jagtman, A.M, Kleefstra, T, Carels, Carine

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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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Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype von Schirwani, S, Woods, E, Koolen, D.A, Ockeloen, C.W, Lynch, S.A, Kavanagh, K, Graham, J.M, Grand, K, Pierson, T.M, Chung, J.M, Balasubramanian, M

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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework von Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, L., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Jansen, S., Bon, B.W. van, Jonis, N., Ockeloen, C.W., Silfhout, A.V.V.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, B.B.A. de

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022) von Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Geneviéve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Wéber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein von Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lutje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denomme-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Genevieve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Weber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. el, Spitz, M.A., Piton, A., Gerard, B., Warde, M.T.A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogne, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. el, Spitz, M.A., Piton, A., Gerard, B., Warde, M.T.A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Polsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M.

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Solitary median maxillary central incisor syndrome von Scholtes, E, Kawamoto, T, Ockeloen, C.W, Kleefstra, T, Carels, Carine

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