A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome von Day, R, Beckett, B, Donnai, D, Fryer, A, Heidenblad, M, Howard, P, Kerr, B, Mansour, S, Maye, U, McKee, S, Mohammed, S, Sweeney, E, Tassabehji, M, De Vries, BBA, Clayton-Smith, J

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP von Helsmoortel, Céline, Vulto-van Silfhout, Anneke T, Coe, Bradley P, Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo L, Willemsen, Marjolein H, Vissers, Lisenka E L M, Yntema, Helger G, Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B A, Kleefstra, Tjitske, Kooy, R Frank, Eichler, Evan E, Van der Aa, Nathalie

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome von Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans

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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism von Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijt, L., Surowy, H. M., de Vries, B. B. A., Wieland, T., Engels, H., Strom, T. M., Kleefstra, T., Wieczorek, D.

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome von Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts

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Diagnostic Genome Profiling in Mental Retardation von de Vries, Bert B.A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E.L.M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H.L.P.G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M.A., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Brunner, Han G., Veltman, Joris A.

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome von Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism von de Vries, Bert B A, Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco, Schinzel, Albert, Baumer, Alessandra, Anderlid, Britt-Marie, Schoumans, Jacqueline, Knoers, Nine V, van Kessel, Ad Geurts, Sistermans, Erik A, Veltman, Joris A, Brunner, Han G

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes von Bruno, Damien L, Anderlid, Britt-Marie, Lindstrand, Anna, van Ravenswaaij-Arts, Conny, Ganesamoorthy, Devika, Lundin, Johanna, Martin, Christa Lese, Douglas, Jessica, Nowak, Catherine, Adam, Margaret P, Kooy, R Frank, Van der Aa, Nathalie, Reyniers, Edwin, Vandeweyer, Geert, Stolte-Dijkstra, Irene, Dijkhuizen, Trijnie, Yeung, Alison, Delatycki, Martin, Borgström, Birgit, Thelin, Lena, Cardoso, Carlos, van Bon, Bregje, Pfundt, Rolph, de Vries, Bert B A, Wallin, Anders, Amor, David J, James, Paul A, Slater, Howard R, Schoumans, Jacqueline

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism von Vandeweyer, G, Helsmoortel, C, Van Dijck, A, Vulto-van Silfhout, AT, Coe, BP, Bernier, R, Gerdts, J, Rooms, L, van den Ende, J, Bakshi, M, Wilson, M, Nordgren, A, Hendon, LG, Abdulrahman, OA, Romano, C, De Vries, BBA, Kleefstra, T, Eichler, EE, Van der Aa, N, Kooy, RF

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene von Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome von Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy

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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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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders von Gillentine, Madelyn A., Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Vissers, Lisenka E. L. M., Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A., Bhat, Gifty, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K., White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L. Manace, Mckee, Shane, Mirzaa, Ghayda M., Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities von Vissers, Lisenka E.L.M., de Vries, Bert B.A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, Straatman, Huub, van der Vliet, Walter, Huys, Erik H.L.P.G., van Rijk, Anke, Smeets, Dominique, van Ravenswaaij-Arts, Conny M.A., Knoers, Nine V., van der Burgt, Ineke, de Jong, Pieter J., Brunner, Han G., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Veltman, Joris A.

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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly von van Bon, BWM, Hoischen, A, Hehir-Kwa, J, de Brouwer, APM, Ruivenkamp, C, Gijsbers, ACJ, Marcelis, CL, de Leeuw, N, Veltman, JA, Brunner, HG, de Vries, BBA

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Telomeres: a diagnosis at the end of the chromosomes von De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-Arts, C

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Mutations in TITF-1 are associated with benign hereditary chorea von Breedveld, Guido J., van Dongen, Jeroen W.F., Danesino, Cesare, Guala, Andrea, Percy, Alan K., Dure, Leon S., Harper, Peter, Lazarou, Lazarus P., van der Linde, Herma, Joosse, Marijke, Grüters, Annette, MacDonald, Marcy E., de Vries, Bert B.A., Arts, Willem Frans M., Oostra, Ben A., Krude, Heiko, Heutink, Peter

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome von Kleefstra, T, Smidt, M, Banning, M J G, Oudakker, A R, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E A, Hamel, B C J, de Bruijn, D, Fryns, J-P, Yntema, H G, Brunner, H G, de Vries, B B A, van Bokhoven, H

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist von de Vries, B B A, White, S M, Knight, S J L, Regan, R, Homfray, T, Young, I D, Super, M, McKeown, C, Splitt, M, Quarrell, O W J, Trainer, A H, Niermeijer, M F, Malcolm, S, Flint, J, Hurst, J A, Winter, R M

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