खोज परिणाम - van Bon, Bregje W.

Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments द्वारा Morison, Lottie D., Braden, Ruth O., Amor, David J., Brignell, Amanda, van Bon, Bregje W. M., Morgan, Angela T.

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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient द्वारा Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.

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Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene द्वारा Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism द्वारा van Eyk, Clare L., Corbett, Mark A., Gardner, Alison, van Bon, Bregje W., Broadbent, Jessica L., Harper, Kelly, MacLennan, Alastair H., Gecz, Jozef

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder द्वारा Morgan, Angela, Braden, Ruth, Wong, Maggie M. K., Colin, Estelle, Amor, David, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E., van Bon, Bregje W.

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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome द्वारा de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome द्वारा Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study द्वारा Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function द्वारा Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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Clinical delineation of SETBP1 haploinsufficiency disorder द्वारा Jansen, Nadieh A., Braden, Ruth O., Srivastava, Siddharth, Otness, Erin F., Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A., Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M. K., Whalen, Sandra, Fisher, Simon E., Morgan, Angela T., van Bon, Bregje W.

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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome द्वारा White, Janson J., Mazzeu, Juliana F., Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., van Bon, Bregje W.M., Sutton, V. Reid, Lupski, James R., Brunner, Han G., Carvalho, Claudia M.B.

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Homozygosity mapping in outbred families with mental retardation द्वारा Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Joris A, van Bokhoven, Hans, de Brouwer, Arjan P M, de Vries, Bert B A

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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability द्वारा Pagan, Cecile, Botros, Hany Goubran, Poirier, Karine, Dumaine, Anne, Jamain, Stéphane, Moreno, Sarah, de Brouwer, Arjan, Van Esch, Hilde, Delorme, Richard, Launay, Jean-Marie, Tzschach, Andreas, Kalscheuer, Vera, Lacombe, Didier, Briault, Sylvain, Laumonnier, Frédéric, Raynaud, Martine, van Bon, Bregje W, Willemsen, Marjolein H, Leboyer, Marion, Chelly, Jamel, Bourgeron, Thomas

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder द्वारा Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID द्वारा van Bon, Bregje W.M., Coe, Bradley P., Bernier, Raphael, Green, Cherie, Gerdts, Jennifer, Witherspoon, Kali, Kleefstra, Tjitske, Willemsen, Marjolein H., Kumar, Raman, Bosco, Paolo, Fichera, Marco, Li, Deana, Amaral, David, Cristofoli, Francesca, Peeters, Hilde, Haan, Eric, Romano, Corrado, Mefford, Heather C., Scheffer, Ingrid, Gecz, Jozef, de Vries, Bert B.A., Eichler, Evan E.

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Cantú Syndrome Is Caused by Mutations in ABCC9 द्वारा van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome द्वारा White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

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Mutations in MED12 Cause X-Linked Ohdo Syndrome द्वारा Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.

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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria द्वारा van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J. M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A. L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B. A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W. E.

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder द्वारा Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H

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