Search Results - "De Vries, B. B. A."

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID by 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

“…Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A ( DYRK1A ) maps to the Down syndrome critical region; copy number increase of this gene is…”
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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis by Vissers, Lisenka E L M, de Vries, Bert B A, Veltman, Joris A

“…Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital…”
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The Genetics of Intellectual Disability by Jansen, Sandra, Vissers, Lisenka E L M, de Vries, Bert B A

“…Intellectual disability (ID) has a prevalence of ~2-3% in the general population, having a large societal impact. The underlying cause of ID is largely of…”
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SOD1 is a synthetic-lethal target in PPM1D -mutant leukemia cells by Zhang, Linda, Hsu, Joanne I, Braekeleer, Etienne D, Chen, Chun-Wei, Patel, Tajhal D, Martell, Alejandra G, Guzman, Anna G, Wohlan, Katharina, Waldvogel, Sarah M, Uryu, Hidetaka, Tovy, Ayala, Callen, Elsa, Murdaugh, Rebecca L, Richard, Rosemary, Jansen, Sandra, Vissers, Lisenka, de Vries, Bert B A, Nussenzweig, Andre, Huang, Shixia, Coarfa, Cristian, Anastas, Jamie, Takahashi, Koichi, Vassiliou, George, Goodell, Margaret A

“…The DNA damage response is critical for maintaining genome integrity and is commonly disrupted in the development of cancer. PPM1D (protein phosphatase Mg /Mn…”
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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition by Arbogast, Thomas, Iacono, Giovanni, Chevalier, Claire, Afinowi, Nurudeen O, Houbaert, Xander, van Eede, Matthijs C, Laliberte, Christine, Birling, Marie-Christine, Linda, Katrin, Meziane, Hamid, Selloum, Mohammed, Sorg, Tania, Nadif Kasri, Nael, Koolen, David A, Stunnenberg, Henk G, Henkelman, R Mark, Kopanitsa, Maksym, Humeau, Yann, De Vries, Bert B A, Herault, Yann

“…Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The…”
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome by Veltman, Joris A, Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A

“…Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected…”
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M

“…In this study, exome sequencing yielded a genetic diagnosis in 16% of patients who had previously been evaluated to rule out known causes of intellectual…”
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability by Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian

“…The authors analyzed the exome sequences of 2,104 intellectual disability patients and their parents. They identified 10 novel candidate genes associated with…”
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome by 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

“…CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping…”
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome by 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

“…A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental…”
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Cantú Syndrome Is Caused by Mutations in ABCC9 by 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

“…Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an…”
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies by VISSERS, L. E. L. M, STANKIEWICZ, P, BI, W, GEURTS VAN KESSEL, A, LUPSKI, J. R, VELTMAN, J. A, YATSENKO, S. A, CRAWFORD, E, CRESWICK, H, PROUD, V. K, DE VRIES, B. B. A, PFUNDT, R, MARCELIS, C. L. M, ZACKOWSKI, J

“…Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought…”
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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function by Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortés-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A, Caldecott, Keith W

“…Keith Caldecott, Bert de Vries, Sherif El-Khamisy, Gianpiero Cavalleri and colleagues identify homozygous TDP2 mutations in individuals with intellectual…”
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

“…Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo)…”
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture by Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel

“…Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent…”
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Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome by Bouman, Arianne, Bouwmeester, Romy N., Vlimmeren, Leo A., Burger, Pauline, Mandel, Jean‐Louis, Vries, Bert B. A., Kleuver, Marinus, Klein, Willemijn M., Geelen, Joyce M., Koolen, David A.

“…The Koolen‐de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features,…”
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by van der Sanden, Bart P G H, Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A, Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T R M, Kleefstra, Tjitske, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P, Stevens, Servi J, van den Wijngaard, Arthur, Brunner, Han G, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel R, Vissers, Lisenka E L M

“…Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better…”
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Characterization of a recurrent 15q24 microdeletion syndrome by Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, Coppola, Antonietta, Regan, Regina, Price, Sue M., Knoers, Nine V., Eis, Peggy S., Brunner, Han G., Hennekam, Raoul C., Knight, Samantha J.L., de Vries, Bert B.A., Zuffardi, Orsetta, Eichler, Evan E.

“…We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution…”
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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders by van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

“…Purpose The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We…”
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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay by Ha, Thoa, Morgan, Angela, Bartos, Meghan N., Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B., Gaspar, Harald, Kopps, Anna M., Rieubland, Claudine, Hurst, Anna C. E., Amor, David J., Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L., Vincent, Marie, Vries, Bert B. A., Walsh, Matthew B., Wechsler, Stephanie Burns, Zweier, Christiane, Schnur, Rhonda E., Guillen Sacoto, Maria J., Margot, Henri, Masotto, Barbara, Palafoll, Maria Irene Valenzuela, Nawaz, Urwah, Voineagu, Irina, Slavotinek, Anne

“…The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1…”
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