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

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum by 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.

“…De novo missense mutations and in‐frame coding deletions in the X‐linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin…”
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ARID1B-related disorder in 87 adults: Natural history and self-sustainability by van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.

“…ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been…”
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W01-03 - Neuropsychological phenotyping of genetic syndromes by Egger, J.I.M, Koolen, D, Wingbermühle, E, Verhoeven, W.M.A, Kleefstra, T, De Vries, B.B.A

“…Introduction Over the past years several novel microdeletion syndromes have been reported that may be associated with a specific pattern of psychological…”
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome by Brunner, Han G, Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, de Vries, Bert B B A

“…Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the…”
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Klinefelter's syndrome and Prader-Willi syndrome: a rare combination by Verhoeven, W M A, de Vries, B B A, Duffels, S J H, Egger, J I M, Noordam, C, Tuinier, S

“…In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination…”
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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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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females by Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

“…MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and…”
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome by van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A

“…Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate…”
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De novo and biallelic DEAF1 variants cause a phenotypic spectrum by Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

“…To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1…”
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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 by 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.

“…De novo variants in the gene encoding cyclin‐dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID)…”
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Telomeres: a diagnosis at the end of the chromosomes by De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-Arts, C

“…In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500…”
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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities by Feenstra, I., Fang, J., Koolen, D.A., Siezen, A., Evans, C., Winter, R.M., Lees, M.M., Riegel, M., de Vries, B.B.A., Van Ravenswaaij, C.M.A., Schinzel, A.

“…During recent years a considerable improvement in diagnostic techniques has enabled cytogeneticists to find more and smaller chromosomal aberrations. However,…”
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A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome by Vulto-van Silfhout, A.T., de Brouwer, A.P.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.

“…De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in…”
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FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics by de Vries, B B A, Severijnen, L-A, Jacobs, A, Olmer, R, Halley, D J J, Oostra, B A, Willemsen, R

“…The fragile X syndrome is a common cause of familial mental retardation with an estimated prevalence of 1/4000-1/6000 for males in western countries. 1- 3 This…”
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DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene by van den Ouweland, A M, de Vries, B B, Bakker, P L, Deelen, W H, de Graaff, E, van Hemel, J O, Oostra, B A, Niermeijer, M F, Halley, D J

“…The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern…”
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