Search Results - "de Brouwer, APM"

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly by 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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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome by 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

“…Background: A new syndrome has been recognised following thorough analysis of patients with a terminal submicroscopic subtelomeric deletion of chromosome 9q…”
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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 by de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans

“…Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and…”
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UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome by Nascimento, Rafaella M.P., Otto, Paulo A., de Brouwer, Arjan P.M., Vianna-Morgante, Angela M.

“…We report a mutation of UBE2A/HR6A, which encodes a ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel…”
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH by Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

“…Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome…”
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ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation by Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J.G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gécz, Jozef, van Reeuwijk, Jeroen, Nabuurs, Sander B., de Vries, Bert B.A., Hamel, Ben C.J., de Brouwer, Arjan P.M., van Bokhoven, Hans

“…Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation…”
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GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations by Kalay, Ersan, Caylan, Refik, Kremer, Hannie, de Brouwer, Arjan P.M., Karaguzel, Ahmet

“…Mutations in the connexin 26 gene ( GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so…”
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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome by KALAY, E, DE BROUWER, A. P. M, BRUNNER, H. G, KREMER, H, CAYLAN, R, NABUURS, S. B, WOLLNIK, B, KARAGUZEL, A, HEISTER, J. G. A. M, ERDOL, H, CREMERS, F. P. M, CREMERS, C. W. R. J

“…Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region…”
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Screening of ARX in mental retardation families : consequences for the strategy of molecular diagnosis by POIRIER, K, LACOMBE, D, CHELLY, J, BIENVENU, T, GILBERT-DUSSARDIER, B, RAYNAUD, M, DESPORTES, V, DE BROUWER, A. P. M, MORAINE, C, FRYNS, J. P, ROPERS, H. H, BEIDJORD, C

“…Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked…”
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Determination of the Stability of the Noncovalent Phospholipid Transfer Protein−Lipid Complex by Electrospray Time-of-Flight Mass Spectrometry by de Brouwer, A. P. M, Versluis, C, Westerman, J, Roelofsen, B, Heck, A. J. R, Wirtz, K. W. A

“…Phosphatidylcholine transfer protein (PC-TP) containing different molecular species of PC and phosphatidylinositol transfer protein α (PI-TPα) containing…”
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Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family by DE BROUWER, Arjan P. M, PENNINGS, Ronald J. E, KIMBERLING, William J, CREMERS, Frans P. M, CREMERS, Cor W. R. J, KREMER, Hannie, ROETERS, Marjolijn, VAN HAUWE, Peter, ASTUTO, Lisa M, HOEFSLOOT, Lies H, HUYGEN, Patrick L. M, VAN DEN HELM, Bellinda, DEUTMAN, August F, BORK, Julie M

“…We have ascertained a multi-generation family with apparent autosomal recessive non-syndromic childhood hearing loss (DFNB). Failure to demonstrate linkage in…”
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Clofibrate-Induced Relocation of Phosphatidylcholine Transfer Protein to Mitochondria in Endothelial Cells by de Brouwer, A.P.M., Westerman, J., Kleinnijenhuis, A., Bevers, L.E., Roelofsen, B., Wirtz, K.W.A.

“…The phosphatidylcholine transfer protein (PC-TP) is a specific transporter of phosphatidylcholine (PC) between membranes. To get more insight into its…”
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Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3 by de Brouwer, Arjan P.M., Kunst, Hendrikus P.M., Krebsova, Alice, van Asseldonk, Karin, Reis, André, Snoeckx, Rik L., Van Camp, Guy, Cremers, Cor W.R.J., Cremers, Frans P.M., Kremer, Hannie

“…Previously, the DFNA21 locus was positioned telomeric to the DFNA13 locus based on testing of candidate loci. One family member in this region did not carry…”
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The binding of phosphatidylcholine to the phosphatidylcholine transfer protein: affinity and role in folding by de Brouwer, A.P.M, Bouma, B, van Tiel, C.M, Heerma, W, Brouwers, J.F.H.M, Bevers, L.E, Westerman, J, Roelofsen, B, Wirtz, K.W.A

“…Bovine liver phosphatidylcholine transfer protein (PC-TP) has been expressed in Escherichia coli and purified to homogeneity from the cytosol fraction at a…”
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