Search Results - "VELTMAN, J. A"

Disease gene discovery in male infertility: past, present and future by Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.

“…Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of…”
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability by Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H, Riazuddin, S

“…Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the…”
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene by 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

“…Background: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and…”
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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy by Friedman, J I, Vrijenhoek, T, Markx, S, Janssen, I M, van der Vliet, W A, Faas, B H W, Knoers, N V, Cahn, W, Kahn, R S, Edelmann, L, Davis, K L, Silverman, J M, Brunner, H G, van Kessel, A Geurts, Wijmenga, C, Ophoff, R A, Veltman, J A

“…A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other…”
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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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Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability by Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D., Carss, K., Raymond, F. L., O’Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H., Riazuddin, S.

“…This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of…”
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Pathogenic or not? Assessing the clinical relevance of copy number variants by Hehir-Kwa, JY, Pfundt, R, Veltman, JA, de Leeuw, N

“…The availability of commercially produced genomic microarrays has resulted in the wide spread implementation of genomic microarrays, often as a first‐tier…”
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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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De Novo Mutations Reflect Development and Aging of the Human Germline by Goldmann, J.M., Veltman, J.A., Gilissen, C.

“…Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, whole-genome…”
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Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs by Krabbenborg, L., Schieving, J., Kleefstra, T., Vissers, L.E.L.M., Willemsen, M.A., Veltman, J.A., van der Burg, S.

“…As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient…”
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Physiological workload reactions to increasing levels of task difficulty by VELTMAN, J. A., GAILLARD, A. W. K.

“…The sensitivity of physiological measures to mental workload was investigated in a flight simulator. Twelve pilots had to fly through a tunnel with varying…”
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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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Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease by Plantinga, TS, Arts, P, Knarren, GH, Mulder, AH, Wakelkamp, IM, Hermus, AR, Joosten, LA, Netea, MG, Bisschop, PH, Herder, WW, Beijers, HJ, Bruin, IJ, Gilissen, C, Veltman, JA, Hoischen, A, Smit, JW, Netea‐Maier, RT

“…Agranulocytosis is a rare and serious adverse effect of antithyroid drugs, with unknown etiology. The present study aimed to uncover genetic susceptibility and…”
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Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress by Sie, A.S., Prins, J.B., van Zelst-Stams, W.A.G., Veltman, J.A., Feenstra, I., Hoogerbrugge, N.

“…The Radboud University Medical Center was among the first to implement two‐step exome sequencing in clinical genetic diagnostics. This study is the first to…”
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The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma by Bralten, L B C, Gravendeel, A M, Kloosterhof, N K, Sacchetti, A, Vrijenhoek, T, Veltman, J A, van den Bent, M J, Kros, J M, Hoogenraad, C C, Sillevis Smitt, P A E, French, P J

“…Genomic translocations have been implicated in cancer. In this study, we performed a screen for genetic translocations in gliomas based on exon-level…”
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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia by Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A

“…Abstract STUDY QUESTION Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER Exome sequencing in 15 cases of unexplained…”
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Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders by Oud, M S, Houston, B J, Volozonoka, L, Mastrorosa, F K, Holt, G S, Alobaidi, B K S, deVries, P F, Astuti, G, Ramos, L, Mclachlan, R I, O'Bryan, M K, Veltman, J A, Chemes, H E, Sheth, H

“…What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders? We identified high confidence disease-causing…”
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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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De novo mutations in children born after medical assisted reproduction by Smits, R M, Xavier, M J, Oud, M S, Astuti, G D N, Meijerink, A M, de Vries, P F, Holt, G S, Alobaidi, B K S, Batty, L E, Khazeeva, G, Sablauskas, K, Vissers, L E L M, Gilissen, C, Fleischer, K, Braat, D D M, Ramos, L, Veltman, J A

“…Abstract STUDY QUESTION Are there more de novo mutations (DNMs) present in the genomes of children born through medical assisted reproduction (MAR) compared to…”
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Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype by Rao, P N, Li, W, Vissers, L E L M, Veltman, J A, Ophoff, R A

“…The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to…”
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