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Page 1
Novel genetic causes for cerebral visual impairment.
Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB. Bosch DG, et al. Eur J Hum Genet. 2016 May;24(5):660-5. doi: 10.1038/ejhg.2015.186. Epub 2015 Sep 9. Eur J Hum Genet. 2016. PMID: 26350515 Free PMC article.
DNAs of 25 patients with CVI and intellectual disability, but without acquired (eg, perinatal) damage, were investigated by whole-exome sequencing. The data were analyzed for de novo, autosomal-recessive, and X-linked variants, and subsequently classified into known, candi …
DNAs of 25 patients with CVI and intellectual disability, but without acquired (eg, perinatal) damage, were investigated by whole-exome sequ …
Clinical significance of de novo and inherited copy-number variation.
Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB. Vulto-van Silfhout AT, et al. Hum Mutat. 2013 Dec;34(12):1679-87. doi: 10.1002/humu.22442. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038936
We detected 1,663 rare CNVs in 1,388 patients (25.1%; range 0-5 per patient) of which 437 occurred de novo and 638 were inherited. The detected CNVs were analyzed for various characteristics, gene content, and genotype-phenotype correlations. Patients with severe phenotype …
We detected 1,663 rare CNVs in 1,388 patients (25.1%; range 0-5 per patient) of which 437 occurred de novo and 638 were inherited. Th …
The clustering of functionally related genes contributes to CNV-mediated disease.
Andrews T, Honti F, Pfundt R, de Leeuw N, Hehir-Kwa J, Vulto-van Silfhout A, de Vries B, Webber C. Andrews T, et al. Genome Res. 2015 Jun;25(6):802-13. doi: 10.1101/gr.184325.114. Epub 2015 Apr 17. Genome Res. 2015. PMID: 25887030 Free PMC article.
We demonstrate that the simultaneous disruption of multiple functionally related genes is a frequent and significant characteristic of de novo CNVs in patients with developmental disorders (P = 1 10(-3)). ...De novo CNVs were more likely to affect functional cluster …
We demonstrate that the simultaneous disruption of multiple functionally related genes is a frequent and significant characteristic of de …
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Feenstra I, et al. Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712853 Free PMC article.
The size of our own cohort enabled us to relate the presence of an imbalance to the clinical features of the patients by using a scoring system, the De Vries criteria, that indicates the complexity of the phenotype. The median De Vries score was signif …
The size of our own cohort enabled us to relate the presence of an imbalance to the clinical features of the patients by using a scoring sys …
Diagnostic genome profiling in mental retardation.
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.
Alterations were validated by fluorescence in situ hybridization and/or multiplex ligation-dependent probe amplification, and parents were tested to determine de novo occurrence. Reproducible DNA copy-number changes were present in 97% of patients. The majority of these al …
Alterations were validated by fluorescence in situ hybridization and/or multiplex ligation-dependent probe amplification, and parents were t …
Tocilizumab Dose Tapering Based on a Model-Based Algorithm is Feasible in Clinical Practice: A Short Communication.
Hooijberg F, Layegh Z, Leeuw M, Boekel L, van den Berg SPH, Ruwaard J, Bastida C, Huitema ADR, Pel S, Elkayam O, de Vries A, Nurmohamed M, Rispens T, Dorlo TPC, Wolbink G. Hooijberg F, et al. Ther Drug Monit. 2024 Jun 1;46(3):410-414. doi: 10.1097/FTD.0000000000001168. Epub 2024 Jan 24. Ther Drug Monit. 2024. PMID: 38287880 Clinical Trial.
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR. Nowakowska BA, et al. Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915152 Free PMC article.
However, this risk is 50% if one of the parents is carrier of a balanced insertional translocation (IT). The apparently de novo imbalance in a patient is then the consequence of the unbalanced transmission of a derivative chromosome involved in an IT. ...This risk estimate …
However, this risk is 50% if one of the parents is carrier of a balanced insertional translocation (IT). The apparently de novo imbal …
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.
Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB. Vulto-van Silfhout AT, et al. Mol Syndromol. 2012 Apr;2(6):245-250. doi: 10.1159/000336191. Epub 2012 Feb 10. Mol Syndromol. 2012. PMID: 22822384 Free PMC article.
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 a patient with Asperger syndrome. ...
De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain …
26 results