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216 results

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Page 1
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. Among authors: van der donk kp, geurts van kessel a, van hagen jm, van ravenswaaij cm. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E; Genetic Risk and Outcome in Psychosis (GROUP) Consortium; Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA. Vrijenhoek T, et al. Among authors: van der stelt i, geurts van kessel a. Am J Hum Genet. 2008 Oct;83(4):504-10. doi: 10.1016/j.ajhg.2008.09.011. Am J Hum Genet. 2008. PMID: 18940311 Free PMC article.
Variation of CNV distribution in five different ethnic populations.
White SJ, Vissers LE, Geurts van Kessel A, de Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van de Vosse E, Breuning MH, Brunner HG, den Dunnen JT, Veltman JA. White SJ, et al. Among authors: geurts van kessel a, van de vosse e. Cytogenet Genome Res. 2007;118(1):19-30. doi: 10.1159/000106437. Cytogenet Genome Res. 2007. PMID: 17901696
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF. Veltman JA, et al. Among authors: geurts van kessel a, van bokhoven h. J Med Genet. 2004 Jun;41(6):425-32. doi: 10.1136/jmg.2004.018531. J Med Genet. 2004. PMID: 15173227 Free PMC article. No abstract available.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Among authors: van emst l, van leeuwen fn, geurts van kessel a, van gassen kl. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.
Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.
Bonne A, Vreede L, Kuiper RP, Bodmer D, Jansen C, Eleveld M, van Erp F, Arkesteijn G, Hoogerbrugge N, van Ravenswaaij C, Schoenmakers EF, Geurts van Kessel A. Bonne A, et al. Among authors: van erp f, geurts van kessel a, van ravenswaaij c. Cancer Genet Cytogenet. 2007 Nov;179(1):11-8. doi: 10.1016/j.cancergencyto.2007.07.005. Cancer Genet Cytogenet. 2007. PMID: 17981209
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. Weren RD, et al. Among authors: geurts van kessel a. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.
Buysse K, Beulen L, Gomes I, Gilissen C, Keesmaat C, Janssen IM, Derks-Willemen JJ, de Ligt J, Feenstra I, Bekker MN, van Vugt JM, Geurts van Kessel A, Vissers LE, Faas BH. Buysse K, et al. Among authors: van vugt jm, geurts van kessel a. Clin Biochem. 2013 Dec;46(18):1783-6. doi: 10.1016/j.clinbiochem.2013.07.020. Epub 2013 Aug 8. Clin Biochem. 2013. PMID: 23933476
216 results