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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: boogaard m. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.
Gardiner SL, Harder AVE, Campman YJM, Trompet S, Gussekloo J, van Belzen MJ, Boogaard MW, Roos RAC, Jansen IE, Pijnenburg YAL, Scheltens P, van der Flier WM, Aziz NA. Gardiner SL, et al. Among authors: boogaard mw. Neurobiol Aging. 2019 Jan;73:230.e9-230.e17. doi: 10.1016/j.neurobiolaging.2018.09.007. Epub 2018 Sep 15. Neurobiol Aging. 2019. PMID: 30314815
Huntingtin gene repeat size variations affect risk of lifetime depression.
Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA. Gardiner SL, et al. Among authors: boogaard mw. Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1. Transl Psychiatry. 2017. PMID: 29225330 Free PMC article. Review.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Among authors: boogaard mw. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688
Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.
Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Comijs HC, Penninx BWJH, van der Mast RC, Roos RAC, Aziz NA. Gardiner SL, et al. Among authors: boogaard mw. Transl Psychiatry. 2017 Jun 6;7(6):e1143. doi: 10.1038/tp.2017.116. Transl Psychiatry. 2017. PMID: 28585930 Free PMC article.
301 results