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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Bruno DL, et al. Among authors: kooy rf. J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906. J Med Genet. 2010. PMID: 20452996
Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress.
Fransen E, Cassiers LLM, Chubar V, Gilles A, Van Rompaey V, van der Werf I, Van de Heyning P, Claes S, Sabbe B, Kooy RF, Van Den Eede F. Fransen E, et al. Among authors: kooy rf. Psychiatr Genet. 2023 Aug 1;33(4):134-144. doi: 10.1097/YPG.0000000000000339. Epub 2023 May 4. Psychiatr Genet. 2023. PMID: 37222222 Free PMC article.
Transgenic mouse model for the fragile X syndrome.
Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Kooy RF, et al. Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8844056
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: kooy rf. Am J Med Genet. 1999 May 28;84(3):245-9. doi: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10331601
Fragile X syndrome phenotype with normal FMR1 gene studies.
Clarke NF, Mowat D, Kooy RF, Reyniers E, Willemsen R. Clarke NF, et al. Among authors: kooy rf. Am J Med Genet A. 2004 Sep 1;129A(3):326-8. doi: 10.1002/ajmg.a.30194. Am J Med Genet A. 2004. PMID: 15326639 No abstract available.
156 results