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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: knight sj. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
Genotype prediction in the fragile X syndrome.
Hirst MC, Nakahori Y, Knight SJ, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM, Fryns JP, Davies KE. Hirst MC, et al. Among authors: knight sj. J Med Genet. 1991 Dec;28(12):824-9. doi: 10.1136/jmg.28.12.824. J Med Genet. 1991. PMID: 1757957 Free PMC article.
Origins of the fragile X syndrome mutation.
Hirst MC, Knight SJ, Christodoulou Z, Grewal PK, Fryns JP, Davies KE. Hirst MC, et al. Among authors: knight sj. J Med Genet. 1993 Aug;30(8):647-50. doi: 10.1136/jmg.30.8.647. J Med Genet. 1993. PMID: 8411050 Free PMC article.
Molecular-cytogenetic detection of a deletion of 1p36.3.
Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J. Giraudeau F, et al. J Med Genet. 1997 Apr;34(4):314-7. doi: 10.1136/jmg.34.4.314. J Med Genet. 1997. PMID: 9138156 Free PMC article.
244 results