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Page 1
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.
Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR. Chong SS, et al. Among authors: sillence d. Hum Mol Genet. 1997 Feb;6(2):301-9. doi: 10.1093/hmg/6.2.301. Hum Mol Genet. 1997. PMID: 9063751
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Ilkovski B, et al. Among authors: sillence d. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20. Hum Mol Genet. 2015. PMID: 26293662 Free PMC article.
Type 2 Gaucher disease: the collodion baby phenotype revisited.
Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, Tayebi N, Sidransky E. Stone DL, et al. Among authors: sillence d. Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6. doi: 10.1136/fn.82.2.f163. Arch Dis Child Fetal Neonatal Ed. 2000. PMID: 10685993 Free PMC article.
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D. Ho MS, et al. Among authors: sillence do. Hum Mol Genet. 2007 May 15;16(10):1201-15. doi: 10.1093/hmg/ddm067. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403716
Genetic homogeneity of cartilage-hair hypoplasia.
Sulisalo T, van der Burgt I, Rimoin DL, Bonaventure J, Sillence D, Campbell JB, Chitayat D, Scott CI, de la Chapelle A, Sistonen P, et al. Sulisalo T, et al. Among authors: sillence d. Hum Genet. 1995 Feb;95(2):157-60. doi: 10.1007/BF00209394. Hum Genet. 1995. PMID: 7860061
211 results