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Page 1
Dynamic mutation loci: allele distributions in different populations.
Richards RI, Crawford J, Narahara K, Mangelsdorf M, Friend K, Staples A, Denton M, Easteal S, Hori TA, Kondo I, Jenkins T, Goldman A, Panich V, Ferakova E, Sutherland GR. Richards RI, et al. Among authors: mangelsdorf m. Ann Hum Genet. 1996 Sep;60(5):391-400. doi: 10.1111/j.1469-1809.1996.tb00437.x. Ann Hum Genet. 1996. PMID: 8912792
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: mangelsdorf me. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Sarafidou T, Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley P, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gécz J; European Collaborative Consortium for the Study of ADLTE. Sarafidou T, et al. Among authors: mangelsdorf m. Genomics. 2004 Jul;84(1):69-81. doi: 10.1016/j.ygeno.2003.12.017. Genomics. 2004. PMID: 15203205
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.
Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Doggett NA, et al. Sood R, et al. Among authors: mangelsdorf m. Genomics. 1997 May 15;42(1):83-95. doi: 10.1006/geno.1997.4629. Genomics. 1997. PMID: 9177779
32 results