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    Results: 1 to 20 of 198

    1.

    The amino-acid mutational spectrum of human genetic disease.

    Vitkup D, Sander C, Church GM.

    Genome Biol. 2003;4(11):R72. Epub 2003 Oct 30.

    PMID:
    14611658
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

    Cooper DN, Krawczak M.

    Hum Genet. 1990 Jun;85(1):55-74. Review.

    PMID:
    2192981
    [PubMed - indexed for MEDLINE]
    3.

    Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations.

    Kumar S, Suleski MP, Markov GJ, Lawrence S, Marco A, Filipski AJ.

    Genome Res. 2009 Sep;19(9):1562-9. Epub 2009 Jun 22.

    PMID:
    19546171
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Selective pressures at a codon-level predict deleterious mutations in human disease genes.

    Arbiza L, Duchi S, Montaner D, Burguet J, Pantoja-Uceda D, Pineda-Lucena A, Dopazo J, Dopazo H.

    J Mol Biol. 2006 May 19;358(5):1390-404. Epub 2006 Mar 15.

    PMID:
    16584746
    [PubMed - indexed for MEDLINE]
    5.
    6.

    How similar are amino acid mutations in human genetic diseases and evolution.

    Wu H, Ma BG, Zhao JT, Zhang HY.

    Biochem Biophys Res Commun. 2007 Oct 19;362(2):233-7. Epub 2007 Aug 2. Review.

    PMID:
    17681277
    [PubMed - indexed for MEDLINE]
    7.

    Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.

    Reumers J, Conde L, Medina I, Maurer-Stroh S, Van Durme J, Dopazo J, Rousseau F, Schymkowitz J.

    Nucleic Acids Res. 2008 Jan;36(Database issue):D825-9. Epub 2007 Dec 17.

    PMID:
    18086700
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

    Capriotti E, Calabrese R, Casadio R.

    Bioinformatics. 2006 Nov 15;22(22):2729-34. Epub 2006 Aug 7.

    PMID:
    16895930
    [PubMed - indexed for MEDLINE]
    Free Article
    9.

    Understanding human disease mutations through the use of interspecific genetic variation.

    Miller MP, Kumar S.

    Hum Mol Genet. 2001 Oct 1;10(21):2319-28.

    PMID:
    11689479
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

    Moilanen JS, Majamaa K.

    Mol Biol Evol. 2003 Aug;20(8):1195-210. Epub 2003 May 30.

    PMID:
    12777521
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Quantifying the intragenic distribution of human disease mutations.

    Miller MP, Parker JD, Rissing SW, Kumar S.

    Ann Hum Genet. 2003 Nov;67(Pt 6):567-79.

    PMID:
    14641244
    [PubMed - indexed for MEDLINE]
    13.

    Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

    Thomas PD, Kejariwal A.

    Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15398-403. Epub 2004 Oct 18.

    PMID:
    15492219
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

    Myhre R, Klungland H, Farrer MJ, Aasly JO.

    BMC Med Genet. 2008 Mar 21;9:19.

    PMID:
    18366718
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Computational and structural analysis of deleterious functional SNPs in ARNT oncogene.

    George Priya Doss C, Sethumadhavan R.

    Interdiscip Sci. 2009 Sep;1(3):220-8. Epub 2009 Aug 7.

    PMID:
    20640841
    [PubMed - indexed for MEDLINE]
    16.

    Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.

    Huang H, Winter EE, Wang H, Weinstock KG, Xing H, Goodstadt L, Stenson PD, Cooper DN, Smith D, AlbĂ  MM, Ponting CP, Fechtel K.

    Genome Biol. 2004;5(7):R47. Epub 2004 Jun 28.

    PMID:
    15239832
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Spectrum of disease-causing mutations in protein secondary structures.

    Khan S, Vihinen M.

    BMC Struct Biol. 2007 Aug 29;7:56.

    PMID:
    17727703
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases.

    Kondrashov AS.

    Hum Mutat. 2003 Jan;21(1):12-27.

    PMID:
    12497628
    [PubMed - indexed for MEDLINE]
    19.

    Untangling the effects of codon mutation and amino acid exchangeability.

    Yampolsky LY, Stoltzfus A.

    Pac Symp Biocomput. 2005:433-44.

    PMID:
    15759648
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms.

    Majewski J, Ott J.

    Gene. 2003 Feb 27;305(2):167-73.

    PMID:
    12609737
    [PubMed - indexed for MEDLINE]

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