Search Results - "SCRIVER, C. R"

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    Monogenic traits are not simple: lessons from phenylketonuria by Scriver, Charles R., Waters, Paula J.

    Published in Trends in Genetics (01-07-1999)
    “…The classification of genetic disease into chromosomal, monogenic and multifactorial categories is an oversimplification. Phenylketonuria (PKU) is a classic…”
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    Book Review Journal Article
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    After the genome—the phenome? by Scriver, C. R.

    Published in Journal of inherited metabolic disease (01-01-2004)
    “…What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded…”
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    Journal Article Conference Proceeding
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    What we know that could influence future treatment of phenylketonuria by Sarkissian, C. N, Gámez, A, Scriver, C. R

    Published in Journal of inherited metabolic disease (01-02-2009)
    “…Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism that can result in impaired postnatal…”
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    Journal Article Conference Proceeding
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    Proof of "disease causing" mutation by Cotton, RGH, Scriver, CR

    Published in Human mutation (1998)
    “…Mutation has been defined (King and Stansfield, 1990) i) a process by which a gene undergoes structural change ii) a modified gene resulting from mutation;…”
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    Journal Article
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    Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools by MITCHELL, J. J, CAPUA, A, CLOW, C, SCRIVER, C. R

    Published in American journal of human genetics (01-10-1996)
    “…Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and beta-thalassemia diseases, have…”
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    Journal Article
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    Translating knowledge into practice in the post-genome era by SCRIVER, C. R

    Published in Acta pædiatrica (Oslo) (01-03-2004)
    “…The Human Genome Project is "completed", but it is only a beginning in the understanding of genomic structure and function. A "human phenome project" is…”
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    Journal Article
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    Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations by Kayaalp, Emre, Treacy, Eileen, Waters, Paula J., Byck, Susan, Nowacki, Piotr, Scriver, Charles R.

    Published in American journal of human genetics (01-12-1997)
    “…We analyzed correlations between mutant genotypes at the human phenylalanine hydroxylase locus (gene symbol PAH) and the corresponding hyperphenylalaninemia…”
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    Journal Article
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    Garrod's foresight; our hindsight by Scriver, C. R.

    Published in Journal of inherited metabolic disease (01-04-2001)
    “…Archibald Edward Garrod introduced a paradigm, new for its day, in medicine: Biochemistry is dynamic and different from the static nature of organic chemistry…”
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    Journal Article Conference Proceeding
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    Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice by Qiu, Z.Q, Travers, R, Rauch, F, Glorieux, F.H, Scriver, C.R, Tenenhouse, H.S

    Published in Bone (New York, N.Y.) (2004)
    “…X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia and arises from mutations in the Phex and PHEX genes in mice ( Hyp) and humans,…”
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    Journal Article
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    Does hereditary metabolic disease modulate senescence and ageing? by Scriver, C. R.

    Published in Journal of inherited metabolic disease (01-05-2002)
    “…Hereditary metabolic diseases in the context of evolutionary biology elicit interesting questions about ageing and senescence: Will persons successfully…”
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    Journal Article
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    Expression and molecular analysis of mutations in prolidase deficiency by LEDOUX, P, SCRIVER, C. R, HECHTMAN, P

    Published in American journal of human genetics (01-11-1996)
    “…Prolidase (E.C.3.4.13.9) cleaves iminodipeptides. Prolidase deficiency (PD; McKusick 170100) is an autosomal recessive disorder with highly variable…”
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    Journal Article
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    Guidelines and recommendations for content, structure, and deployment of mutation databases by Scriver, C.R., Nowacki, P.M., Lehväslaiho, H.

    Published in Human mutation (1999)
    “…These Guidelines recognize the need for annotated online mutation databases documenting allelic variation (both pathogenic and phenotype modifying, and also…”
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    Journal Article
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    Human genetics: lessons from Quebec populations by Scriver, C R

    “…The population of Quebec, Canada (7.3 million) contains approximately 6 million French Canadians; they are the descendants of approximately 8500 permanent…”
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    Journal Article
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    Genomics, mutations and the Internet: The naming and use of parts by Scriver, C. R., Nowacki, P. M.

    Published in Journal of inherited metabolic disease (01-06-1999)
    “…Mutations are the source of genetic variation and diversity; by their effect, some are neutral, others are pathogenic. In contemporary genetics, mutations…”
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    Journal Article Conference Proceeding
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    PAH Mutation Analysis Consortium Database: A Database for Disease-Producing and Other Allelic Variation at the Human PAH Locus by Hoang, Liem, Byck, Susan, Prevost, Lynne, Scriver, Charles R.

    Published in Nucleic acids research (01-01-1996)
    “…The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs…”
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    Journal Article