Search Results - "SCRIVER, C. R"
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Monogenic traits are not simple: lessons from phenylketonuria
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?
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
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
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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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools
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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Translating knowledge into practice in the post-genome era
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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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
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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A rapid procedure for extracting genomic DNA from leukocytes
Published in Nucleic acids research (25-01-1991)Get full text
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Garrod's foresight; our hindsight
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
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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Does hereditary metabolic disease modulate senescence and ageing?
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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Expression and molecular analysis of mutations in prolidase deficiency
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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Guidelines and recommendations for content, structure, and deployment of mutation databases
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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Human genetics: lessons from Quebec populations
Published in Annual review of genomics and human genetics (01-01-2001)“…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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An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria
Published in The Journal of clinical investigation (15-06-1998)Get full text
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The HUGO Mutation Database Initiative
Published in Science (American Association for the Advancement of Science) (02-01-1998)Get full text
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Genomics, mutations and the Internet: The naming and use of parts
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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Mutation analysis in metabolic (and other genetic) disease: how soon, how useful
Published in European journal of pediatrics (01-12-2000)Get full text
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PAH Mutation Analysis Consortium Database: A Database for Disease-Producing and Other Allelic Variation at the Human PAH Locus
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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