Charles R. Scriver, M.D.
Affiliations: | McGill University, Montreal, QC, Canada |
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"Charles R. Scriver, M.D."Bio:
https://www.ccmg-ccgm.org/news-article-11.html?id=221amp;catid=122
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Parents
Sign in to add mentorCharles Enrique Dent | post-doc | 1960 | University College Hospital (GenetiTree) |
Harry Harris | post-doc | 1960 | The London Hospital Medical College (GenetiTree) |
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Publications
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Mitchell JJ, Trakadis YJ, Scriver CR. (2011) Phenylalanine hydroxylase deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 697-707 |
Scriver CR, Tenenhouse HS. (2011) Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate Comprehensive Physiology. 1977-2016 |
Sarkissian CN, Gámez A, Scriver CR. (2008) What we know that could influence future treatment of phenylketonuria. Journal of Inherited Metabolic Disease. 32: 3-9 |
Cotton RG, Auerbach AD, Beckmann JS, et al. (2008) Recommendations for locus-specific databases and their curation. Human Mutation. 29: 2-5 |
Scriver CR. (2007) The PAH gene, phenylketonuria, and a paradigm shift. Human Mutation. 28: 831-45 |
Erlandsen H, Pey AL, Gámez A, et al. (2004) Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proceedings of the National Academy of Sciences of the United States of America. 101: 16903-8 |
Scriver CR, Hurtubise M, Konecki D, et al. (2003) PAHdb 2003: what a locus-specific knowledgebase can do. Human Mutation. 21: 333-44 |
Waters PJ, Scriver CR, Parniak MA. (2001) Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. Molecular Genetics and Metabolism. 73: 230-8 |
Scriver CR. (2001) Mutation analysis in metabolic (and other genetic) disease: how soon, how useful. European Journal of Pediatrics. S243-5 |
Waters PJ, Parniak MA, Akerman BR, et al. (2000) Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Molecular Genetics and Metabolism. 69: 101-10 |