C R Scriver
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Explore the profile of C R Scriver including associated specialties, affiliations and a list of published articles.
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370
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Recent Articles
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Scriver C, Clow C, Davies E, Ramos A, Stern L
Can Med Assoc J
. 2010 Mar;
92(26):1331-3.
PMID: 20328261
Multiple screening for aminoacidopathies has been attempted with a simple micromethod (Lancet, 2: 230, 1964) requiring only 10 mul. of plasma collected in a capillary tube and processed by a...
3.
Sarkissian C, Gamez A, Scriver C
J Inherit Metab Dis
. 2008 Aug;
32(1):3-9.
PMID: 18668342
Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism that can result in impaired postnatal cognitive development. The phenotypic outcome is multifactorial in origin,...
4.
Hardelid P, Cortina-Borja M, Munro A, Jones H, Cleary M, Champion M, et al.
Ann Hum Genet
. 2008 Jan;
72(Pt 1):65-71.
PMID: 18184144
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, the major disease...
5.
Cotton R, Auerbach A, Beckmann J, Blumenfeld O, Brookes A, Brown A, et al.
Hum Mutat
. 2007 Dec;
29(1):2-5.
PMID: 18157828
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific...
6.
Murphy B, Scriver C, Singh S
Hum Mutat
. 2006 Aug;
27(9):975.
PMID: 16917891
The human PAH gene (GenBank: U49897.1 (cDNA), AF404777 (gDNA)) harbors alleles that either cause or are associated with hyperphenylalaninemia and phenylketonuria (http://www.pahdb.mcgill.ca). Mutation analysis has identified approximately 500 alleles of...
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Scriver C
J Inherit Metab Dis
. 2004 Jun;
27(3):305-17.
PMID: 15190190
What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components...
9.
Scriver C
Acta Paediatr
. 2004 May;
93(3):294-300.
PMID: 15124827
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 waiting in the wings. The...
10.
Qiu Z, Travers R, Rauch F, Glorieux F, Scriver C, Tenenhouse H
Bone
. 2004 Jan;
34(1):134-9.
PMID: 14751570
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, respectively. The present study was undertaken...