Scriver CR - Search Results

1

Monogenic traits are not simple: lessons from phenylketonuria.

Scriver CR, Waters PJ. Scriver CR, et al. Trends Genet. 1999 Jul;15(7):267-72. doi: 10.1016/s0168-9525(99)01761-8. Trends Genet. 1999. PMID: 10390625 Review.

2

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.

Scriver CR. Scriver CR. J Clin Invest. 1998 Jun 15;101(12):2613-4. doi: 10.1172/JCI3928. J Clin Invest. 1998. PMID: 9637693 Free PMC article. No abstract available.

3

Phenylketonuria--genotypes and phenotypes.

Scriver CR. Scriver CR. N Engl J Med. 1991 May 2;324(18):1280-1. doi: 10.1056/NEJM199105023241810. N Engl J Med. 1991. PMID: 2014040 No abstract available.

4

Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era.

Scriver CR. Scriver CR. Am J Med Genet. 1997 Mar 3;69(1):1-6. doi: 10.1002/(sici)1096-8628(19970303)69:1<1::aid-ajmg1>3.0.co;2-v. Am J Med Genet. 1997. PMID: 9066875 Review. No abstract available.

5

Garrod's foresight; our hindsight.

Scriver CR. Scriver CR. J Inherit Metab Dis. 2001 Apr;24(2):93-116. doi: 10.1023/a:1010351630856. J Inherit Metab Dis. 2001. PMID: 11405353 Review.

6

After the genome--the phenome?

Scriver CR. Scriver CR. J Inherit Metab Dis. 2004;27(3):305-17. doi: 10.1023/B:BOLI.0000031100.26546.6e. J Inherit Metab Dis. 2004. PMID: 15190190 Review.

7

What we know that could influence future treatment of phenylketonuria.

Sarkissian CN, Gámez A, Scriver CR. Sarkissian CN, et al. Among authors: scriver cr. J Inherit Metab Dis. 2009 Feb;32(1):3-9. doi: 10.1007/s10545-008-0917-7. Epub 2008 Aug 3. J Inherit Metab Dis. 2009. PMID: 18668342 Review.

8

Four novel PEPD alleles causing prolidase deficiency.

Ledoux P, Scriver C, Hechtman P. Ledoux P, et al. Am J Hum Genet. 1994 Jun;54(6):1014-21. Am J Hum Genet. 1994. PMID: 8198124 Free PMC article.

9

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

John SW, Rozen R, Scriver CR, Laframboise R, Laberge C. John SW, et al. Among authors: scriver cr. Am J Hum Genet. 1990 May;46(5):970-4. Am J Hum Genet. 1990. PMID: 1971147 Free PMC article.

10

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.

Mitchell JJ, Capua A, Clow C, Scriver CR. Mitchell JJ, et al. Among authors: scriver cr. Am J Hum Genet. 1996 Oct;59(4):793-8. Am J Hum Genet. 1996. PMID: 8808593 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results