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Results: 13

1.

Consequences of variations in genes that affect dopamine in prefrontal cortex.

Diamond A.

Cereb Cortex. 2007 Sep;17 Suppl 1:i161-70. Review.

PMID:
17725999
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.

Am J Hum Genet. 1997 Dec;61(6):1309-17.

PMID:
9399896
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Marvit J, DiLella AG, Brayton K, Ledley FD, Robson KJ, Woo SL.

Nucleic Acids Res. 1987 Jul 24;15(14):5613-28.

PMID:
3615198
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al.

Am J Hum Genet. 1988 Dec;43(6):914-21.

PMID:
2904221
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Molecular genetics of phenylketonuria and its implications.

Levy HL.

Am J Hum Genet. 1989 Nov;45(5):667-70. Review. No abstract available.

PMID:
2573272
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.

Tyfield LA, Meredith AL, Osborn MJ, Harper PS.

J Med Genet. 1989 Aug;26(8):499-503.

PMID:
2570158
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.

Hertzberg M, Jahromi K, Ferguson V, Dahl HH, Mercer J, Mickleson KN, Trent RJ.

Am J Hum Genet. 1989 Mar;44(3):382-7.

PMID:
2563633
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

DNA haplotype analyses of patients with hyperphenylalaninemia.

Di Silvestre D, Pandya A, Koch R, Groffen J.

Am J Hum Genet. 1990 Oct;47(4):706-11.

PMID:
2220810
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic analysis of treated and untreated phenylketonuria in one family.

Tyfield LA, Meredith AL, Osborn MJ, Primavesi R, Chambers TL, Holton JB, Harper PS.

J Med Genet. 1990 Sep;27(9):564-8.

PMID:
1977916
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Recurrent mutation in the human phenylalanine hydroxylase gene.

Okano Y, Wang T, Eisensmith RC, Güttler F, Woo SL.

Am J Hum Genet. 1990 May;46(5):919-24.

PMID:
1971144
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Okano Y, Wang T, Eisensmith RC, Steinmann B, Gitzelmann R, Woo SL.

Am J Hum Genet. 1990 Jan;46(1):18-25.

PMID:
1967207
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

Tyfield LA, Osborn MJ, Holton JB.

J Med Genet. 1991 Apr;28(4):244-7.

PMID:
1677425
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Spasticity and white matter abnormalities in adult phenylketonuria.

McCombe PA, McLaughlin DB, Chalk JB, Brown NN, McGill JJ, Pender MP.

J Neurol Neurosurg Psychiatry. 1992 May;55(5):359-61.

PMID:
1602307
[PubMed - indexed for MEDLINE]
Free PMC Article

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