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Results: 1 to 20 of 123

1.

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.

DiLella AG, Huang WM, Woo SL.

Lancet. 1988 Mar 5;1(8584):497-9.

PMID:
2893918
[PubMed - indexed for MEDLINE]
2.

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.

Lichter-Konecki U, Schlotter M, Trefz FK, Konecki DS.

Eur J Pediatr. 1989 Nov;149(2):120-3.

PMID:
2591403
[PubMed - indexed for MEDLINE]
3.

Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians.

Tsai TF, Hsiao KJ, Su TS.

Hum Genet. 1990 Apr;84(5):409-11.

PMID:
2323773
[PubMed - indexed for MEDLINE]
5.

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D.

Mol Biol Med. 1989 Jun;6(3):245-50.

PMID:
2615649
[PubMed - indexed for MEDLINE]
6.

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Kozák L, Blazková M, Kuhrová V, Pijácková A, Růzicková S, St'astná S.

J Med Genet. 1997 Nov;34(11):893-8.

PMID:
9391881
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Desviat LR, Pérez B, Ugarte M.

Hum Genet. 1993 Oct 1;92(3):254-8.

PMID:
8104860
[PubMed - indexed for MEDLINE]
8.

Identification of three novel missense PKU mutations among Chinese.

Li J, Eisensmith RC, Wang T, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL.

Genomics. 1992 Jul;13(3):894-5.

PMID:
1639423
[PubMed - indexed for MEDLINE]
9.

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

DiLella AG, Marvit J, Brayton K, Woo SL.

Nature. 1987 May 28-Jun 3;327(6120):333-6.

PMID:
2884570
[PubMed - indexed for MEDLINE]
10.

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk JJ, Horst J.

Hum Genet. 1991 Nov;88(1):91-4.

PMID:
1683647
[PubMed - indexed for MEDLINE]
11.

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.

Dworniczak B, Aulehla-Scholz C, Horst J.

Clin Genet. 1990 Oct;38(4):270-3.

PMID:
2268974
[PubMed - indexed for MEDLINE]
12.

[Genetic diagnosis of phenylketonuria. III. Mutations of phenylalanine hydroxylase gene in Orientals].

Takarada Y, Yamashita K, Kagawa S, Zhang QZ, Matsuoka A.

Rinsho Byori. 1994 Nov;42(11):1158-64. Japanese.

PMID:
7844887
[PubMed - indexed for MEDLINE]
13.

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

Eisensmith RC, Martinez DR, Kuzmin AI, Goltsov AA, Brown A, Singh R, Elsas LJ II, Woo SL.

Pediatrics. 1996 Apr;97(4):512-6.

PMID:
8632937
[PubMed - indexed for MEDLINE]
14.

[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics].

Takarada Y, Yamashita K, Kalanin J, Kagawa S, Matsuoka A.

Rinsho Byori. 1994 Nov;42(11):1165-71. Japanese.

PMID:
7844888
[PubMed - indexed for MEDLINE]
15.

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.

Svensson E, Wang Y, Eisensmith RC, Hagenfeldt L, Woo SL.

Eur J Hum Genet. 1993;1(4):306-13.

PMID:
8081944
[PubMed - indexed for MEDLINE]
16.

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

DiLella AG, Marvit J, Lidsky AS, Güttler F, Woo SL.

Nature. 1986 Aug 28-Sep 3;322(6082):799-803.

PMID:
3018584
[PubMed - indexed for MEDLINE]
17.

Modern techniques of differentiating the various phenotypes of phenylketonuria.

Guttler F.

Postgrad Med J. 1989;65 Suppl 2:S2-6.

PMID:
2576129
[PubMed - indexed for MEDLINE]
18.

Identification of a new missense mutation in Japanese phenylketonuric patients.

Goebel-Schreiner B, Schreiner R.

J Inherit Metab Dis. 1993;16(6):950-6. Erratum in: J Inherit Metab Dis 1994;17(1):66.

PMID:
8068076
[PubMed - indexed for MEDLINE]
19.
20.

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.

Meijer H, Jongbloed RJ, Hekking M, Spaapen LJ, Geraedts JP.

Hum Genet. 1993 Dec;92(6):588-92.

PMID:
7903270
[PubMed - indexed for MEDLINE]

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