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Items: 1 to 20 of 200

1.

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.

Stuhrmann M, Riess O, Mönch E, Kurdoglu G.

Clin Genet. 1989 Aug;36(2):117-21.

PMID:
2569949
2.

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.

Herrmann FH, Wulff K, Wehnert M, Seidlitz G, Güttler F.

Clin Genet. 1988 Sep;34(3):176-80.

PMID:
2902943
3.

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.

Jaruzelska J, Borski K, Riess O, Blin N, Słomski R.

Acta Biochim Pol. 1989;36(3-4):323-32.

4.

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.

Güttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SL.

J Pediatr. 1987 Jan;110(1):68-71.

PMID:
2878985
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
6.

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
7.
8.

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

Apold J, Eiken HG, Odland E, Fredriksen A, Bakken A, Lorens JB, Boman H.

Am J Hum Genet. 1990 Dec;47(6):1002-7.

9.

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.

Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, Ayter S.

Turk J Pediatr. 1993 Jan-Mar;35(1):11-4.

PMID:
7901929
10.

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.

Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SL.

Hum Mol Genet. 1993 May;2(5):577-81.

PMID:
8100164
11.
12.

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC.

J Med Genet. 1998 Apr;35(4):301-4.

13.
14.

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.

15.

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Lichter-Konecki U, Schlotter M, Yaylak C, Ozgüç M, Coskun T, Ozalp I, Wendel U, Batzler U, Trefz FK, Konecki D.

Hum Genet. 1989 Mar;81(4):373-6.

PMID:
2564839
17.

Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus.

Degioanni A, Darlu P.

Eur J Hum Genet. 1994;2(3):166-76.

PMID:
7834276
18.

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

Popescu T, Blazkova M, Kozak L, Jebeleanu G, Popescu A.

Hum Mutat. 1998;12(5):314-9.

PMID:
9792407
19.

[New polymorphic sites in the structure of the human phenylalanine hydroxylase gene].

Smagulova FO, Morozov IV.

Genetika. 2000 Dec;36(12):1716-8. Russian.

PMID:
11190481
20.

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.

Wang T, Okano Y, Eisensmith RC, Fekete G, Schuler D, Berencsi G, Nasz I, Woo SL.

Somat Cell Mol Genet. 1990 Jan;16(1):85-90.

PMID:
2309142

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