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Items: 1 to 20 of 102

1.

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Lidsky AS, Ledley FD, DiLella AG, Kwok SC, Daiger SP, Robson KJ, Woo SL.

Am J Hum Genet. 1985 Jul;37(4):619-34.

3.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

Daiger SP, Lidsky AS, Chakraborty R, Koch R, Güttler F, Woo SL.

Lancet. 1986 Feb 1;1(8475):229-32.

PMID:
2868252
4.

RFLPs of the phenylalanine hydroxylase gene in the Italian population.

Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl HH, Cotton RG, Ponzone A.

J Inherit Metab Dis. 1989;12(2):162-5.

PMID:
2569049
5.

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.

Woo SL, Lidsky AS, Güttler F, Chandra T, Robson KJ.

Nature. 1983 Nov 10-16;306(5939):151-5.

PMID:
6316140
6.
7.

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
8.
9.
11.

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.

Ledley FD, Koch R, Jew K, Beaudet A, O'Brien WE, Bartos DP, Woo SL.

J Pediatr. 1988 Sep;113(3):463-8.

PMID:
2900886
12.

[Genetic diagnosis in classical phenylketonuria].

Wulff K, Herrmann FH, Wehnert M, Seidlitz G, Schütz M.

Z Arztl Fortbild (Jena). 1988;82(22):1127-31. German. No abstract available.

PMID:
2907835
13.

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Sturhmann M, Kucinskas V, Yurgelyavicius V, Horst J.

J Med Genet. 1991 Oct;28(10):686-90.

14.

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, Dilella AG, Woo SL.

Hum Genet. 1987 May;76(1):40-6.

PMID:
2883110
15.

Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.

Shawky RM, el-Aleem KA, Rifaat MM, el-Naggar RL, Marzouk GM.

East Mediterr Health J. 2002 Jan;8(1):49-54.

PMID:
15330560
16.

Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis.

Speer A, Bollman R, Michel A, Neumann R, Bommer C, Hanke R, Riess O, Cobet G, Coutelle C.

Prenat Diagn. 1986 Nov-Dec;6(6):447-50.

PMID:
2880342
17.

[Phenylketonuria].

Oura T.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):487-92. Japanese. No abstract available.

PMID:
2908394
18.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

Daiger SP, Reed L, Huang SS, Zeng YT, Wang T, Lo WH, Okano Y, Hase Y, Fukuda Y, Oura T, et al.

Am J Hum Genet. 1989 Aug;45(2):319-24.

19.

[Analysis of the A/C polymorphic site within the phenylalanine hydroxylase gene].

Huang S, Li Hui, Miao S, Xu L, Fang B, Liu G, Luo H.

Yi Chuan Xue Bao. 1996;23(3):169-73. Chinese.

PMID:
8950848
20.

Prenatal diagnosis of classical phenylketonuria by gene mapping.

Woo SL, Lidsky AS, Güttler F, Thirumalachary C, Robson KJ.

JAMA. 1984 Apr 20;251(15):1998-2002. No abstract available.

PMID:
6700105
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