Literature DB >> 1361103

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

R C Eisensmith, S L Woo.   

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Year:  1992        PMID： 1361103      PMCID： PMC1682911     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 in total

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

Authors:  A S Lidsky; F D Ledley; A G DiLella; S C Kwok; S P Daiger; K J Robson; S L Woo
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  Outcome of the patients detected by newborn screening in Japan.

Authors:  K Aoki; Y Wada
Journal:  Acta Paediatr Jpn       Date:  1988-08

3.  Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

Authors:  A G DiLella; S C Kwok; F D Ledley; J Marvit; S L Woo
Journal:  Biochemistry       Date:  1986-02-25       Impact factor: 3.162

4.  PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.

Authors:  B Dworniczak; N Wedemeyer; A Eigel; J Horst
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

5.  PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.

Authors:  N Wedemeyer; B Dworniczak; J Horst
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

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

Authors:  S P Daiger; A S Lidsky; R Chakraborty; R Koch; F Güttler; S L Woo
Journal:  Lancet       Date:  1986-02-01       Impact factor: 79.321

7.  The PKU locus in man is on chromosome 12.

Authors:  A S Lidksy; K J Robson; C Thirumalachary; P E Barker; F H Ruddle; S L Woo
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

8.  Prenatal diagnosis of classic phenylketonuria by DNA analysis.

Authors:  A S Lidsky; F Güttler; S L Woo
Journal:  Lancet       Date:  1985-03-09       Impact factor: 79.321

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

Authors:  S L Woo; A S Lidsky; F Güttler; T Chandra; K J Robson
Journal:  Nature       Date:  1983 Nov 10-16       Impact factor: 49.962

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

Authors:  S W John; R Rozen; C R Scriver; R Laframboise; C Laberge
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025
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  16 in total

1.  The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Authors:  Ying Liang; Miao-Zeng Huang; Cheng-Yi Cheng; Hung-Kun Chao; Victor Tramjay Fwu; Szu-Hui Chiang; Kwang-Jen Hsiao; Dau-Ming Niu; Tsung-Sheng Su
Journal:  J Hum Genet       Date:  2014-01-09       Impact factor: 3.172

2.  Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

Authors:  L A Tyfield; A Stephenson; F Cockburn; A Harvie; J L Bidwell; N A Wood; D T Pilz; P Harper; I Smith
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

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

Authors:  I Rivera; P Leandro; U Lichter-Konecki; I Tavares de Almeida; M C Lechner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

4.  PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

Authors:  L Hoang; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

5.  Polymorphism in the 3' untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes.

Authors:  S J Ramus; R G Cotton
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

6.  Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

Authors:  B Pérez; L R Desviat; M J García; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

8.  Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Authors:  L Kozák; V Kuhrová; M Blazková; V Romano; L Fajkusová; D Dvoráková; A Pijácková
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.

Authors:  S J Ramus; E P Treacy; R G Cotton
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

10.  PKU in Slovakia: mutation screening and haplotype analysis.

Authors:  L Kádasi; H Poláková; E Feráková; S Hudecová; T Bohusová; I Szomolayová; J Strnová; I Hruskovic; N K Moschonas; V Ferák
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132
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