Literature DB >> 7942862

Genetic history of phenylketonuria mutations in Italy.

I Dianzani, S Giannattasio, L de Sanctis, E Marra, A Ponzone, C Camaschella, A Piazza.   

Abstract

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Year:  1994        PMID： 7942862      PMCID： PMC1918290     

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


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  9 in total

1.  A genetic history of Italy.

Authors:  A Piazza; N Cappello; E Olivetti; S Rendine
Journal:  Ann Hum Genet       Date:  1988-07       Impact factor: 1.670

Review 2.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Demic expansions and human evolution.

Authors:  L L Cavalli-Sforza; P Menozzi; A Piazza
Journal:  Science       Date:  1993-01-29       Impact factor: 47.728

4.  Who are the Europeans?

Authors:  A Piazza
Journal:  Science       Date:  1993-06-18       Impact factor: 47.728

5.  Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

Authors:  I Dianzani; S M Forrest; C Camaschella; G Saglio; A Ponzone; R G Cotton
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

Review 6.  The spectrum of cystic fibrosis mutations.

Authors:  L C Tsui
Journal:  Trends Genet       Date:  1992-11       Impact factor: 11.639

7.  Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Authors:  H G Eiken; E Odland; H Boman; L Skjelkvåle; L F Engebretsen; J Apold
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

8.  Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Authors:  P Guldberg; V Romano; N Ceratto; P Bosco; M Ciuna; A Indelicato; F Mollica; C Meli; M Giovannini; E Riva
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

9.  Multiple origins for phenylketonuria in Europe.

Authors:  R C Eisensmith; Y Okano; M Dasovich; T Wang; F Güttler; H Lou; P Guldberg; U Lichter-Konecki; D S Konecki; E Svensson
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  9 in total
  10 in total

1.  Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Authors:  Sameh Khemir; Hajer Siala; Sameh Hadj Taieb; Wafa Cherif; Hatem Azzouz; Rym Kéfi; Sonia Abdelhak; Naziha Khouja; Neji Tebib; Taieb Massaoud; Marie Françoise Ben Dridi; Naziha Kaabachi
Journal:  J Genet       Date:  2012       Impact factor: 1.166

2.  Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Authors:  V Guzzetta; G Bonapace; I Dianzani; G Parenti; M Lecora; S Giannattasio; D Concolino; P Strisciuglio; G Sebastio; G Andria
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

Review 3.  Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

Authors:  L A Tyfield
Journal:  Mol Pathol       Date:  1997-08

4.  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

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

Authors:  L Kozák; M Blazková; V Kuhrová; A Pijácková; S Růzicková; S St'astná
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

6.  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

7.  Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

Authors:  L A Tyfield; J Zschocke; A Stephenson; F Cockburn; A Harvie; J L Bidwell; N A Wood; L P Hunt
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

8.  Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Authors:  Reza Alibakhshi; Aboozar Mohammadi; Nader Salari; Sahand Khamooshian; Mohsen Kazeminia; Keivan Moradi
Journal:  Metab Brain Dis       Date:  2021-02-24       Impact factor: 3.584

9.  Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Authors:  M Carella; L D'Ambrosio; A Totaro; A Grifa; M A Valentino; A Piperno; D Girelli; A Roetto; B Franco; P Gasparini; C Camaschella
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

10.  Allelic association of microsatellites of 6p in Italian hemochromatosis patients.

Authors:  C Camaschella; A Roetto; P Gasparini; A Piperno; P Fortina; S Surrey; E Rappaport
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132
  10 in total

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