Literature DB >> 22546830

Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Sameh Khemir1, 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.   

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Year:  2012        PMID： 22546830     DOI： 10.1007/s12041-012-0140-z

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  14 in total

1.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

2.  Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.

Authors:  Sameh Khemir; Monia El Asmi; Haifa Sanhaji; Moncef Feki; Riadh Jemaa; Neji Tebib; Jean Louis Dhondt; Marie Françoise Ben Dridi; Abderraouf Mebazaa; Naziha Kaabachi
Journal:  Clin Neurol Neurosurg       Date:  2011-09-08       Impact factor: 1.876

3.  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

4.  Genetic history of phenylketonuria mutations in Italy.

Authors:  I Dianzani; S Giannattasio; L de Sanctis; E Marra; A Ponzone; C Camaschella; A Piazza
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

Review 5.  [Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].

Authors:  V Abadie; J Berthelot; F Feillet; N Maurin; A Mercier; H Ogier de Baulny; L de Parscau
Journal:  Arch Pediatr       Date:  2005-05       Impact factor: 1.180

6.  Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Authors:  B Pérez; L R Desviat; M Die; M Ugarte
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

7.  Characterization of phenylketonuria alleles in the Italian population.

Authors:  I Dianzani; S Giannattasio; L de Sanctis; C Alliaudi; P Lattanzio; C Dionisi Vici; A Burlina; M Burroni; G Sebastio; F Carnevale
Journal:  Eur J Hum Genet       Date:  1995       Impact factor: 4.246

8.  Mutation analysis in Turkish phenylketonuria patients.

Authors:  M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

9.  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

Review 10.  Phenylketonuria mutations in Europe.

Authors:  Johannes Zschocke
Journal:  Hum Mutat       Date:  2003-04       Impact factor: 4.878
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  2 in total

1.  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

2.  Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

Authors:  Morteza Bagheri; Isa Abdi Rad; Nima Hosseini Jazani; Rasoul Zarrin; Ahad Ghazavi
Journal:  Iran J Basic Med Sci       Date:  2015-07       Impact factor: 2.699
  2 in total

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