Associated Papers
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.
Rahimzadeh A et al.
Advanced Biomedical Research, 2024
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.
Xiao Y et al.
Chinese Medical Journal, 2021
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
Wang X et al.
Orphanet Journal of Rare Diseases, 2021
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan H et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2019
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Zhang Z et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2018
13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder.
Teraishi T et al.
Journal of Psychiatric Research, 2018
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.
Rastegar Moghadam M et al.
Medical Journal of the Islamic Republic of Iran, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Biglari A et al.
Springerplus, 2015
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Alibakhshi R et al.
Metabolic Brain Disease, 2014
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.
Murad H et al.
Gene, 2013
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Sterl E et al.
Journal of Inherited Metabolic Disease, 2013
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.
Moradi K et al.
Indian Journal of Human Genetics, 2012
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Poulsen L et al.
Plos One, 2011
Selection for translation efficiency on synonymous polymorphisms in recent human evolution.
Waldman YY et al.
Genome Biology and Evolution, 2011
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Dobrowolski SF et al.
Journal of Human Genetics, 2009
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2007
Phenylketonuria mutations in Northern China.
Song F et al.
Molecular Genetics and Metabolism, 2005
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
Chen KJ et al.
Human Genetics, 2002
Characterization of phenylketonuria alleles in the Italian population.
Dianzani I et al.
European Journal of Human Genetics : Ejhg, 1995
[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
Nechiporenko MV et al.
Tsitologiia I Genetika, 0
[Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].
Solovĭov OO et al.
Tsitologiia I Genetika, 0
A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.
Alavinejad E et al.
Avicenna Journal of Medical Biotechnology, 0