Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E et al.
Orphanet Journal of Rare Diseases, 2015
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M et al.
Clinical Genetics, 2015
Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.
Yu W et al.
International Journal of Clinical and Experimental Medicine, 2014
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
Naiya T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2012
Human mutation databases.
Horaitis O et al.
Current Protocols in Bioinformatics, 2005
Human mutation databases.
Horaitis O et al.
Current Protocols in Human Genetics, 2005
Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes.
Nebert DW
Human Mutation, 2002
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC et al.
European Journal of Human Genetics : Ejhg, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ et al.
Human Mutation, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
Eiken HG et al.
European Journal of Pediatrics, 1996
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Eiken HG et al.
Human Mutation, 1996
PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
Knappskog PM et al.
Human Mutation, 1996
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
Eisensmith RC et al.
American Journal of Human Genetics, 1995
Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.
Kuzmin AI et al.
European Journal of Human Genetics : Ejhg, 1995
Population genetics of phenylketonuria.
Eisensmith RC et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Rozen R et al.
American Journal of Human Genetics, 1994
Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria.
Walter JH et al.
European Journal of Pediatrics, 1993
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.
Treacy E et al.
European Journal of Human Genetics : Ejhg, 1993
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
Wood N et al.
Human Mutation, 1993
[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
Wang M
Zhonghua Yi Xue Za Zhi, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Eisensmith RC et al.
Human Mutation, 1992
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
John SW et al.
Human Mutation, 1992
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
John SW et al.
Human Mutation, 1992
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
Eiken HG et al.
Human Mutation, 1992
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.
Eiken HG et al.
Nucleic Acids Research, 1991
Phenylketonuria and the phenylalanine hydroxylase gene.
Eisensmith RC et al.
Molecular Biology & Medicine, 1991