Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
Personalized Genotype-Based Approach for Treatment of Phenylketonuria.
Gundorova P et al.
Journal of Inherited Metabolic Disease, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Klaassen K et al.
Scientific Reports, 2025
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F et al.
American Journal of Human Genetics, 2024
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V et al.
Endocrinology, Diabetes & Metabolism, 2023
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Tolve M et al.
Methods and Protocols, 2018
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Arbesman J et al.
Pigment Cell & Melanoma Research, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
Tanyalcin I et al.
Bmc Bioinformatics, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Shen N et al.
Molecular Genetics and Metabolism, 2016
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
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia.
Bartoletti-Stella A et al.
Journal of Neurology, 2015
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
Wettstein S et al.
European Journal of Human Genetics : Ejhg, 2015
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Danecka MK et al.
Journal of Medical Genetics, 2015
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Blau N et al.
Expert Review of Molecular Diagnostics, 2014
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Trunzo R et al.
Clinical Biochemistry, 2014
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E et al.
Gene, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Heintz C et al.
Human Mutation, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?
Wiedemann A et al.
Molecular Genetics and Metabolism, 2013
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Bik-Multanowski M et al.
Acta Biochimica Polonica, 2013
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Quirk ME et al.
Molecular Genetics and Metabolism, 2012
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Groselj U et al.
Molecular Genetics and Metabolism, 2012
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I et al.
Molecular Genetics and Metabolism, 2009
Effect of BH(4) supplementation on phenylalanine tolerance.
Burlina A et al.
Journal of Inherited Metabolic Disease, 2009
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Kasnauskiene J et al.
Genetika, 2008
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.
Gramer G et al.
Journal of Inherited Metabolic Disease, 2007
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Leuzzi V et al.
Journal of Inherited Metabolic Disease, 2006