Associated Papers
The spectrum of TP53 mutations in Rwandan patients with gastric cancer.
Nzitakera A et al.
Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 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
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Pecimonova M et al.
Genes, 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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
Hamilton V et al.
Jimd Reports, 2018
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.
Ohlsson A et al.
Jimd Reports, 2017
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].
Oscarson M et al.
Lakartidningen, 2016
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 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
Risk factors for developing mineral bone disease in phenylketonuric patients.
Mirás A et al.
Molecular Genetics and Metabolism, 2013
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
Rivera I et al.
Molecular Genetics and Metabolism, 2011
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
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
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Bélanger-Quintana A et al.
Molecular Genetics and Metabolism, 2005
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A et al.
Human Mutation, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX et al.
Human Mutation, 2001
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Pérez B et al.
Human Mutation, 1999
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
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
Byck S et al.
Human Mutation, 1997
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.
DiSilvestre D et al.
American Journal of Human Genetics, 1991
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
Desviat LR et al.
Molecular Genetics and Metabolism, 0