Associated Papers
Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.
Al-Mahrouqi N et al.
Genes, 2025
A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants.
Tran P et al.
Acg Case Reports Journal, 2024
Type II Crigler-Najjar syndrome: a case report and literature review.
He T et al.
Frontiers in Medicine, 2024
Il-6 and UGT1A1 variations may related to furosemide resistance in heart failure patients.
Koprululu Kucuk G et al.
Iubmb Life, 2023
Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.
Cerezo-Arias MLO et al.
Journal of Personalized Medicine, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
Maruo Y et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2015
Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article.
Oussalah A et al.
Medicine, 2015
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.
Gupta N et al.
Plos One, 2015
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.
Skierka JM et al.
The Journal of Pediatrics, 2013
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2013
Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.
Galehdari H et al.
International Journal of Molecular Epidemiology and Genetics, 2013
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.
Rahim F et al.
Genetics Research International, 2013
Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient.
Minucci A et al.
Blood Cells, Molecules & Diseases, 2012
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.
Rodrigues C et al.
Blood Cells, Molecules & Diseases, 2012
Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.
Hao D et al.
Science China. Life Sciences, 2010
Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.
Li C et al.
Bmc Evolutionary Biology, 2007
Crigler-Najjar syndrome type 2.
Huang CS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
Petit F et al.
Clinical Genetics, 2006
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
Servedio V et al.
Human Mutation, 2005
TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome.
Costa E et al.
Haematologica, 2002
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.
Costa E et al.
Blood Cells, Molecules & Diseases, 0