Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.
Bai J et al.
Journal of Clinical and Translational Hepatology, 2021
Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.
Mi XX et al.
Biomed Research International, 2019
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
Abuduxikuer K et al.
Medicine, 2018
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.
Aiso M et al.
Internal Medicine (tokyo, Japan), 2017
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Maruo Y et al.
Journal of Gastroenterology and Hepatology, 2016
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
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
A molecular model of the human UDP-glucuronosyltransferase 1A1, its membrane orientation, and the interactions between different parts of the enzyme.
Laakkonen L et al.
Molecular Pharmacology, 2010
Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?
Strassburg CP
Drug Metabolism Reviews, 2010
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
Sneitz N et al.
Human Mutation, 2010
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
Di YM et al.
The Aaps Journal, 2009
Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability.
Strassburg CP et al.
Archives of Toxicology, 2008
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.
Wu JX et al.
Journal of Digestive Diseases, 2008
Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A).
Strassburg CP et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Cord blood bilirubin level in relation to bilirubin UDP-glucuronosyltransferase gene missense allele in Chinese neonates.
Sun G et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
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
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
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome.
Hsieh SY et al.
The American Journal of Gastroenterology, 2001
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
Kadakol A et al.
Human Mutation, 2000
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.
Yamamoto K et al.
Biochimica Et Biophysica Acta, 1998
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
Yamamoto K et al.
Journal of Human Genetics, 1998
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.
Mackenzie PI et al.
Pharmacogenetics, 1997