Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Type II Crigler-Najjar syndrome: a case report and literature review.
He T et al.
Frontiers in Medicine, 2024
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.
Zheng B et al.
Bmc Pediatrics, 2014
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
Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.
Minucci A et al.
Clinical Biochemistry, 2013
Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?
Strassburg CP
Drug Metabolism Reviews, 2010
Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability.
Strassburg CP et al.
Archives of Toxicology, 2008
Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A).
Strassburg CP et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al.
Petit FM et al.
Haematologica, 2007
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
D'Apolito M et al.
Haematologica, 2007
Crigler-Najjar syndrome type 2.
Huang CS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
Maruo Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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
Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanine.
Ciotti M et al.
Biochemistry, 1998
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.
Mackenzie PI et al.
Pharmacogenetics, 1997