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Year Number of Results
1999 1
2000 1
2005 2
2006 1
2007 1
2008 1
2009 1
2012 1
2014 1
2016 1
2017 1
2018 1
2019 2
2022 1
2024 0

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Page 1
Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld EA, Brown RS Jr. Schonfeld EA, et al. Clin Liver Dis. 2017 Nov;21(4):673-686. doi: 10.1016/j.cld.2017.06.001. Epub 2017 Jul 29. Clin Liver Dis. 2017. PMID: 28987255 Review.
This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin defi …
This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic choles …
Levitt's CO breath test in the differential diagnosis of chronic isolated hyperbilirubinemia.
Kang LL, Liu ZL, Han QS, Chen YW, Liu LW, Xie XH, Luo JF, Ji YQ, Zhu GL, Ma YJ, Ji KM, Zhang HD. Kang LL, et al. J Breath Res. 2022 Mar 15;16(2). doi: 10.1088/1752-7163/ac57f9. J Breath Res. 2022. PMID: 35196265
RBC lifespans did not differ significantly between 26 patients with simple hemolytic HB (32 14 d) and 27 patients with a Gilbert syndrome comorbidity (40 18 d). ROC curve analysis revealed an optimal lifespan cutoff for discriminating between hemolytic and non-hemol …
RBC lifespans did not differ significantly between 26 patients with simple hemolytic HB (32 14 d) and 27 patients with a Gilbert s …
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld EA, Brown RS Jr. Schonfeld EA, et al. Med Clin North Am. 2019 Nov;103(6):991-1003. doi: 10.1016/j.mcna.2019.07.003. Med Clin North Am. 2019. PMID: 31582009 Review.
Genetic causes of liver disease lead to a wide range of presentations. This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is …
Genetic causes of liver disease lead to a wide range of presentations. This article describes hereditary hemochromatosis, Gilbert …
Predictors of irinotecan toxicity and efficacy in treatment of metastatic colorectal cancer.
Paulík A, Grim J, Filip S. Paulík A, et al. Acta Medica (Hradec Kralove). 2012;55(4):153-9. doi: 10.14712/18059694.2015.39. Acta Medica (Hradec Kralove). 2012. PMID: 23631285 Free article. Review.
The colorectal cancer ranks high among the malignant tumours in incidence and mortality and irinotecan is standardly used in palliative treatment of metastatic disease in every therapeutic line. Unfortunately, the treatment with irinotecan is often associated with severe t …
The colorectal cancer ranks high among the malignant tumours in incidence and mortality and irinotecan is standardly used in palliative trea …
Extreme neonatal hyperbilirubinemia and a specific genotype: a population-based case-control study.
Petersen JP, Henriksen TB, Hollegaard MV, Vandborg PK, Hougaard DM, Thorlacius-Ussing O, Ebbesen F. Petersen JP, et al. Pediatrics. 2014 Sep;134(3):510-5. doi: 10.1542/peds.2014-0035. Epub 2014 Aug 4. Pediatrics. 2014. PMID: 25092941
UGT1A1 is the rate-limiting enzyme in bilirubin's metabolism. The genotype of Gilbert syndrome, the UGT1A1*28 allele, causes markedly reduced activity of this enzyme, but its association with neonatal hyperbilirubinemia is uncertain and its relationship with extreme …
UGT1A1 is the rate-limiting enzyme in bilirubin's metabolism. The genotype of Gilbert syndrome, the UGT1A1*28 allele, causes m …
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR. Kadakol A, et al. Hum Mutat. 2000 Oct;16(4):297-306. doi: 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 11013440 Review.
An insertional mutation of the TATAA element upstream to UGT1A1 results in a reduced level of expression of the gene. Homozygosity for the variant promoter is required for Gilbert syndrome, but not sufficient for manifestation of hyperbilirubinemia, which is partly …
An insertional mutation of the TATAA element upstream to UGT1A1 results in a reduced level of expression of the gene. Homozygosity for the v …
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Maruo Y, Nakahara S, Yanagi T, Nomura A, Mimura Y, Matsui K, Sato H, Takeuchi Y. Maruo Y, et al. J Gastroenterol Hepatol. 2016 Feb;31(2):403-8. doi: 10.1111/jgh.13071. J Gastroenterol Hepatol. 2016. PMID: 26250421
BACKGROUND AND AIMS: Hereditary unconjugated hyperbilirubinemias, Crigler-Najjar syndrome type I, Crigler-Najjar syndrome type II (CN-2), and Gilbert syndrome (GS) all result from mutations of the bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltran …
BACKGROUND AND AIMS: Hereditary unconjugated hyperbilirubinemias, Crigler-Najjar syndrome type I, Crigler-Najjar syndrome type …
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
Abuduxikuer K, Fang LJ, Li LT, Gong JY, Wang JS. Abuduxikuer K, et al. Medicine (Baltimore). 2018 Dec;97(49):e13576. doi: 10.1097/MD.0000000000013576. Medicine (Baltimore). 2018. PMID: 30544479 Free PMC article.
Pfam database, SWISS-model, and Pymol were used for UGT1A1 protein domain analysis and protein modeling for assessing the effect of novel missense variants on protein structure.Seventy four cases, including 21 prolonged unconjugated hyperbilirubinemia (PUCH), 30 Gilbert …
Pfam database, SWISS-model, and Pymol were used for UGT1A1 protein domain analysis and protein modeling for assessing the effect of novel mi …
Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.
Mi XX, Yan J, Ma XJ, Zhu GL, Gao YD, Yang WJ, Kong XW, Chen GY, Shi JP, Gong L. Mi XX, et al. Biomed Res Int. 2019 Jul 29;2019:6272174. doi: 10.1155/2019/6272174. eCollection 2019. Biomed Res Int. 2019. PMID: 31467903 Free PMC article.
METHODS: We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the UGT1A1 gene by direct sequencing. RESULTS: For patients with Gilbert syndrome, 85% (47/55 …
METHODS: We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia a …
16 results