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Journal Abstract Search

131 related items for PubMed ID: 39069255

  • 1. Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.
    Wu L, Li Z, Song Y, Li Y, Zhang W, Zhong X, Wang X, Huang J, Ou X.
    Eur J Med Genet; 2024 Oct; 71():104962. PubMed ID: 39069255
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  • 4. 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.
    Medicine (Baltimore); 2018 Dec; 97(49):e13576. PubMed ID: 30544479
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  • 6. Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
    Li L, Deng G, Tang Y, Mao Q.
    PLoS One; 2015 Dec; 10(5):e0126263. PubMed ID: 25993113
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  • 7. Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
    Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M.
    Pediatrics; 2000 Nov; 106(5):E59. PubMed ID: 11061796
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  • 8. 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, Sato H, Fujiyama Y, Doida Y, Bamba T.
    Biochim Biophys Acta; 1998 Apr 28; 1406(3):267-73. PubMed ID: 9630669
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  • 9. Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
    Cozzi L, Nuti F, Degrassi I, Civeriati D, Paolella G, Nebbia G.
    Ital J Pediatr; 2022 Apr 18; 48(1):59. PubMed ID: 35436954
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  • 10. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
    Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y.
    Clin Genet; 2003 Nov 18; 64(5):420-3. PubMed ID: 14616765
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  • 13. Compound heterozygous UGT1A1*28 and UGT1A1*6 or single homozygous UGT1A1*28 are major genotypes associated with Gilbert's syndrome in Chinese Han people.
    Zhang M, Wang H, Huang Y, Xu X, Liu W, Ning Q, Chen T, Qi J.
    Gene; 2021 May 20; 781():145526. PubMed ID: 33631237
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  • 14. Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
    Canu G, Minucci A, Zuppi C, Capoluongo E.
    Blood Cells Mol Dis; 2013 Apr 20; 50(4):273-80. PubMed ID: 23403257
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  • 18. Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.
    Costa E, Vieira E, Martins M, Saraiva J, Cancela E, Costa M, Bauerle R, Freitas T, Carvalho JR, Santos-Silva E, Barbot J, Dos Santos R.
    Blood Cells Mol Dis; 2006 Apr 20; 36(1):91-7. PubMed ID: 16269258
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  • 20. Role of a homozygous A(TA)₇TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate.
    Nilyanimit P, Krasaelap A, Foonoi M, Chongsrisawat V, Poovorawan Y.
    Genet Mol Res; 2013 Sep 04; 12(3):3391-7. PubMed ID: 24065680
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