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216 related items for PubMed ID: 30669781

  • 1. [Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].
    Xiong QF, Zhong YD, Feng XN, Zhou H, Liu DX, Wu XP, Yang YF.
    Zhonghua Gan Zang Bing Za Zhi; 2018 Dec 20; 26(12):898-902. PubMed ID: 30669781
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  • 2. [Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].
    Xiong QF, Lu YJ, Zou L, Zhou H, Ren H, Feng XN, Yang YF.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Apr 20; 32(4):340-345. PubMed ID: 38733189
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  • 4. 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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  • 5. [UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].
    Shen Y, Guo HM, Zheng YC, Zheng BX, Yan KL, Kong GP, Lin Q, Jin Y, Liu ZF, Li M.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Feb 20; 32(2):119-124. PubMed ID: 38514260
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  • 6. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects.
    Takeuchi K, Kobayashi Y, Tamaki S, Ishihara T, Maruo Y, Araki J, Mifuji R, Itani T, Kuroda M, Sato H, Kaito M, Adachi Y.
    J Gastroenterol Hepatol; 2004 Sep 20; 19(9):1023-8. PubMed ID: 15304120
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  • 9. A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndrome.
    Nakagawa T, Mure T, Yusoff S, Ono E, Kusuma Harahap IS, Morikawa S, Morioka I, Takeshima Y, Nishio H, Matsuo M.
    Kobe J Med Sci; 2011 Jul 20; 57(1):E26-31. PubMed ID: 22169899
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  • 10. 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.
    J Gastroenterol Hepatol; 2016 Feb 20; 31(2):403-8. PubMed ID: 26250421
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  • 14. Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
    Trabelsi N, Chaouch L, Haddad F, Jaouani M, Barkaoui E, Darragi I, Chaouachi D, Boudrigua I, Menif S, Abbes S.
    Eur J Med Genet; 2021 Feb 20; 64(2):104139. PubMed ID: 33421605
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  • 15. [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II].
    Drenth JP, Peters WH, Jansen JB.
    Ned Tijdschr Geneeskd; 2002 Aug 10; 146(32):1488-90. PubMed ID: 12198827
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  • 16. 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 10; 64(5):420-3. PubMed ID: 14616765
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  • 17. 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 10; 97(49):e13576. PubMed ID: 30544479
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  • 18. 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, Hu G, Yu J, Liu Z.
    BMC Pediatr; 2014 Oct 15; 14():267. PubMed ID: 25319636
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  • 19. 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.
    Hum Mutat; 2000 Oct 15; 16(4):297-306. PubMed ID: 11013440
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  • 20. UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.
    Skierka JM, Kotzer KE, Lagerstedt SA, O'Kane DJ, Baudhuin LM.
    J Pediatr; 2013 Jun 15; 162(6):1146-52, 1152.e1-2. PubMed ID: 23290513
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