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Journal Abstract Search

508 related items for PubMed ID: 12198827

  • 1. [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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  • 2. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
    Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP.
    N Engl J Med; 1995 Nov 02; 333(18):1171-5. PubMed ID: 7565971
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  • 4. Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
    Sampietro M, Iolascon A.
    Haematologica; 1999 Feb 02; 84(2):150-7. PubMed ID: 10091414
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  • 5. 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 02; 16(4):297-306. PubMed ID: 11013440
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  • 7. 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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  • 8. 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 28; 19(9):1023-8. PubMed ID: 15304120
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  • 9. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.
    Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Nanno T, Koiwai O, Sato H.
    Lancet; 1995 Apr 15; 345(8955):958-9. PubMed ID: 7715297
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  • 11. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.
    Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B.
    Clin Chim Acta; 1997 Oct 09; 266(1):63-74. PubMed ID: 9435989
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  • 12. 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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  • 13. Liver bilirubin UDP-glucuronosyltransferase activity in chronic nonhemolytic unconjugated hyperbilirubinemia of adults.
    Watanabe A, Wakabayashi H, Kuwabara Y, Yamamoto H, Hattori S, Tsuji T.
    Res Exp Med (Berl); 1998 Apr 18; 197(6):329-36. PubMed ID: 9638795
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  • 15. 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 18; 31(2):403-8. PubMed ID: 26250421
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  • 18. The genetic basis of Gilbert's syndrome.
    Sato H, Adachi Y, Koiwai O.
    Lancet; 1996 Mar 02; 347(9001):557-8. PubMed ID: 8596313
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  • 19. [Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].
    Kraemer D, Scheurlen M.
    Med Klin (Munich); 2002 Sep 15; 97(9):528-32. PubMed ID: 12371080
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  • 20. Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
    Ciotti M, Chen F, Rubaltelli FF, Owens IS.
    Biochim Biophys Acta; 1998 Jul 01; 1407(1):40-50. PubMed ID: 9639672
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