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PUBMED FOR HANDHELDS

Journal Abstract Search


279 related items for PubMed ID: 12371080

  • 1.
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  • 2. 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; 16(4):297-306. PubMed ID: 11013440
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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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  • 6. 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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  • 7. 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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  • 10. Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.
    Liaqat A, Shahid A, Attiq H, Ameer A, Imran M.
    J Coll Physicians Surg Pak; 2018 Oct 18; 28(10):806-808. PubMed ID: 30266131
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  • 11. [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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  • 13. 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 10; 19(9):1023-8. PubMed ID: 15304120
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  • 15. Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
    Udomuksorn W, Elliot DJ, Lewis BC, Mackenzie PI, Yoovathaworn K, Miners JO.
    Pharmacogenet Genomics; 2007 Dec 10; 17(12):1017-29. PubMed ID: 18004206
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  • 16. Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.
    Yildiz D, Alan S, Kilic A, Yaman A, Erdeve O, Kuloglu Z, Atasay B, Arsan S.
    Genet Couns; 2013 Dec 10; 24(3):273-7. PubMed ID: 24341141
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  • 17. Genetic factors in neonatal hyperbilirubinemia and kernicterus.
    Sarici SU, Saldir M.
    Turk J Pediatr; 2007 Dec 10; 49(3):245-9. PubMed ID: 17990575
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  • 19. Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
    Servedio V, d'Apolito M, Maiorano N, Minuti B, Torricelli F, Ronchi F, Zancan L, Perrotta S, Vajro P, Boschetto L, Iolascon A.
    Hum Mutat; 2005 Mar 10; 25(3):325. PubMed ID: 15712364
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