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Journal Abstract Search

184 related items for PubMed ID: 16456422

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  • 3. 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. Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases.
    Petit FM, Gajdos V, Francoual J, Capel L, Parisot F, Poüs C, Labrune P.
    Clin Genet; 2004 Dec; 66(6):571-2. PubMed ID: 15521991
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  • 5. Crigler-Najjar type II disease inheritance: a family study.
    Labrune P, Myara A, Hennion C, Gout JP, Trivin F, Odievre M.
    J Inherit Metab Dis; 1989 Dec; 12(3):302-6. PubMed ID: 2515370
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  • 7. Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
    Gailite L, Rots D, Pukite I, Cernevska G, Kreile M.
    BMC Pediatr; 2018 Oct 03; 18(1):317. PubMed ID: 30285761
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  • 8. 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 Oct 03; 36(1):91-7. PubMed ID: 16269258
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  • 11. Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene.
    Ciotti M, Werlin SL, Owens IS.
    J Pediatr Gastroenterol Nutr; 1999 Feb 03; 28(2):210-3. PubMed ID: 9932859
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  • 12. Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
    Maruo Y, Behnam M, Ikushiro S, Nakahara S, Nouri N, Salehi M.
    J Gastrointestin Liver Dis; 2015 Dec 03; 24(4):523-6. PubMed ID: 26697581
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  • 15. UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
    Khan S, Irfan M, Sher G, Zubaida B, Alvi MA, Yasinzai M, Naeem M.
    Ann Hum Genet; 2013 Nov 03; 77(6):482-7. PubMed ID: 23992562
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  • 16. [Genetic analysis of a child affected with Crigler-Najjar syndrome type II].
    Wu Y, Li G, Zhou Y, Li J, Hu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun 03; 33(3):328-31. PubMed ID: 27264814
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  • 17. Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
    Maruo Y, Verma IC, Matsui K, Takahashi H, Mimura Y, Ota Y, Mori A, Saxena R, Sato H, Takeuchi Y.
    J Pediatr Gastroenterol Nutr; 2008 Mar 03; 46(3):308-11. PubMed ID: 18376249
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  • 19. A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.
    Wang J, Fang LJ, Li L, Wang JS, Chen C.
    Chin Med J (Engl); 2011 Dec 03; 124(23):4109-11. PubMed ID: 22340355
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  • 20. [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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