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Similar articles for PubMed (Select 8280139)

1.

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.

Aono S, Yamada Y, Keino H, Hanada N, Nakagawa T, Sasaoka Y, Yazawa T, Sato H, Koiwai O.

Biochem Biophys Res Commun. 1993 Dec 30;197(3):1239-44.

PMID:
8280139
2.

A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.

Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, Mimura S, Koiwai O, Sato H.

Pediatr Res. 1994 Jun;35(6):629-32.

PMID:
7936809
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Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait.

Koiwai O, Aono S, Adachi Y, Kamisako T, Yasui Y, Nishizawa M, Sato H.

Hum Mol Genet. 1996 May;5(5):645-7.

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A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II.

Bosma PJ, Goldhoorn B, Oude Elferink RP, Sinaasappel M, Oostra BA, Jansen PL.

Gastroenterology. 1993 Jul;105(1):216-20.

PMID:
8514037
8.

Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH, Lederstein M, Whitington PF, Jansen PL, Chowdhury NR.

FASEB J. 1992 Jul;6(10):2859-63.

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Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

Yamamoto K, Soeda Y, Kamisako T, Hosaka H, Fukano M, Sato H, Fujiyama Y, Adachi Y, Satoh Y, Bamba T.

J Hum Genet. 1998;43(2):111-4.

PMID:
9621515
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14.

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, Jansen PL, Oude Elferink RP.

J Clin Invest. 1994 Dec;94(6):2385-91.

15.

Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase.

Koiwai O, Yasui Y, Hasada K, Aono S, Sato H, Fujikake M, Aoki T.

Jpn J Hum Genet. 1995 Sep;40(3):253-7. No abstract available.

PMID:
8527799
16.

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 1;1407(1):40-50.

17.

Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.

Ciotti M, Obaray R, Martín MG, Owens IS.

Am J Med Genet. 1997 Jan 20;68(2):173-8.

PMID:
9028453
18.

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.

Rosatelli MC, Meloni A, Faa V, Saba L, Crisponi G, Clemente MG, Meloni G, Piga MT, Cao A.

J Med Genet. 1997 Feb;34(2):122-5.

19.

Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man.

Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Oude Elferink RP, Chowdhury JR, Chowdhury NR, Jansen PL.

J Biol Chem. 1994 Jul 8;269(27):17960-4. Erratum in: J Biol Chem 1994 Oct 14;269(41):2542.

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