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Items: 1 to 20 of 141

1.

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.

PMID:
1634050
2.

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.

3.
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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
5.

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
6.

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. Review.

PMID:
11013440
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12.

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
13.

Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.

Gantla S, Bakker CT, Deocharan B, Thummala NR, Zweiner J, Sinaasappel M, Roy Chowdhury J, Bosma PJ, Roy Chowdhury N.

Am J Hum Genet. 1998 Mar;62(3):585-92.

14.

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.

PMID:
8733132
17.

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
19.

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
20.

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

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