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Results: 1 to 20 of 132

Similar articles for PubMed (Select 19830808)

1.

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

Sneitz N, Bakker CT, de Knegt RJ, Halley DJ, Finel M, Bosma PJ.

Hum Mutat. 2010 Jan;31(1):52-9. doi: 10.1002/humu.21133.

PMID:
19830808
2.

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;25(3):325.

PMID:
15712364
3.

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
4.

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;19(9):1023-8.

PMID:
15304120
5.

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.

6.

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM, Kotzer KE, Lagerstedt SA, O'Kane DJ, Baudhuin LM.

J Pediatr. 2013 Jun;162(6):1146-52, 1152.e1-2. doi: 10.1016/j.jpeds.2012.11.042. Epub 2013 Jan 4.

PMID:
23290513
7.

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.

Li Y, Qu YJ, Zhong XM, Cao YY, Jin LM, Bai JL, Ma X, Jin YW, Wang H, Zhang YL, Song F.

J Zhejiang Univ Sci B. 2014 May;15(5):474-81. doi: 10.1631/jzus.B1300233.

8.

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;77(6):482-7. doi: 10.1111/ahg.12039. Epub 2013 Aug 29.

PMID:
23992562
9.

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G, Minucci A, Zuppi C, Capoluongo E.

Blood Cells Mol Dis. 2013 Apr;50(4):273-80. doi: 10.1016/j.bcmd.2013.01.003. Epub 2013 Feb 9.

PMID:
23403257
10.

Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia.

Zmetáková I, Ferák V, Minárik G, Ficek A, Poláková H, Feráková E, Kádasi L.

Gen Physiol Biophys. 2007 Dec;26(4):306-10.

PMID:
18281749
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. Review. Dutch.

PMID:
12198827
12.

[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. Review. German.

PMID:
12371080
13.

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;17(12):1017-29.

PMID:
18004206
14.

Role of a homozygous A(TA)₇TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate.

Nilyanimit P, Krasaelap A, Foonoi M, Chongsrisawat V, Poovorawan Y.

Genet Mol Res. 2013 Sep 4;12(3):3391-7. doi: 10.4238/2013.September.4.5.

15.

[Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].

Sun SC, Zhou ZM, Chen QR, Peng YS, Tu CQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):425-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.010. Chinese.

PMID:
23926009
16.
17.

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.

18.

A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.

Wu JX, Cheng GY, Huang J.

J Dig Dis. 2008 May;9(2):89-94. doi: 10.1111/j.1751-2980.2008.00328.x.

PMID:
18419642
19.

Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient.

Liu WL, Li F, He ZX, Jiang HY, Ai R, Chen XX, Huang K.

Mol Med Rep. 2012 Sep;6(3):667-9. doi: 10.3892/mmr.2012.950. Epub 2012 Jun 15.

PMID:
22710376
20.

Function, genetic polymorphism, and transcriptional regulation of human UDP-glucuronosyltransferase (UGT) 1A1.

Sugatani J.

Drug Metab Pharmacokinet. 2013;28(2):83-92. Epub 2012 Oct 23. Review.

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