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Results: 1 to 20 of 137

Related Citations for PubMed (Select 22710376)

1.

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
2.

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.

3.

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
4.
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.

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.

7.

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.

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10.

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
11.

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
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;19(9):1023-8.

PMID:
15304120
14.

Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China.

Nong SH, Xie YM, Chan KW, Cheung PT.

J Paediatr Child Health. 2005 May-Jun;41(5-6):300-2.

PMID:
15953334
15.
16.

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;124(23):4109-11.

PMID:
22340355
17.

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 Jan-Feb;36(1):91-7. Epub 2005 Nov 2.

PMID:
16269258
18.

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.

19.

[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
20.

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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