237 related articles for article (PubMed ID: 30285761)
41. Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.
Yildiz D; Alan S; Kilic A; Yaman A; Erdeve O; Kuloglu Z; Atasay B; Arsan S
Genet Couns; 2013; 24(3):273-7. PubMed ID: 24341141
[TBL] [Abstract][Full Text] [Related]
42. Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.
Minucci A; Canu G; Gentile L; Cimino V; Giardina B; Zuppi C; Capoluongo E
Clin Biochem; 2013 Jan; 46(1-2):170-2. PubMed ID: 23099197
[TBL] [Abstract][Full Text] [Related]
43. [Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].
Xiong QF; Zhong YD; Feng XN; Zhou H; Liu DX; Wu XP; Yang YF
Zhonghua Gan Zang Bing Za Zhi; 2018 Dec; 26(12):898-902. PubMed ID: 30669781
[No Abstract] [Full Text] [Related]
44. 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. PubMed ID: 24793765
[TBL] [Abstract][Full Text] [Related]
45. [A family study of the compound heterozygous mutation of the
Luo L; Yao XB; Zheng SJ; Yang WL
Zhonghua Gan Zang Bing Za Zhi; 2023 Feb; 31(2):168-173. PubMed ID: 37137832
[No Abstract] [Full Text] [Related]
46. Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
Labrune P; Myara A; Chalas J; Le Bihan B; Capel L; Francoual J
Hum Mutat; 2002 Nov; 20(5):399-401. PubMed ID: 12402338
[No Abstract] [Full Text] [Related]
47. 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. PubMed ID: 23290513
[TBL] [Abstract][Full Text] [Related]
48. Reduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler-Najjar syndrome type II.
Kummer O; Hammann F; Haschke M; Krähenbühl S
Br J Clin Pharmacol; 2016 May; 81(5):1002-4. PubMed ID: 26692114
[TBL] [Abstract][Full Text] [Related]
49. 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; 36(1):91-7. PubMed ID: 16269258
[TBL] [Abstract][Full Text] [Related]
50. Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
Iolascon A; Meloni A; Coppola B; Rosatelli MC
J Med Genet; 2000 Sep; 37(9):712-3. PubMed ID: 11182932
[No Abstract] [Full Text] [Related]
51. A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I.
Valmiki S; Mandapati KK; Miriyala LKV; Kelgeri CC; Rela M; Shanmugam NP; Vegulada DR
BMC Gastroenterol; 2020 Mar; 20(1):62. PubMed ID: 32143638
[TBL] [Abstract][Full Text] [Related]
52. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.
Clarke DJ; Moghrabi N; Monaghan G; Cassidy A; Boxer M; Hume R; Burchell B
Clin Chim Acta; 1997 Oct; 266(1):63-74. PubMed ID: 9435989
[TBL] [Abstract][Full Text] [Related]
53. Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II.
Seo YS; Keum B; Park S; Kim du R; Kwon YD; Kim YS; Jeen YT; Chun HJ; Um SH; Kim CD; Ryu HS
Scand J Gastroenterol; 2007 Apr; 42(4):540-1. PubMed ID: 17454871
[No Abstract] [Full Text] [Related]
54. Unconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar disease.
Fevery J; Blanckaert N; Heirwegh KP; Préaux AM; Berthelot P
J Clin Invest; 1977 Nov; 60(5):970-9. PubMed ID: 409736
[TBL] [Abstract][Full Text] [Related]
55. [Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene].
Liang C; Luo L; Bai J; Bai L; Bian DD; Ren Y; Liu S; Chen Y; Duan ZP; Zheng SJ
Zhonghua Gan Zang Bing Za Zhi; 2020 May; 28(5):428-433. PubMed ID: 32536060
[No Abstract] [Full Text] [Related]
56. 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. PubMed ID: 18419642
[TBL] [Abstract][Full Text] [Related]
57. The relationship between
Liu D; Yu Q; Ning Q; Liu Z; Song J
Drug Metab Rev; 2022 Feb; 54(1):1-21. PubMed ID: 34807779
[TBL] [Abstract][Full Text] [Related]
58. Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy.
Lee WS; McKiernan PJ; Beath SV; Preece MA; Baty D; Kelly DA; Burchell B; Clarke DJ
Arch Dis Child; 2001 Jul; 85(1):38-42. PubMed ID: 11420196
[TBL] [Abstract][Full Text] [Related]
59. p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II.
Xiong QF; Zhou H; Yang YF
JGH Open; 2020 Oct; 4(5):1009-1011. PubMed ID: 33102778
[TBL] [Abstract][Full Text] [Related]
60. 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. PubMed ID: 18281749
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]