239 related articles for article (PubMed ID: 30285761)
1. Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
Gailite L; Rots D; Pukite I; Cernevska G; Kreile M
BMC Pediatr; 2018 Oct; 18(1):317. PubMed ID: 30285761
[TBL] [Abstract][Full Text] [Related]
2. Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Cozzi L; Nuti F; Degrassi I; Civeriati D; Paolella G; Nebbia G
Ital J Pediatr; 2022 Apr; 48(1):59. PubMed ID: 35436954
[TBL] [Abstract][Full Text] [Related]
3. A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report.
Shi X; Aronson S; Khan AS; Bosma PJ
BMC Pediatr; 2019 May; 19(1):173. PubMed ID: 31142299
[TBL] [Abstract][Full Text] [Related]
4. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
Maruo Y; Poon KK; Ito M; Iwai M; Takahashi H; Mori A; Sato H; Takeuchi Y
Clin Genet; 2003 Nov; 64(5):420-3. PubMed ID: 14616765
[TBL] [Abstract][Full Text] [Related]
5. Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.
Liaqat A; Shahid A; Attiq H; Ameer A; Imran M
J Coll Physicians Surg Pak; 2018 Oct; 28(10):806-808. PubMed ID: 30266131
[TBL] [Abstract][Full Text] [Related]
6. [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; 146(32):1488-90. PubMed ID: 12198827
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22340355
[TBL] [Abstract][Full Text] [Related]
8. Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.
Zheng B; Hu G; Yu J; Liu Z
BMC Pediatr; 2014 Oct; 14():267. PubMed ID: 25319636
[TBL] [Abstract][Full Text] [Related]
9. Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
Sampietro M; Iolascon A
Haematologica; 1999 Feb; 84(2):150-7. PubMed ID: 10091414
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 15304120
[TBL] [Abstract][Full Text] [Related]
11. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Maruo Y; Nakahara S; Yanagi T; Nomura A; Mimura Y; Matsui K; Sato H; Takeuchi Y
J Gastroenterol Hepatol; 2016 Feb; 31(2):403-8. PubMed ID: 26250421
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 11013440
[TBL] [Abstract][Full Text] [Related]
13. Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene.
Ciotti M; Werlin SL; Owens IS
J Pediatr Gastroenterol Nutr; 1999 Feb; 28(2):210-3. PubMed ID: 9932859
[No Abstract] [Full Text] [Related]
14. [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; 97(9):528-32. PubMed ID: 12371080
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
Trabelsi N; Chaouch L; Haddad F; Jaouani M; Barkaoui E; Darragi I; Chaouachi D; Boudrigua I; Menif S; Abbes S
Eur J Med Genet; 2021 Feb; 64(2):104139. PubMed ID: 33421605
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 15712364
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23992562
[TBL] [Abstract][Full Text] [Related]
18. Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
Maruo Y; Topaloglu AK; Takahashi H; Mori A; Iwai M; Duzovali O; Yamamoto K; Matui K; Sato H; Takeuchi Y
J Pediatr Gastroenterol Nutr; 2006 Feb; 42(2):236-9. PubMed ID: 16456422
[No Abstract] [Full Text] [Related]
19. [Genetic analysis of a child affected with Crigler-Najjar syndrome type II].
Wu Y; Li G; Zhou Y; Li J; Hu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):328-31. PubMed ID: 27264814
[TBL] [Abstract][Full Text] [Related]
20. Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
Aggarwal V; Seth A; Sharma S; Aneja S; Sammarco P; Fabiano C
Pediatr Blood Cancer; 2010 Apr; 54(4):627-8. PubMed ID: 19953640
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]