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Items: 1 to 20 of 111

1.

Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient.

Minucci A, Canu G, Tellone E, Giardina B, Zuppi C, Capoluongo E.

Blood Cells Mol Dis. 2012 Aug 15;49(2):118-9. doi: 10.1016/j.bcmd.2012.05.004. Epub 2012 May 25. No abstract available.

PMID:
22633750
2.

Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.

Minucci A, Ruggiero A, Canu G, Maurizi P, De Bonis M, Concolino P, De Luca D, Capoluongo E.

Pediatr Blood Cancer. 2015 Sep;62(9):1680-1. doi: 10.1002/pbc.25500. Epub 2015 Mar 27. No abstract available.

PMID:
25822733
3.

The first reported case of G6PD deficiency due to Seoul mutation in Poland.

Kaczorowska-Hac B, Burzynska B, Plochocka D, Zak-Jasinska K, Rawa K, Adamkiewicz-Drozynska E.

Ann Hematol. 2014 May;93(5):879-80. No abstract available.

4.

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
5.

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
6.

Assessment of UGT polymorphisms and neonatal jaundice.

Bartlett MG, Gourley GR.

Semin Perinatol. 2011 Jun;35(3):127-33. doi: 10.1053/j.semperi.2011.02.006. Review.

PMID:
21641485
7.
8.

Liver bilirubin UDP-glucuronosyltransferase activity in chronic nonhemolytic unconjugated hyperbilirubinemia of adults.

Watanabe A, Wakabayashi H, Kuwabara Y, Yamamoto H, Hattori S, Tsuji T.

Res Exp Med (Berl). 1998 Apr;197(6):329-36.

PMID:
9638795
9.

Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia.

Huang MJ, Yang YC, Yang SS, Lin MS, Chen ES, Huang CS.

Pharmacogenetics. 2002 Nov;12(8):663-6.

PMID:
12439228
10.

[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
11.
12.

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
13.

Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese.

Huang CS.

J Biomed Sci. 2005;12(3):445-50. Review.

PMID:
15965581
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
16.

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
17.
18.
19.

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
20.

Genetics and pediatric unconjugated hyperbilirubinemia.

Watchko JF.

J Pediatr. 2013 Jun;162(6):1092-4. doi: 10.1016/j.jpeds.2013.01.044. Epub 2013 Feb 27. No abstract available.

PMID:
23453772

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