| 1 |
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095
)
|
Sun L....Wang P.
|
2017 |
| 2 |
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162
)
|
Fernandes S.R....Velosa J.
|
2016 |
| 3 |
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814
)
|
Wu Y....Hu Y.
|
2016 |
| 4 |
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113
)
|
Li L....Mao Q.
|
2015 |
| 5 |
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421
)
|
Maruo Y....Takeuchi Y.
|
2015 |
| 6 |
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. ( 25319636
)
|
Zheng B....Liu Z.
|
2014 |
| 7 |
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. ( 24401909
)
|
Suzuki M....Koiwai O.
|
2014 |
| 8 |
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086
)
|
Ko J.S....Seo J.K.
|
2014 |
| 9 |
Role of a homozygous A(TA)a88TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate. ( 24065680
)
|
Nilyanimit P....Poovorawan Y.
|
2013 |
| 10 |
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. ( 22633750
)
|
Minucci A....Capoluongo E.
|
2012 |
| 11 |
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. ( 21319362
)
|
Iijima S....Maruo Y.
|
2011 |
| 12 |
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. ( 20843754
)
|
Holstein A....Bryan C.S.
|
2011 |
| 13 |
[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]. ( 20672181
)
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Carriel Mancilla J....CastaA+ares PerdigA^n A.
|
2010 |
| 14 |
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. ( 19752526
)
|
Passuello V....Kohlschmidt N.
|
2009 |
| 15 |
Pregnancy with Crigler-Najjar syndrome type II. ( 19358036
)
|
Arora N....Choudhary S.
|
2009 |
| 16 |
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. ( 18419642
)
|
Wu J.X....Huang J.
|
2008 |
| 17 |
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. ( 17454871
)
|
Seo Y.S....Ryu H.S.
|
2007 |
| 18 |
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. ( 16830281
)
|
Yilmaz S....BeA9taA9 R.
|
2006 |
| 19 |
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. ( 16456422
)
|
Maruo Y....Takeuchi Y.
|
2006 |
| 20 |
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. ( 16211719
)
|
Holstein A....Egberts E.H.
|
2005 |
| 21 |
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11983459
)
|
Kraemer D....Klinker H.
|
2002 |
| 22 |
Kernicterus in a child with Crigler-Najjar Syndrome Type II. ( 12170921
)
|
Poddar B....Parmar V.R.
|
2002 |
| 23 |
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. ( 11330728
)
|
Ito T....Terakawa N.
|
2001 |
| 24 |
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. ( 11668224
)
|
Huang C.S....Chao Y.C.
|
2001 |
| 25 |
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11182932
)
|
Iolascon A....Rosatelli M.C.
|
2000 |
| 26 |
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. ( 10364060
)
|
Ishihara T....Adachi Y.
|
1999 |
| 27 |
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. ( 9621515
)
|
Yamamoto K....Bamba T.
|
1998 |
| 28 |
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. ( 9630669
)
|
Yamamoto K....Bamba T.
|
1998 |
| 29 |
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. ( 8733132
)
|
Koiwai O....Sato H.
|
1996 |
| 30 |
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. ( 7821116
)
|
GA1ldA1tuna S....Leuschner U.
|
1995 |
| 31 |
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. ( 8514037
)
|
Bosma P.J....Jansen P.L.
|
1993 |
| 32 |
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. ( 8280139
)
|
Aono S....Koiwai O.
|
1993 |
| 33 |
Crigler-Najjar syndrome type II with kernicterus. ( 3443510
)
|
Thapa B.R....Mehta S.
|
1987 |
| 34 |
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. ( 6872808
)
|
Trotman B.W....Rosato E.F.
|
1983 |
| 35 |
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. ( 1261771
)
|
Gordon E.R....Sass-Kortsak A.
|
1976 |
