| 1 |
Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth. ( 30266131
)
|
Liaqat A...Imran M
|
2018 |
| 2 |
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 |
| 3 |
Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults. ( 28892962
)
|
Kumar P...Kohli S
|
2017 |
| 4 |
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162
)
|
Fernandes SR...Velosa J
|
2016 |
| 5 |
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421
)
|
Maruo Y...Takeuchi Y
|
2016 |
| 6 |
Reduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler-Najjar syndrome type II. ( 26692114
)
|
Kummer O...Kr?henb?hl S
|
2016 |
| 7 |
Management of pregnancy in Crigler Najjar syndrome type 2. ( 27099654
)
|
Chaubal AN...Sawant P
|
2016 |
| 8 |
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814
)
|
Wu Y...Hu Y
|
2016 |
| 9 |
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2. ( 25966095
)
|
Tesapirat L...Poovorawan Y
|
2015 |
| 10 |
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113
)
|
Li L...Mao Q
|
2015 |
| 11 |
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 |
| 12 |
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086
)
|
Ko JS...Seo JK
|
2014 |
| 13 |
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 |
| 14 |
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. ( 24065680
)
|
Nilyanimit P...Poovorawan Y
|
2013 |
| 15 |
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 |
| 16 |
UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2. ( 22722682
)
|
Pe?a L...Baiget M
|
2012 |
| 17 |
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. ( 23162302
)
|
Nair KM...Nampoothiri S
|
2012 |
| 18 |
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. ( 21319362
)
|
Iijima S...Maruo Y
|
2011 |
| 19 |
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. ( 20843754
)
|
Holstein A...Bryan CS
|
2011 |
| 20 |
Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review. ( 25755387
)
|
Ranjan P...Thakur S
|
2011 |
| 21 |
[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]. ( 20672181
)
|
Carriel Mancilla J...Casta?ares Perdig?n A
|
2010 |
| 22 |
Pregnancy with Crigler-Najjar syndrome type II. ( 19358036
)
|
Arora N...Choudhary S
|
2009 |
| 23 |
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. ( 19752526
)
|
Passuello V...Kohlschmidt N
|
2009 |
| 24 |
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. ( 19243019
)
|
Lin R...Jin L
|
2009 |
| 25 |
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. ( 18419642
)
|
Wu JX...Huang J
|
2008 |
| 26 |
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. ( 17454871
)
|
Seo YS...Ryu HS
|
2007 |
| 27 |
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. ( 17496722
)
|
Hsieh TY...Chao YC
|
2007 |
| 28 |
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. ( 18004206
)
|
Udomuksorn W...Miners JO
|
2007 |
| 29 |
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 |
| 30 |
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. ( 16830281
)
|
Yilmaz S...Be?ta? R
|
2006 |
| 31 |
Crigler-Najjar syndrome type 2. ( 17098698
)
|
Huang CS...Huang MJ
|
2006 |
| 32 |
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. ( 16211719
)
|
Holstein A...Egberts EH
|
2005 |
| 33 |
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. ( 16114182
)
|
Edison ES...Chandy M
|
2005 |
| 34 |
Global gene expression as a function of germline genetic variation. ( 15857854
)
|
French D...Relling MV
|
2005 |
| 35 |
Pharmacogenetics and drug development: the path to safer and more effective drugs. ( 15372086
)
|
Roses AD
|
2004 |
| 36 |
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. ( 12859413
)
|
Fertrin KY...Costa FF
|
2003 |
| 37 |
Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II. ( 14550264
)
|
Ohnishi A...Emi Y
|
2003 |
| 38 |
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. ( 12850492
)
|
Premawardhena A...Weatherall DJ
|
2003 |
| 39 |
Kernicterus in a child with Crigler-Najjar Syndrome Type II. ( 12170921
)
|
Poddar B...Parmar VR
|
2002 |
| 40 |
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 |
| 41 |
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. ( 12402338
)
|
Labrune P...Francoual J
|
2002 |
| 42 |
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. ( 11370628
)
|
Kadakol A...Chowdhury NR
|
2001 |
| 43 |
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. ( 11330728
)
|
Ito T...Terakawa N
|
2001 |
| 44 |
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. ( 11668224
)
|
Huang CS...Chao YC
|
2001 |
| 45 |
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. ( 11425418
)
|
Premawardhena A...Weatherall DJ
|
2001 |
| 46 |
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. ( 10968441
)
|
Kaplan M...Levy-Lahad E
|
2000 |
| 47 |
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. ( 11003624
)
|
Borlak J...Hermann R
|
2000 |
| 48 |
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11182932
)
|
Iolascon A...Rosatelli MC
|
2000 |
| 49 |
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. ( 11061796
)
|
Maruo Y...Shimada M
|
2000 |
| 50 |
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. ( 10190918
)
|
Monaghan G...Burchell B
|
1999 |
