Detalhe da pesquisa
1.
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Gastroenterology
; 161(1): 287-300.e16, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771553
2.
Cholestasis Due to USP53 Deficiency.
J Pediatr Gastroenterol Nutr
; 72(5): 667-673, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075013
3.
Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.
J Pediatr Gastroenterol Nutr
; 73(4): 478-484, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310436
4.
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
J Pediatr Gastroenterol Nutr
; 73(2): 169-177, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34016879
5.
Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses.
Lancet
; 393(10174): 899-909, 2019 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773280
6.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology
; 70(3): 899-910, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664273
7.
Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis.
Hepatology
; 65(5): 1645-1654, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027587
8.
ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
Hepatology
; 64(1): 161-74, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26926206
9.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
J Hepatol
; 65(6): 1179-1187, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27469900
10.
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Gastroenterology
; 144(5): 945-955.e6; quiz e14-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23415802
11.
ISPAD Annual Conference 2017 Highlights.
Pediatr Diabetes
; 19(5): 855-858, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29968361
12.
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Nat Genet
; 34(1): 91-6, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12704386
13.
ATP8B1 is essential for maintaining normal hearing.
Proc Natl Acad Sci U S A
; 106(24): 9709-14, 2009 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19478059
14.
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Hepatol Commun
; 6(3): 473-479, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34677006
15.
Treating genetic disease: Expanding the options.
Hepatology
; 62(2): 349-51, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820708
16.
Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.
World J Clin Cases
; 9(15): 3631-3636, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046462
17.
Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis.
Lancet Gastroenterol Hepatol
; 6(7): 547-558, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33915090
18.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
J Hepatol
; 53(1): 170-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447715
19.
Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test.
Hepatology
; 59(4): 1220-2, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123247
20.
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.
Gastroenterology
; 134(7): 2091-100, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18466903