Detalhe da pesquisa
1.
Generation of rat pancreas in mouse by interspecific blastocyst injection of pluripotent stem cells.
Cell
; 142(5): 787-99, 2010 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20813264
2.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clin Genet
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553872
3.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int
; 43(5): 1089-1095, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938759
4.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Brain
; 144(10): 3036-3049, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037727
5.
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pediatr Transplant
; 26(6): e14318, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35633129
6.
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
J Med Genet
; 58(8): 514-525, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737136
7.
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
Hum Mutat
; 41(2): 502-511, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696999
8.
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Liver Int
; 40(11): 2788-2796, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808743
9.
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Liver Int
; 40(5): 1142-1150, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124521
10.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet
; 99(2): 414-22, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426735
11.
Fatherhood after liver transplantation for severe ATP8B1 disease.
Pediatr Transplant
; 28(1): e14639, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37941322
12.
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr
; 68(1): e1-e6, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30589726
13.
Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation.
Pediatr Dev Pathol
; : 10935266231222712, 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401151
14.
Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.
Pediatr Dev Pathol
; 22(4): 365-369, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30497332
15.
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Hepatology
; 65(5): 1655-1669, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027573
16.
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
Liver Int
; 38(9): 1676-1685, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29412511
17.
Vps33b is crucial for structural and functional hepatocyte polarity.
J Hepatol
; 66(5): 1001-1011, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082148
18.
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.
Hepatology
; 63(2): 524-37, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26516723
19.
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
BMC Gastroenterol
; 17(1): 77, 2017 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28629372
20.
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr
; 65(5): 561-568, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28937538