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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32737136
2.
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Liver Int
; 40(5): 1142-1150, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32124521
3.
Molecular findings in children with inherited intrahepatic cholestasis.
Pediatr Res
; 87(1): 112-117, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31450232
4.
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
Hum Mutat
; 40(12): 2247-2257, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31479177
5.
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Hepatology
; 65(5): 1655-1669, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28027573
6.
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
Liver Int
; 38(9): 1676-1685, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29412511
7.
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase.
Hepatol Res
; 48(7): 574-584, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29316097
8.
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
BMC Gastroenterol
; 17(1): 77, 2017 Jun 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-28629372
9.
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr
; 65(5): 561-568, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28937538
10.
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
BMC Gastroenterol
; 16(1): 92, 2016 Aug 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27520927
11.
Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
J Mol Diagn
; 23(11): 1491-1499, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34543749
12.
Recurrent acute liver failure associated with novel SCYL1 mutation: A case report.
World J Clin Cases
; 7(4): 494-499, 2019 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30842961
13.
Δ4-3-oxosteroid-5ß-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
World J Gastroenterol
; 25(7): 859-869, 2019 Feb 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-30809085
14.
Anti-inflammatory and anti-arthritic properties of naringenin via attenuation of NF-κB and activation of the heme oxygenase ï´¾HOï´¿-1/related factor 2 pathway.
Pharmacol Rep
; 69(5): 1021-1029, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28943290
15.
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
PLoS One
; 11(10): e0164058, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27706244
16.
Citrin deficiency presenting as acute liver failure in an eight-month-old infant.
World J Gastroenterol
; 21(23): 7331-4, 2015 Jun 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-26109823
17.
Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review).
Biomed Rep
; 2(1): 41-52, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24649067
18.
Antiproliferative effect of the Ginkgo biloba extract is associated with the enhancement of cytochrome P450 1B1 expression in estrogen receptor-negative breast cancer cells.
Biomed Rep
; 1(5): 797-801, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24649031
19.
Lentivirus-mediated RNA interference targeting Bax inhibitor-1 suppresses ex vivo cell proliferation and in vivo tumor growth of nasopharyngeal carcinoma.
Hum Gene Ther
; 22(10): 1201-8, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21545297
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