Detalhe da pesquisa
1.
Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.
Liver Int
; 41(11): 2720-2728, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369070
2.
Development of a carboxymethyl chitosan functionalized nanoemulsion formulation for increasing aqueous solubility, stability and skin permeability of astaxanthin using low-energy method.
J Microencapsul
; 34(8): 707-721, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141479
3.
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.
Tohoku J Exp Med
; 233(4): 275-81, 2014 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110155
4.
[Deep sequencing for cholecystokinin a receptor gene to get loci associated with schizophrenia].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 36(5): 466-9, 2014 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-25360641
5.
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13.
Eur J Med Genet
; 64(3): 104145, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33497767
6.
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.
Transl Pediatr
; 10(6): 1658-1667, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34295780
7.
[Detection of urine DD3/PSA mRNA ratio by duplex TaqMan RT-PCR assay and evolution of its primary application].
Zhonghua Yi Xue Za Zhi
; 88(4): 261-4, 2008 Jan 22.
Artigo
em Zh
| MEDLINE | ID: mdl-18361839
8.
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
Exp Ther Med
; 12(5): 3294-3300, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27882152
9.
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
Mol Med Rep
; 14(6): 5189-5194, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27779681
10.
Comparative analyses of fungicide sensitivity and SSR marker variations indicate a low risk of developing azoxystrobin resistance in Phytophthora infestans.
Sci Rep
; 6: 20483, 2016 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26853908
11.
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Sci Rep
; 6: 29732, 2016 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27405544
12.
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
PLoS One
; 9(2): e89267, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586645
13.
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
Int J Mol Med
; 34(5): 1241-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25216257
14.
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
PLoS One
; 8(9): e74544, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24069319
15.
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.
Int J Mol Med
; 28(1): 33-40, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21424115