Detalhe da pesquisa
1.
Association between CYP2C9 and VKORC1 genetic polymorphisms and efficacy and safety of warfarin in Chinese patients.
Pharmacogenet Genomics
; 34(4): 105-116, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470454
2.
Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.
Mov Disord
; 39(3): 498-509, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148610
3.
Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
J Cell Physiol
; 237(6): 2713-2723, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621037
4.
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Liver Int
; 42(2): 402-411, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811877
5.
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
6.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
7.
Genetic Associations With Stable Warfarin Dose Requirements in Han Chinese Patients.
J Cardiovasc Pharmacol
; 78(1): e105-e111, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958549
8.
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
Hum Mutat
; 41(2): 502-511, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696999
9.
HLA-A*02:01 allele is associated with tanshinone-induced cutaneous drug reactions in Chinese population.
Pharmacogenomics J
; 20(3): 408-414, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792370
10.
Role of microRNA-145 in protection against myocardial ischemia/reperfusion injury in mice by regulating expression of GZMK with the treatment of sevoflurane.
J Cell Physiol
; 234(9): 16526-16539, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873621
11.
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
N Engl J Med
; 374(3): 223-32, 2016 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789871
12.
Comprehensive Transcriptomic Analysis of Mouse Gonadal Development Involving Sexual Differentiation, Meiosis and Gametogenesis.
Biol Proced Online
; 21: 20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636514
13.
HLA-C*12:02 is strongly associated with Xuesaitong-induced cutaneous adverse drug reactions.
Pharmacogenomics J
; 19(3): 277-285, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237582
14.
SPRINT: an SNP-free toolkit for identifying RNA editing sites.
Bioinformatics
; 33(22): 3538-3548, 2017 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036410
15.
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.
BMC Med Genet
; 19(1): 139, 2018 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086703
16.
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
17.
The DNA methylation status of genes encoding Matrix metalloproteinases and tissue inhibitors of Matrix metalloproteinases in endometriosis.
Mol Reprod Dev
; 85(1): 17-25, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266528
18.
Clinical, Viral and Genetic Characteristics of Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) in Shanghai, China.
Acta Derm Venereol
; 98(4): 401-405, 2018 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29242946
19.
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.
J Cell Mol Med
; 21(4): 802-815, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27885802
20.
p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.
J Cell Mol Med
; 21(10): 2465-2480, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382689