Detalhe da pesquisa
1.
Microcystin-leucine-arginine promotes the development of gallbladder carcinoma via regulating ELAC2.
Biochem Biophys Res Commun
; 671: 350-356, 2023 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37329658
2.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31230720
3.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33443317
4.
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Genome Res
; 28(8): 1228-1242, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29907612
5.
MC-LR-induced interaction between M2 macrophage and biliary epithelial cell promotes biliary epithelial cell proliferation and migration through regulating STAT3.
Cell Biol Toxicol
; 37(6): 935-949, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33474710
6.
Expression analysis of microRNAs and mRNAs in myofibroblast differentiation of lung resident mesenchymal stem cells.
Differentiation
; 112: 10-16, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31838455
7.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31696996
8.
Microcystin-leucine-arginine induces liver fibrosis by activating the Hedgehog pathway in hepatic stellate cells.
Biochem Biophys Res Commun
; 533(4): 770-778, 2020 12 17.
Artigo
Inglês
| MEDLINE | ID: mdl-32988585
9.
LRRK2 Is Associated with Recurrence-Free Survival in Intrahepatic Cholangiocarcinoma and Downregulation of LRRK2 Suppresses Tumor Progress In Vitro.
Dig Dis Sci
; 65(2): 500-508, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31489563
10.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27640307
11.
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Nucleic Acids Res
; 45(4): 1633-1648, 2017 02 28.
Artigo
Inglês
| MEDLINE | ID: mdl-27980096
12.
Mechanisms for Complex Chromosomal Insertions.
PLoS Genet
; 12(11): e1006446, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27880765
13.
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Hum Mutat
; 39(7): 939-946, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29696747
14.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26544804
15.
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
Prenat Diagn
; 38(11): 858-865, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30094853
16.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27577878
17.
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Hum Mol Genet
; 24(14): 4061-77, 2015 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25908615
18.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genet Med
; 19(4): 412-420, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27657687
19.
Anatomical versus non-anatomical resection for solitary hepatocellular carcinoma without macroscopic vascular invasion: A propensity score matching analysis.
J Gastroenterol Hepatol
; 32(4): 870-878, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27671209
20.
Mutation Detection of Fibroblast Growth Factor Receptor 3 for Infiltrative Hepatocellular Carcinoma by Whole-Exome Sequencing.
Dig Dis Sci
; 62(2): 407-417, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28058595