Detalhe da pesquisa
1.
A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.
Int J Mol Sci
; 24(3)2023 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769350
2.
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
Am J Hum Genet
; 102(2): 219-232, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336782
3.
Genetic risk score constructed from common genetic variants is associated with cardiovascular disease risk in type 2 diabetes mellitus.
J Gene Med
; 23(2): e3305, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350037
4.
Association of an IGHV3-66 gene variant with Kawasaki disease.
J Hum Genet
; 66(5): 475-489, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106546
5.
Immunoglobulin profiling identifies unique signatures in patients with Kawasaki disease during intravenous immunoglobulin treatment.
Hum Mol Genet
; 27(15): 2671-2677, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771320
6.
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Am J Hum Genet
; 100(1): 51-63, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017375
7.
Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.
J Biomed Sci
; 27(1): 92, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32887585
8.
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
Hum Mol Genet
; 26(9): 1770-1784, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334899
9.
Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning.
J Biomed Sci
; 26(1): 91, 2019 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699087
10.
Identification of functional single nucleotide polymorphisms in the branchpoint site.
Hum Genomics
; 11(1): 27, 2017 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121990
11.
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Hum Mutat
; 38(5): 540-547, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145000
12.
Variant GADL1 and response to lithium therapy in bipolar I disorder.
N Engl J Med
; 370(2): 119-28, 2014 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369049
13.
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
Mol Genet Metab
; 121(1): 22-27, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377241
14.
CXCL10/IP-10 is a biomarker and mediator for Kawasaki disease.
Circ Res
; 116(5): 876-83, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25605650
15.
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.
BMC Genomics
; 17: 266, 2016 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27029637
16.
Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.
Hum Genet
; 135(11): 1287-1294, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27503288
17.
Measurement of Pre-Existing IgG and IgM Antibodies against Polyethylene Glycol in Healthy Individuals.
Anal Chem
; 88(21): 10661-10666, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27726379
18.
Identification of Susceptible Loci and Enriched Pathways for Bipolar II Disorder Using Genome-Wide Association Studies.
Int J Neuropsychopharmacol
; 19(12)2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450446
19.
PSORS2 is due to mutations in CARD14.
Am J Hum Genet
; 90(5): 784-95, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521418
20.
Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population.
BMC Genomics
; 15: 81, 2014 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476119