Detalhe da pesquisa
1.
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
J Hum Genet
; 67(10): 573-577, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35691949
2.
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
Hum Genet
; 140(5): 761-773, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389130
3.
The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.
BMC Cardiovasc Disord
; 21(1): 12, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413087
4.
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
J Hum Genet
; 64(3): 249-252, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504913
5.
Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
J Hum Genet
; 64(8): 829, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178588
6.
miR-195 inhibited abnormal activation of osteoblast differentiation in MC3T3-E1 cells via targeting RAF-1.
Exp Cell Res
; 362(2): 293-301, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29197556
7.
Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient.
BMC Med Genet
; 19(1): 111, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976160
8.
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
Cardiol Young
; 28(12): 1410-1414, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109841
9.
[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 268-271, 2018 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-29653008
10.
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Cytogenet Genome Res
; 152(1): 16-21, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28658676
11.
A Targeted, Next-Generation Genetic Sequencing Study on Tetralogy of Fallot, Combined With Cleft Lip and Palate.
J Craniofac Surg
; 28(4): e351-e355, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28230599
12.
Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
Am J Med Genet A
; 167A(12): 3174-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26383923
13.
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
BMC Med Genomics
; 17(1): 136, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773541
14.
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.
Front Med
; 18(3): 558-564, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684630
15.
In vivo effects on intron retention and exon skipping by the U2AF large subunit and SF1/BBP in the nematode Caenorhabditis elegans.
RNA
; 17(12): 2201-11, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22033331
16.
Case report: A new de novo mutation of the Troponin T2 gene in a Chinese patient with dilated cardiomyopathy.
Front Cardiovasc Med
; 10: 1288328, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054088
17.
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
Front Med
; 17(5): 957-971, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314648
18.
Identification of circRNA-miRNA-mRNA regulatory network and its role in cardiac hypertrophy.
PLoS One
; 18(3): e0279638, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952519
19.
Neoadjuvant and adjuvant chemotherapy share equivalent efficacy in improving overall survival and cancer-specific survival among muscle invasive bladder cancer patients who undergo radical cystectomy: a retrospective cohort study based on SEER database.
Transl Androl Urol
; 12(2): 330-346, 2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36915890
20.
A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma.
Front Pharmacol
; 14: 1120562, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021054