Search details
1.
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Connect Tissue Res
; 65(3): 214-225, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38602424
2.
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
BMC Cardiovasc Disord
; 21(1): 413, 2021 08 30.
Article
in English
| MEDLINE | ID: mdl-34461831
3.
Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.
J Clin Lab Anal
; 35(6): e23813, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33969541
4.
A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese.
J Clin Lab Anal
; 35(6): e23782, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33942374
5.
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
BMC Med Genet
; 21(1): 144, 2020 07 06.
Article
in English
| MEDLINE | ID: mdl-32631253
6.
A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.
Cardiology
; 145(10): 623-632, 2020.
Article
in English
| MEDLINE | ID: mdl-32818936
7.
An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1 mutation fathered a normal son evidenced by prenatal genetic diagnosis.
Andrologia
; 52(11): e13821, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32990989
8.
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.
BMC Med Genet
; 20(1): 91, 2019 05 27.
Article
in English
| MEDLINE | ID: mdl-31132985
9.
Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
Hum Mutat
; 39(9): 1238-1245, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29920840
10.
A laboratory viewpoint of the consensus paper from the European Society of Cardiology regarding the utilization of the American College of Medical Genetics and Genomics pathogenic criteria for cardiomyopathy.
Eur Heart J
; 43(27): 2636-2637, 2022 07 14.
Article
in English
| MEDLINE | ID: mdl-35598037
11.
Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.
J Transl Med
; 12: 173, 2014 Jun 17.
Article
in English
| MEDLINE | ID: mdl-24938736
12.
Study on the spatial and temporal correlation and allometric growth mechanism between population aging and carbon emissions in China.
Environ Sci Pollut Res Int
; 31(1): 634-656, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38015393
13.
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
BMC Med Genomics
; 17(1): 104, 2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38659011
14.
Cellulose nanocrystal/halloysite nanotube composite aerogels for water purification.
Dalton Trans
; 52(36): 12968-12977, 2023 Sep 19.
Article
in English
| MEDLINE | ID: mdl-37650238
15.
Cellulose Nanocrystal Gels with Tunable Mechanical Properties from Hybrid Thermal Strategies.
ACS Appl Mater Interfaces
; 15(6): 8406-8414, 2023 Feb 15.
Article
in English
| MEDLINE | ID: mdl-36719931
16.
Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature.
Front Med
; 17(4): 768-780, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37121957
17.
Polymorphism of tumor necrosis factor alpha (TNF-alpha) gene promoter, circulating TNF-alpha level, and cardiovascular risk factor for ischemic stroke.
J Neuroinflammation
; 9: 235, 2012 Oct 10.
Article
in English
| MEDLINE | ID: mdl-23050663
18.
FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review.
Genes (Basel)
; 13(10)2022 10 12.
Article
in English
| MEDLINE | ID: mdl-36292727
19.
Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection.
Front Genet
; 13: 778806, 2022.
Article
in English
| MEDLINE | ID: mdl-35154271
20.
The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia.
Front Med (Lausanne)
; 9: 915649, 2022.
Article
in English
| MEDLINE | ID: mdl-35783621