Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Item
http://www.wikidata.org/entity/Q35078201
The role of the multidisciplinary health care team in the management of patients with Marfan syndromeIdentification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing.Managing aortic aneurysms and dissections during pregnancy.A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial.Mammalian Actins: Isoform-Specific Functions and Diseases.Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection.Endothelium as a Potential Target for Treatment of Abdominal Aortic Aneurysm.Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era.Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
P2860

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Item
http://www.wikidata.org/entity/Q35078201
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
name
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@ast
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@en
type
label
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@ast
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@en
prefLabel
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@ast
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
Gene panel sequencing in herit ...... g in a cohort of 264 patients.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P921
P932