Literature DB >> 26551885

Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.

Gregory Costain1, S Lucy Roche2, Stephen W Scherer3, Candice K Silversides4, Anne S Bassett5.   

Abstract

Entities:  

Keywords:  15q11.2; CACNA1C; Congenital heart disease; Copy number variation; Genetic testing; Timothy syndrome

Mesh：

Substances：

Year:  2015        PMID： 26551885     DOI： 10.1016/j.ijcard.2015.10.216

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


× No keyword cloud information.
  5 in total

1.  Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.

Authors:  Dan Han; Xiaolin Xue; Yang Yan; Guoliang Li
Journal:  Exp Biol Med (Maywood)       Date:  2019-07-19

2.  Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

Authors:  Felippe Borlot; Brigid M Regan; Anne S Bassett; D James Stavropoulos; Danielle M Andrade
Journal:  JAMA Neurol       Date:  2017-11-01       Impact factor: 18.302

3.  Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

Authors:  Zarmiga Karunanithi; Else Marie Vestergaard; Mette H Lauridsen
Journal:  World J Cardiol       Date:  2017-12-26

4.  The importance of copy number variation in congenital heart disease.

Authors:  Gregory Costain; Candice K Silversides; Anne S Bassett
Journal:  NPJ Genom Med       Date:  2016-09-14       Impact factor: 8.617

5.  Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.

Authors:  Elisavet Fotiou; Simon Williams; Alexandra Martin-Geary; David L Robertson; Gennadiy Tenin; Kathryn E Hentges; Bernard Keavney
Journal:  Circ Genom Precis Med       Date:  2019-10-15
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.