Literature DB >> 25342769

Copy number variants and the genetic enigma of congenital heart disease.

Ali J Marian1.   

Abstract

Entities:  

Keywords:  Editorials; copy number variants, DNA; genetics; mutation

Mesh：

Year:  2014        PMID： 25342769      PMCID： PMC4212159          DOI： 10.1161/CIRCRESAHA.114.305243

Source DB:  PubMed          Journal:  Circ Res        ISSN： 0009-7330            Impact factor:   17.367


× No keyword cloud information.
  36 in total

Review 1.  Complex genetics and the etiology of human congenital heart disease.

Authors:  Bruce D Gelb; Wendy K Chung
Journal:  Cold Spring Harb Perspect Med       Date:  2014-07-01       Impact factor: 6.915

2.  Misregulation of SDF1-CXCR4 signaling impairs early cardiac neural crest cell migration leading to conotruncal defects.

Authors:  Sophie Escot; Cédrine Blavet; Sonja Härtle; Jean-Loup Duband; Claire Fournier-Thibault
Journal:  Circ Res       Date:  2013-07-09       Impact factor: 17.367

3.  Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Authors:  Q Y Li; R A Newbury-Ecob; J A Terrett; D I Wilson; A R Curtis; C H Yi; T Gebuhr; P J Bullen; S C Robson; T Strachan; D Bonnet; S Lyonnet; I D Young; J A Raeburn; A J Buckler; D J Law; J D Brook
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

4.  Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

Authors:  C T Basson; D R Bachinsky; R C Lin; T Levi; J A Elkins; J Soults; D Grayzel; E Kroumpouzou; T A Traill; J Leblanc-Straceski; B Renault; R Kucherlapati; J G Seidman; C E Seidman
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

Review 5.  CtBP, an unconventional transcriptional corepressor in development and oncogenesis.

Authors:  G Chinnadurai
Journal:  Mol Cell       Date:  2002-02       Impact factor: 17.970

6.  Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease.

Authors:  R Whittemore; J C Hobbins; M A Engle
Journal:  Am J Cardiol       Date:  1982-09       Impact factor: 2.778

7.  Csx: a murine homeobox-containing gene specifically expressed in the developing heart.

Authors:  I Komuro; S Izumo
Journal:  Proc Natl Acad Sci U S A       Date:  1993-09-01       Impact factor: 11.205

Review 8.  Understanding the role of ETS-mediated gene regulation in complex biological processes.

Authors:  Victoria J Findlay; Amanda C LaRue; David P Turner; Patricia M Watson; Dennis K Watson
Journal:  Adv Cancer Res       Date:  2013       Impact factor: 6.242

9.  Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Authors:  Joseph T Glessner; Alexander G Bick; Kaoru Ito; Jason Homsy; Laura Rodriguez-Murillo; Menachem Fromer; Erica Mazaika; Badri Vardarajan; Michael Italia; Jeremy Leipzig; Steven R DePalma; Ryan Golhar; Stephan J Sanders; Boris Yamrom; Michael Ronemus; Ivan Iossifov; A Jeremy Willsey; Matthew W State; Jonathan R Kaltman; Peter S White; Yufeng Shen; Dorothy Warburton; Martina Brueckner; Christine Seidman; Elizabeth Goldmuntz; Bruce D Gelb; Richard Lifton; Jonathan Seidman; Hakon Hakonarson; Wendy K Chung
Journal:  Circ Res       Date:  2014-09-09       Impact factor: 17.367

Review 10.  Genetic cardiomyopathies causing heart failure.

Authors:  Thomas J Cahill; Houman Ashrafian; Hugh Watkins
Journal:  Circ Res       Date:  2013-08-30       Impact factor: 17.367
View more
  4 in total

1.  Chromosomal microarray analysis for the detection of chromosome abnormalities in fetuses with echogenic intracardiac focus in women without high-risk factors.

Authors:  Min He; Zhu Zhang; Ting Hu; Shanling Liu
Journal:  Medicine (Baltimore)       Date:  2020-01       Impact factor: 1.889

Review 2.  A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany.

Authors:  Thomas Pickardt; Eva Niggemeyer; Ulrike M M Bauer; Hashim Abdul-Khaliq
Journal:  Genomics Proteomics Bioinformatics       Date:  2016-04-27       Impact factor: 7.691

3.  Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.

Authors:  Yuejuan Xu; Tingting Li; Tian Pu; Ruixue Cao; Fei Long; Sun Chen; Kun Sun; Rang Xu
Journal:  Twin Res Hum Genet       Date:  2017-12       Impact factor: 1.587

4.  Contribution of Congenital Heart Disorders Associated With Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence From 20-Year Retrospective Cohort Study.

Authors:  Luke Dowden; David Tucker; Sian Morgan; Orhan Uzun; Yasir Ahmed Syed
Journal:  Front Cardiovasc Med       Date:  2021-07-15
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.