Literature DB >> 18076106

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.

Maximilian G Posch1, Andreas Perrot, Katharina Schmitt, Sebastian Mittelhaus, Eva-Maria Esenwein, Brigitte Stiller, Christian Geier, Rainer Dietz, Reinhard Gessner, Cemil Ozcelik, Felix Berger.   

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Year:  2008        PMID： 18076106     DOI： 10.1002/ajmg.a.32042

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  37 in total

1.  Novel NKX2-5 mutations in patients with familial atrial septal defects.

Authors:  Xing-Yuan Liu; Juan Wang; Yi-Qing Yang; Yang-Yang Zhang; Xiao-Zhong Chen; Wei Zhang; Xiao-Zhou Wang; Jing-Hao Zheng; Yi-Han Chen
Journal:  Pediatr Cardiol       Date:  2010-12-25       Impact factor: 1.655

2.  Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Authors:  Samaneh Zhian; John Belmont; Cheryl L Maslen
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

3.  A single GATA factor plays discrete, lineage specific roles in ascidian heart development.

Authors:  Katerina Ragkousi; Jeni Beh; Sarah Sweeney; Ella Starobinska; Brad Davidson
Journal:  Dev Biol       Date:  2011-01-14       Impact factor: 3.582

4.  A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.

Authors:  Yi-Qing Yang; Li Li; Juan Wang; Xing-Yuan Liu; Xiao-Zhong Chen; Wei Zhang; Xiao-Zhou Wang; Jin-Qi Jiang; Xu Liu; Wei-Yi Fang
Journal:  Pediatr Cardiol       Date:  2011-11-20       Impact factor: 1.655

Review 5.  Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Authors:  Terence Prendiville; Patrick Y Jay; William T Pu
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

6.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

7.  Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Authors:  Kristen N Stevens; Hakon Hakonarson; Cecilia E Kim; Pieter A Doevendans; Bobby P C Koeleman; Seema Mital; Jennifer Raue; Joseph T Glessner; John G Coles; Victor Moreno; Anne Granger; Stephen B Gruber; Peter J Gruber
Journal:  PLoS One       Date:  2010-05-26       Impact factor: 3.240

8.  An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Authors:  Christine Ackerman; Adam E Locke; Eleanor Feingold; Benjamin Reshey; Karina Espana; Janita Thusberg; Sean Mooney; Lora J H Bean; Kenneth J Dooley; Clifford L Cua; Roger H Reeves; Stephanie L Sherman; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2012-10-05       Impact factor: 11.025

Review 9.  Molecular genetics of congenital atrial septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Felix Berger; Cemil Ozcelik
Journal:  Clin Res Cardiol       Date:  2009-12-11       Impact factor: 5.460

10.  A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

Authors:  Maximilian G Posch; Michael Gramlich; Margaret Sunde; Katharina R Schmitt; Stella H Y Lee; Silke Richter; Andrea Kersten; Andreas Perrot; Anna N Panek; Iman H Al Khatib; Georges Nemer; André Mégarbané; Rainer Dietz; Brigitte Stiller; Felix Berger; Richard P Harvey; Cemil Ozcelik
Journal:  J Med Genet       Date:  2009-09-16       Impact factor: 6.318
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