Literature DB >> 15235040

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.

A Okubo1, O Miyoshi, K Baba, M Takagi, K Tsukamoto, A Kinoshita, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto.   

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Year:  2004        PMID: 15235040      PMCID: PMC1735839          DOI: 10.1136/jmg.2004.018895

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  43 in total

1.  Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Authors:  Margaret J Wat; Tyler F Beck; Andrés Hernández-García; Zhiyin Yu; Danielle Veenma; Monica Garcia; Ashley M Holder; Jeanette J Wat; Yuqing Chen; Carrie A Mohila; Kevin P Lally; Mary Dickinson; Dick Tibboel; Annelies de Klein; Brendan Lee; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2012-06-20       Impact factor: 6.150

2.  Somatic mutations in cardiac malformations.

Authors:  S M Reamon-Buettner; J Borlak
Journal:  J Med Genet       Date:  2006-08       Impact factor: 6.318

Review 3.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

Review 4.  Transcription factor pathways and congenital heart disease.

Authors:  David J McCulley; Brian L Black
Journal:  Curr Top Dev Biol       Date:  2012       Impact factor: 4.897

Review 5.  Molecular mechanisms of Barrett's esophagus.

Authors:  Hao Chen; Yu Fang; Whitney Tevebaugh; Roy C Orlando; Nicholas J Shaheen; Xiaoxin Chen
Journal:  Dig Dis Sci       Date:  2011-10-08       Impact factor: 3.199

6.  Development of heart valves requires Gata4 expression in endothelial-derived cells.

Authors:  José Rivera-Feliciano; Kyu-Ho Lee; Sek Won Kong; Satish Rajagopal; Qing Ma; Zhangli Springer; Seigo Izumo; Clifford J Tabin; William T Pu
Journal:  Development       Date:  2006-08-16       Impact factor: 6.868

7.  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

8.  8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Authors:  John Ck Barber; Dave Bunyan; Merryl Curtis; Denise Robinson; Susanne Morlot; Anette Dermitzel; Thomas Liehr; Claudia Alves; Joana Trindade; Ana I Paramos; Clare Cooper; Kevin Ocraft; Emma-Jane Taylor; Viv K Maloney
Journal:  Mol Cytogenet       Date:  2010-02-18       Impact factor: 2.009

9.  GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.

Authors:  Dong Wei; Han Bao; Ning Zhou; Gui-Fen Zheng; Xing-Yuan Liu; Yi-Qing Yang
Journal:  Pediatr Cardiol       Date:  2012-09-09       Impact factor: 1.655

Review 10.  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

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