Literature DB >> 19533775

Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.

Giorgia Esposito, Giorgia Grutter, Fabrizio Drago, Mauro W Costa, Antonella De Santis, Giovanna Bosco, Bruno Marino, Emanuele Bellacchio, Francesca Lepri, Richard P Harvey, Anna Sarkozy, Bruno Dallapiccola.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19533775     DOI： 10.1002/ajmg.a.32907

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


× No keyword cloud information.
  10 in total

1.  LAMP2 microdeletions in patients with Danon disease.

Authors:  Zhao Yang; Birgit H Funke; Linda H Cripe; G Wesley Vick; Debora Mancini-Dinardo; Liana S Peña; Ronald J Kanter; Brenda Wong; Brandy H Westerfield; Jaquelin J Varela; Yuxin Fan; Jeffrey A Towbin; Matteo Vatta
Journal:  Circ Cardiovasc Genet       Date:  2010-02-20

2.  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

3.  Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Authors:  Miguel A Alcántara-Ortigoza; Jesús De Rubens-Figueroa; Miriam E Reyna-Fabian; Bernardette Estandía-Ortega; Ariadna González-del Angel; Bertha Molina-Álvarez; José A Velázquez-Aragón; Sandra Villagómez-Martínez; Gabriela I Pereira-López; Víctor Martínez-Cruz; Víctor Cruz-Martínez; Rosa M Álvarez-Gómez; Luisa Díaz-García; Luisa García-Díaz
Journal:  Pediatr Cardiol       Date:  2014-12-19       Impact factor: 1.655

4.  Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Authors:  Ting Peng; Li Wang; Shu-Feng Zhou; Xiaotian Li
Journal:  Genetica       Date:  2010-11-26       Impact factor: 1.082

5.  A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.

Authors:  Ping Ouyang; Elizabeth Saarel; Ying Bai; Chunyan Luo; Qiulun Lv; Yan Xu; Fan Wang; Chun Fan; Adel Younoszai; Qiuyun Chen; Xin Tu; Qing K Wang
Journal:  Clin Chim Acta       Date:  2010-10-04       Impact factor: 3.786

6.  NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Authors:  Ossama K Abou Hassan; Akl C Fahed; Manal Batrawi; Mariam Arabi; Marwan M Refaat; Steven R DePalma; J G Seidman; Christine E Seidman; Fadi F Bitar; Georges M Nemer
Journal:  Sci Rep       Date:  2015-03-06       Impact factor: 4.379

7.  Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.

Authors:  Bing Han; Yongxiang Wang; Jing Zhao; Qingsu Lan; Jin Zhang; Xiaoxue Meng; Jianjian Jin; Ming Bai; Zheng Zhang
Journal:  Medicine (Baltimore)       Date:  2022-08-12       Impact factor: 1.817

Review 8.  Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.

Authors:  Sabrina Gade Ellesøe; Morten Munk Johansen; Jesper Vandborg Bjerre; Vibeke Elisabeth Hjortdal; Søren Brunak; Lars Allan Larsen
Journal:  Congenit Heart Dis       Date:  2015-12-18       Impact factor: 2.007

9.  NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

Authors:  Ihssane El Bouchikhi; Laila Bouguenouch; Fatima Zohra Moufid; Mohammed Iraqui Houssaini; Khadija Belhassan; Imane Samri; Ayoub Tahri Joutei; Karim Ouldim; Samir Atmani
Journal:  Anatol J Cardiol       Date:  2016-10-12       Impact factor: 1.596

10.  NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

Authors:  Ewelina Szczepanek-Parulska; Bartłomiej Budny; Martyna Borowczyk; Igor Zhukov; Kosma Szutkowski; Katarzyna Zawadzka; Raiha Tahir; Andrzej Minczykowski; Marek Niedziela; Marek Ruchała
Journal:  Int J Mol Sci       Date:  2022-03-21       Impact factor: 5.923
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.