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-Reference-Cited by-同舟云学术

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

Published:2014-12-19 Issue:4 Volume:36 Page:802-808
ISSN:0172-0643
Container-title:Pediatric Cardiology
language:en
Short-container-title:Pediatr Cardiol

Author:

Alcántara-Ortigoza Miguel A.,De Rubens-Figueroa Jesús,Reyna-Fabian Miriam E.,Estandía-Ortega Bernardette,González-del Angel Ariadna,Molina-Álvarez Bertha,Velázquez-Aragón José A.,Villagómez-Martínez Sandra,Pereira-López Gabriela I.,Cruz-Martínez Víctor,Álvarez-Gómez Rosa M.,García-Díaz Luisa

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00246-014-1091-3.pdf

Reference22 articles.

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2. Beffagna G, Cecchetto A, Dal Bianco L et al (2013) R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease. J Cardiovasc Med 14:582–586. doi: 10.2459/JCM.0b013e328356a326

3. de Rubens Figueroa J, del Pozzo Magaña B, Pablos Hach JL, Calderón Jiménez C, Castrejón Urbina R (2003) Heart malformations in children with Down syndrome. Rev Esp Cardiol 56:894–899

4. Dentice M, Cordeddu V, Rosica A et al (2006) Missense Mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 91:1428–1433. doi: 10.1210/jc.2005-1350

5. Esposito G, Grutter G, Drago F et al (2009) Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. Am J Med Genet A 149A:1574–1577. doi: 10.1002/ajmg.a.32907

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2. The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis;The Egyptian Heart Journal;2021-08-21

3. Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico;American Journal of Medical Genetics Part A;2019-07-19

4. Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children;Molecular Genetics & Genomic Medicine;2019-03-04

5. Copy number variations in the GATA4 , NKX2-5 , TBX5 , BMP4 CRELD1 , and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease;Journal of Clinical Laboratory Analysis;2018-09-17