Literature DB >> 15561182

The genetic contribution to congenital heart disease.

Elizabeth Goldmuntz1.   

Abstract

This article reviews the more recent findings on the genetic basis of congenital cardiovascular disease and highlights the clinical applications of these discoveries.

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Mesh：

Year:  2004        PMID： 15561182     DOI： 10.1016/j.pcl.2004.08.006

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN： 0031-3955            Impact factor:   3.278


  4 in total

1.  The registry and follow-up of complex pediatric therapies program of Western Canada: a mechanism for service, audit, and research after life-saving therapies for young children.

Authors:  Charlene M T Robertson; Reg S Sauve; Ari R Joffe; Gwen Y Alton; Diane M Moddemann; Patricia M Blakley; Anne R Synnes; Irina A Dinu; Joyce R Harder; Reeni Soni; Jaya P Bodani; Ashok P Kakadekar; John D Dyck; Derek G Human; David B Ross; Ivan M Rebeyka
Journal:  Cardiol Res Pract       Date:  2011-05-08       Impact factor: 1.866

2.  TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Authors:  Bilal Azab; Dunia Aburizeg; Weizhen Ji; Lauren Jeffries; Nooredeen Jamal Isbeih; Amal Saleh Al-Akily; Hashim Mohammad; Yousef Abu Osba; Mohammad A Shahin; Zain Dardas; Ma'mon M Hatmal; Iyad Al-Ammouri; Saquib Lakhani
Journal:  Mol Med Rep       Date:  2022-05-06       Impact factor: 3.423

3.  Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Authors:  Johann Böhm; Wolfram Heinritz; Alexander Craig; Mihailo Vujic; Britt-Marie Ekman-Joelsson; Jürgen Kohlhase; Ursula Froster
Journal:  BMC Med Genet       Date:  2008-10-01       Impact factor: 2.103

4.  A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Authors:  Martina Dreßen; Harald Lahm; Armin Lahm; Klaudia Wolf; Stefanie Doppler; Marcus-André Deutsch; Julie Cleuziou; Jelena Pabst von Ohain; Patric Schön; Peter Ewert; Ivan Malcic; Rüdiger Lange; Markus Krane
Journal:  Mol Genet Genomic Med       Date:  2016-07-14       Impact factor: 2.183
  4 in total

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