4.7 Article

A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cardiac & Cardiovascular Systems

Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

Paula Morlanes-Gracia et al.

Summary: This study describes a family with a novel missense mutation in the NKX2-5 gene, with several ancestors affected by various heart diseases.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2021)

Article Genetics & Heredity

An update on genetic variants of the NKX2-5

Jorge E. Kolomenski et al.

HUMAN MUTATION (2020)

Article Cardiac & Cardiovascular Systems

Increased Burden of Ion Channel Gene Variants Is Related to Distinct Phenotypes in Pediatric Patients With Left Ventricular Noncompaction

Keiichi Hirono et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)

Article Genetics & Heredity

Genetic architecture of left ventricular noncompaction in adults

Samantha Barratt Ross et al.

HUMAN GENOME VARIATION (2020)

Letter Cardiac & Cardiovascular Systems

Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death

Julian Palomino Doza et al.

REVISTA ESPANOLA DE CARDIOLOGIA (2018)

Review Cardiac & Cardiovascular Systems

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

Sabrina Gade Ellesoe et al.

CONGENITAL HEART DISEASE (2016)

Review Genetics & Heredity

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

Ill-Min Chung et al.

Article Cardiac & Cardiovascular Systems

Mouse Model of Human Congenital Heart Disease Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation

Rajib Chowdhury et al.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2015)

Article Cardiac & Cardiovascular Systems

Wenckebach Periodicity at Rest That Normalizes With Tachycardia in a Family With a NKX2.5 Mutation

Warren Guntheroth et al.

AMERICAN JOURNAL OF CARDIOLOGY (2012)

Article Cardiac & Cardiovascular Systems

Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects

Laura E. Briggs et al.

CIRCULATION RESEARCH (2008)