CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease
نویسندگان
چکیده
منابع مشابه
Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease
Congenital heart disease (CHD) is the most common human congenital defect, and a leading cause of death in infants. With an incidence that varies between 0.8 to 2% in neonates, congenital heart disease contributes to a much larger fraction of stillbirths.(Goldmuntz 2001; Loffredo 2000) Additionally, undiagnosed mild malformations of the heart often appear later in adulthood or remain undiagnose...
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BACKGROUND Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects in human beings. In this study, we evaluated the presence and frequency of mutations in the NKX2.5 gene on 159 unrelated patients with a diverse range of non-syndromic congenita...
متن کاملGenetic Syndromes associated with Congenital Heart Disease
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the l...
متن کاملCNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients
Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...
متن کاملWhy increased nuchal translucency is associated with congenital heart disease: a systematic review on genetic mechanisms.
This overview provides insight into the underlying genetic mechanism of the high incidence of cardiac defects in fetuses with increased nuchal translucency (NT). Nuchal edema, the morphological equivalent of increased NT, is likely to result from abnormal lymphatic development and is strongly related to cardiac defects. The underlying genetic pathways are, however, unknown. This study aims to p...
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ژورنال
عنوان ژورنال: Database
سال: 2020
ISSN: 1758-0463
DOI: 10.1093/database/baaa048