Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
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چکیده
منابع مشابه
No association between single nucleotide polymorphisms in pre-mirnas and the risk of gastric cancer in Chinese population
Objective(s): Accumulating evidence has demonstrated that miRNAs contribute to various genetic and epigenetic modifications in the pathogenesis of gastric cancer (GC). Recent studies focused on the four single nucleotide polymorphisms (SNPs) of pre-miRNAs including rs11614913, rs3746444, rs2910164, and rs2292832. It was suggested that these four SNPs were significantly associated with the risk ...
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Calcineurin, which functions in calcium signaling, is expressed in skeletal and cardiac muscle and has been linked to sensitivity to muscle strength training. It is also proposed to contribute to individual aerobic endurance. To investigate the relationship between calcineurin-encoding genes and aerobic endurance traits, 126 young-adult Han Chinese males were enrolled in an aerobic exercise tra...
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The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects
Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
متن کاملGuidelines for 22q11 deletion screening of patients with conotruncal defects.
Goldmuntz et al. (1) have reported the frequency of 22q11 deletions in a prospectively ascertained sample of 251 patients with conotruncal defects. Deletions were found in 17.9% of the patients, including 50% with interrupted aortic arch (IAA), 34.3% with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Although this study was designed to determine the frequency of deletions i...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2011
ISSN: 1471-2350
DOI: 10.1186/1471-2350-12-169