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Abbreviation : CTDs
Long Form : Conotruncal heart defects
No. Year Title Co-occurring Abbreviation
2020 MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation. CHD, cNCCs, CS, MESP2, OFT, RT-qPCR
2020 Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients. ANF, CDS, SRF
2019 Association between functional polymorphisms in the promoter of the miR-143/145 cluster and risk of conotruncal heart defects. SNPs
2019 Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects. ---
2019 Gene-by-gene interactions associated with the risk of conotruncal heart defects. NBDPS
2019 The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect. GRS, SNPs, T2D
2018 Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population. SNPs
2018 Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing. ---
2017 CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese Children. ---
10  2017 Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients. ---
11  2017 In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects. SHF
12  2017 Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects. ---
13  2016 Genetic variance of transforming growth factor beta2 gene in conotruncal heart defects. PCR-RFLP, SNPs
14  2014 Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways. GCLC, GE, SNPs, TYMS
15  2014 Maternal obesity and tobacco use modify the impact of genetic variants on the occurrence of conotruncal heart defects. GCLC, GST, GSTA3, SNPs
16  2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. ---
17  2013 Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects. DGS, MLPA, TBX1
18  2011 Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. SNP
19  2011 Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects. LSLs
20  2011 Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. CHDs, DORV, TOF
21  2010 Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004. CHDs, d-TGA, TA, TOF
22  2006 22q11.2 deletion mosaicism in patients with conotruncal heart defects. ccTGA, DORV, FISH, PAA/VSD, STR, TOF