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De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00409-9
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- Article
TM7SF1 (GPR137B): a novel lysosome integral membrane protein.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 9, p. 8883, doi. 10.1007/s11033-012-1755-0
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- Article
Tet inactivation disrupts YY1 binding and long-range chromatin interactions during embryonic heart development.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12325-z
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- Publication type:
- Article
Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.
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- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0549-y
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- Publication type:
- Article
Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 576, doi. 10.1111/cge.13710
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- Publication type:
- Article
Coupling of 6-phosphogluconate dehydrogenase with NADPH oxidase in neutrophils: Nox2 activity regulation by NADPH availability.
- Published in:
- FASEB Journal, 2011, v. 25, n. 7, p. 2333, doi. 10.1096/fj.10-173807
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- Publication type:
- Article
Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.
- Published in:
- Pediatric Cardiology, 2018, v. 39, n. 3, p. 585, doi. 10.1007/s00246-017-1794-3
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- Article
In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects.
- Published in:
- Pediatric Cardiology, 2018, v. 39, n. 1, p. 176, doi. 10.1007/s00246-017-1744-0
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- Publication type:
- Article
Improvement in Tol2 transposon for efficient large-cargo capacity transgene applications in cultured cells and zebrafish (Danio rerio).
- Published in:
- Zoological Research, 2024, v. 45, n. 3, p. 567, doi. 10.24272/j.issn.2095-8137.2024.026
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- Publication type:
- Article
Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1771
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- Article
Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.
- Published in:
- Molecular Genetics & Genomics, 2018, v. 293, n. 1, p. 217, doi. 10.1007/s00438-017-1373-6
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- Publication type:
- Article
Investigation of Film Cooling Effectiveness of Dual-fanned Hole with Various Exit Widths.
- Published in:
- International Journal of Turbo & Jet-Engines, 2020, v. 37, n. 4, p. 353, doi. 10.1515/tjj-2017-0030
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- Publication type:
- Article
Involvement of miR-21 in resistance to daunorubicin by regulating PTEN expression in the leukaemia K562 cell line
- Published in:
- FEBS Letters, 2011, v. 585, n. 2, p. 402, doi. 10.1016/j.febslet.2010.12.027
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- Publication type:
- Article
A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
- Published in:
- 2018
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- Publication type:
- journal article
LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 12, p. 1, doi. 10.1371/journal.pgen.1010530
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- Publication type:
- Article
Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy.
- Published in:
- Journal of Gene Medicine, 2020, v. 22, n. 3, p. 1, doi. 10.1002/jgm.3146
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- Article
A Potential Relationship among Beta-Defensins Haplotype, SOX7 Duplication and Cardiac Defects.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072515
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- Publication type:
- Article
MicroRNA-21 regulates the sensitivity of diffuse large B-cell lymphoma cells to the CHOP chemotherapy regimen.
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- International Journal of Hematology, 2013, v. 97, n. 2, p. 223, doi. 10.1007/s12185-012-1256-x
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- Publication type:
- Article
Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.
- Published in:
- 2021
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- Publication type:
- journal article
SOX7 suppresses endothelial-to-mesenchymal transitions by enhancing VE-cadherin expression during outflow tract development.
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- Clinical Science, 2021, v. 135, n. 6, p. 829, doi. 10.1042/CS20201496
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- Publication type:
- Article
Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams–Oliver Syndrome.
- Published in:
- DNA & Cell Biology, 2020, v. 39, n. 5, p. 783, doi. 10.1089/dna.2019.5200
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- Publication type:
- Article
Genetic Analyses Identified a <italic>SALL4</italic> Gene Mutation Associated with Holt–Oram Syndrome.
- Published in:
- DNA & Cell Biology, 2018, v. 37, n. 4, p. 398, doi. 10.1089/dna.2017.4094
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- Publication type:
- Article
CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese Children.
- Published in:
- DNA & Cell Biology, 2017, v. 36, n. 7, p. 589, doi. 10.1089/dna.2017.3701
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- Publication type:
- Article
Duplication and Deletion of CFC1 Associated with Heterotaxy Syndrome.
- Published in:
- DNA & Cell Biology, 2015, v. 34, n. 2, p. 101, doi. 10.1089/dna.2014.2616
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- Publication type:
- Article
Exome Sequencing Identifies a Novel MYH7 p.G407C Mutation Responsible for Familial Hypertrophic Cardiomyopathy.
- Published in:
- DNA & Cell Biology, 2014, v. 33, n. 10, p. 699, doi. 10.1089/dna.2014.2483
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- Publication type:
- Article
Smilagenin Protects Dopaminergic Neurons in Chronic MPTP/Probenecid—Lesioned Parkinson's Disease Models.
- Published in:
- Frontiers in Cellular Neuroscience, 2019, p. N.PAG, doi. 10.3389/fncel.2019.00018
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- Publication type:
- Article
Inhibition of Cardiomyogenesis in Embryocarcinoma Cells Induced by Long- Term High Level of Glucose.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2016, v. 38, n. 5, p. 2041, doi. 10.1159/000445563
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- Publication type:
- Article
Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 1, p. 270, doi. 10.1159/000369694
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- Publication type:
- Article
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-78
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- Article
Hypoxia inducible factor-1α-mediated activation of survivin in cervical cancer cells.
- Published in:
- 2013
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- Publication type:
- Journal Article
Hypoxia inducible factor-1α-mediated activation of survivin in cervical cancer cells.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 2, p. 555, doi. 10.1111/j.1447-0756.2012.01995.x
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- Article
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
- Published in:
- Scientific Reports, 2017, p. 44165, doi. 10.1038/srep44165
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- Article
Identification of candidate genes for congenital heart defects on proximal chromosome 8p.
- Published in:
- Scientific Reports, 2016, p. 36133, doi. 10.1038/srep36133
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- Publication type:
- Article
Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
- Published in:
- Molecular Medicine Reports, 2015, v. 12, n. 3, p. 3662, doi. 10.3892/mmr.2015.3818
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- Publication type:
- Article
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
- Published in:
- Molecular Medicine Reports, 2014, v. 10, n. 2, p. 743, doi. 10.3892/mmr.2014.2247
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- Publication type:
- Article
Anatomic study of lower cervical spinous process for laminar screw fixation.
- Published in:
- China Journal of Orthopaedics & Traumatology / Zhongguo Gu Shang, 2012, v. 25, n. 7, p. 594, doi. 10.3969/j.issn.1003-0034.2012.07.016
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- Publication type:
- Article