Cargando…

Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

BACKGROUND: In nonsyndromic conotruncal cardiac defects, the use of next‐generation sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence‐based consensus. METHODS AND RES...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chui, Martin M. C., Mak, Christopher C. Y., Yu, Mullin H. C., Wong, Sandra Y. Y., Lun, Kin‐Shing, Yung, Tak‐Cheung, Kwong, Anna K. Y., Chow, Pak‐Cheong, Chung, Brian H. Y.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111484/ https://www.ncbi.nlm.nih.gov/pubmed/36789878 http://dx.doi.org/10.1161/JAHA.122.028226

Ejemplares similares

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
por: Mak, Christopher C Y, et al.
Publicado: (2016)

Gene‐by‐gene interactions associated with the risk of conotruncal heart defects
por: Lyu, Chen, et al.
Publicado: (2019)

Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
por: Bittel, Douglas C, et al.
Publicado: (2011)

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
por: Musfee, Fadi I., et al.
Publicado: (2021)

Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects
por: Lupo, Philip J., et al.
Publicado: (2010)

Neuroendocrine tumors and conotruncal cardiac defects
por: Martínez-Quintana, Efrén, et al.
Publicado: (2018)

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
por: Shaw, Gary M, et al.
Publicado: (2009)

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
por: Mengmeng, Xu, et al.
Publicado: (2020)

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects
por: Sewda, Anshuman, et al.
Publicado: (2019)

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
por: Sewda, Anshuman, et al.
Publicado: (2020)

Investigation of Copy Number Variation in Children with Conotruncal Heart Defects
por: Campos, Carla Marques Rondon, et al.
Publicado: (2015)

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
por: de Souza, Karen Regina, et al.
Publicado: (2015)

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
por: Delea, Marisol, et al.
Publicado: (2018)

Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects
por: Surmiak, Piotr, et al.
Publicado: (2017)

Placental DNA Methylation Abnormalities in Prenatal Conotruncal Heart Defects
por: Liu, Jingjing, et al.
Publicado: (2022)

Gene–Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study
por: Webber, Daniel M., et al.
Publicado: (2023)

Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects
por: Kay, W. Aaron
Publicado: (2016)

Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects
por: Agopian, A. J., et al.
Publicado: (2014)

Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects
por: Lahiri, Subhrajit, et al.
Publicado: (2020)

Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects
por: Harvey, Drayton C., et al.
Publicado: (2022)

Outflow Tract Formation—Embryonic Origins of Conotruncal Congenital Heart Disease
por: Stefanovic, Sonia, et al.
Publicado: (2021)

A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency
por: Kwong, Anna K.‐Y., et al.
Publicado: (2019)

Effects of Performing Applied Muscle Tension during Recovery after Phlebotomy in Young, First-Time Donors: A Pilot Study
por: Cheung, Cara H. Y., et al.
Publicado: (2021)

Maternal Obesity and Tobacco Use Modify the Impact of Genetic Variants on the Occurrence of Conotruncal Heart Defects
por: Tang, Xinyu, et al.
Publicado: (2014)

Microdeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization
por: Gong, Xiaohui, et al.
Publicado: (2013)

New Insight from Using Spatiotemporal Image Correlation in Prenatal Screening of Fetal Conotruncal Defects
por: Xie, Zuo-ping, et al.
Publicado: (2013)

DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects
por: Gao, Wenming, et al.
Publicado: (2015)

Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population
por: Wang, Xike, et al.
Publicado: (2018)

Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing
por: Xie, Huilin, et al.
Publicado: (2018)

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects
por: Zhou, Shuang, et al.
Publicado: (2020)

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
por: Putotto, Carolina, et al.
Publicado: (2022)

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
por: Zhao, Yingjie, et al.
Publicado: (2023)

Identification of ANXA2 as a Potential Susceptibility Gene for Diabetic Retinopathy in a Genome-Wide Association Analysis in Chinese Patients With Type 2 Diabetes Mellitus
por: Cheung, Chloe Y Y, et al.
Publicado: (2021)

Modified VMAT Plans for Locally Advanced Centrally Located Non-Small Cell Lung Cancer (NSCLC)
por: Cheung, Eva Y. W., et al.
Publicado: (2021)

Diagnosis of the Double Aortic Arch and Its Differentiation from the Conotruncal Malformations
por: Lee, Meng-Luen
Publicado: (2007)

Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease
por: Dyer, Laura A., et al.
Publicado: (2021)

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States
por: Oluwafemi, Omobola O., et al.
Publicado: (2021)

Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation
por: Fukuda, K, et al.
Publicado: (2004)

Novel Partitivirus Enhances Virulence of and Causes Aberrant Gene Expression in Talaromyces marneffei
por: Lau, Susanna K. P., et al.
Publicado: (2018)

Mortality burden of the 1918–1920 influenza pandemic in Hong Kong
por: Ho, Pak‐Leung, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_nd4fp0b7gmtabc1hq576dbccnj