Cargando…

Detection of Novel Pathogenic Variants in Two Families with Recurrent Fetal Congenital Heart Defects

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect with strong genetic heterogeneity. To date, about 400 genes have been linked to CHD, including cell signaling molecules, transcription factors, and structural proteins that are important for heart development. Genetic analysi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cai, Rongqin, Tan, Ya, Wang, Mingming, Yu, Huijun, Wang, Jing, Ren, Zhuo, Dong, Zhe, He, Yiwen, Li, Zhi, Lin, Li, Gu, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2023
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10008912/ https://www.ncbi.nlm.nih.gov/pubmed/36923242 http://dx.doi.org/10.2147/PGPM.S394120

Ejemplares similares

Preeclampsia and Fetal Congenital Heart Defects
por: Ferreira, Bárbara D., et al.
Publicado: (2022)

Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect
por: Guo, Qian-nan, et al.
Publicado: (2017)

High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families
por: Hu, Huifang, et al.
Publicado: (2021)

Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD)
por: Radhakrishna, Uppala, et al.
Publicado: (2019)

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
por: Liu, Yichuan, et al.
Publicado: (2019)

A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
por: Tabib, Avisa, et al.
Publicado: (2022)

Association of GDF1 rs4808863 with fetal congenital heart defects: a case–control study
por: Zhang, Juan, et al.
Publicado: (2015)

Post-Transcriptional Modification by Alternative Splicing and Pathogenic Splicing Variants in Cardiovascular Development and Congenital Heart Defects
por: Mehta, Zubin, et al.
Publicado: (2023)

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses
por: Russell, Mark W., et al.
Publicado: (2019)

Congenital abnormality effect of methamphetamine on histological, cellular and chromosomal defects in fetal mice
por: Mirjalili, Tahereh, et al.
Publicado: (2013)

Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population
por: Zhao, Jian-Yuan, et al.
Publicado: (2012)

Congenital Giant Epignathus with Intracranial Extension in a Fetal
por: Wang, Ai-Chun, et al.
Publicado: (2017)

Human fetal heart specific coexpression network involves congenital heart disease/defect candidate genes
por: Wang, Bo, et al.
Publicado: (2017)

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects
por: Zheng, Simin, et al.
Publicado: (2022)

LOF variants identifying candidate genes of laterality defects patients with congenital heart disease
por: Liu, Sijie, et al.
Publicado: (2022)

Three‐dimensional reconstruction of defects in congenital diaphragmatic hernia: a fetal MRI study
por: Prayer, F., et al.
Publicado: (2019)

Utility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects
por: Salehi, Daniel, et al.
Publicado: (2021)

Longitudinal changes in fetal head biometry and fetoplacental circulation in fetuses with congenital heart defects
por: Ordás, Polán, et al.
Publicado: (2022)

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
por: Al-Hamed, Mohamed H., et al.
Publicado: (2020)

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
por: Chen, Weicheng, et al.
Publicado: (2019)

Association between Maternal Thyroxine and Risk of Fetal Congenital Heart Defects: A Hospital-Based Cohort Study
por: Dong, Jing, et al.
Publicado: (2022)

Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy
por: Zhen, Tianjiao, et al.
Publicado: (2023)

Neonates with critical congenital heart defects: Impact of fetal diagnosis on immediate and short-term outcomes
por: Colaco, Sylvia Michael, et al.
Publicado: (2017)

Utility of Fetal Echocardiography with Acute Maternal Hyperoxygenation Testing in Assessment of Complex Congenital Heart Defects
por: Patel, Sheetal R., et al.
Publicado: (2023)

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities
por: Zhang, Simin, et al.
Publicado: (2023)

Juvenile cystic adenomyomas: acquired adenomyosis variant or congenital Müllerian defects?
por: Martin, Dan C., et al.
Publicado: (2021)

Congenital Defects
Publicado: (1913)

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
por: An, Yu, et al.
Publicado: (2016)

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
por: Calame, Daniel G., et al.
Publicado: (2021)

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
por: Yang, Kai, et al.
Publicado: (2019)

A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
por: Tan, Ya, et al.
Publicado: (2020)

Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases
por: Li, Fei-Feng, et al.
Publicado: (2015)

Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot
por: Sheng, Wei, et al.
Publicado: (2014)

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
por: Marguet, Florent, et al.
Publicado: (2021)

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
por: Chong, Jessica X., et al.
Publicado: (2023)

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
por: Chong, Jessica X., et al.
Publicado: (2023)

The Application of an Anatomical Database for Fetal Congenital Heart Disease
por: Yang, Li, et al.
Publicado: (2015)

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing
por: Shen, Yong, et al.
Publicado: (2021)

Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy
por: Jung, Youn-Joon, et al.
Publicado: (2020)

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
por: Masciadri, Maura, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ennundugsbssbucf0iqlsrvd78