Cargando…

Copy number variations associated with fetal congenital kidney malformations

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Chen, Xuemei, Lin, Yuan, Huang, Hailong, Xu, Liangpu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092440/ https://www.ncbi.nlm.nih.gov/pubmed/32211073 http://dx.doi.org/10.1186/s13039-020-00481-7

Ejemplares similares

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
por: Cai, Meiying, et al.
Publicado: (2018)

Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays
por: Cai, Meiying, et al.
Publicado: (2019)

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
por: Cai, Meiying, et al.
Publicado: (2020)

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
por: Cai, Meiying, et al.
Publicado: (2020)

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel
por: Fan, Xiangqun, et al.
Publicado: (2021)

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome
por: Cai, Meiying, et al.
Publicado: (2018)

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
por: Cai, Meiying, et al.
Publicado: (2021)

Evaluation of chromosomal abnormalities and copy number variations in late trimester pregnancy using cordocentesis
por: Cai, Meiying, et al.
Publicado: (2020)

Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
por: Su, Linjuan, et al.
Publicado: (2021)

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center
por: Cai, Meiying, et al.
Publicado: (2022)

Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes
por: Cai, Meiying, et al.
Publicado: (2021)

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation
por: Cai, Meiying, et al.
Publicado: (2022)

Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
por: Cai, Meiying, et al.
Publicado: (2023)

Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age
por: Wu, Xiaoqing, et al.
Publicado: (2019)

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
por: Wu, Xiaoqing, et al.
Publicado: (2020)

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities
por: Xie, Xiaorui, et al.
Publicado: (2021)

Chromosomal microarray analysis for pregnancies with abnormal maternal serum screening who undergo invasive prenatal testing
por: Wu, Xiaoqing, et al.
Publicado: (2021)

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
por: Wu, Xiaoqing, et al.
Publicado: (2019)

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
por: Xue, Huili, et al.
Publicado: (2021)

Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype
por: Su, Linjuan, et al.
Publicado: (2019)

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
por: Wu, Xiaoqing, et al.
Publicado: (2023)

SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis
por: Huang, Hailong, et al.
Publicado: (2021)

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios
por: Wu, Xiaoqing, et al.
Publicado: (2022)

Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China
por: Cai, Meiying, et al.
Publicado: (2023)

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities
por: Cai, Meiying, et al.
Publicado: (2021)

Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center
por: Wu, Xiaoqing, et al.
Publicado: (2021)

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays
por: Wang, Haiwei, et al.
Publicado: (2022)

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
por: Xie, Xiaorui, et al.
Publicado: (2023)

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study
por: Cai, Meiying, et al.
Publicado: (2022)

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience
por: Huang, Hailong, et al.
Publicado: (2021)

Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China
por: Zheng, Lin, et al.
Publicado: (2021)

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study
por: Cai, Meiying, et al.
Publicado: (2022)

Prenatal diagnosis of Pallister‐Killian syndrome and literature review
por: Wu, Xiaoqing, et al.
Publicado: (2021)

The copy number variation landscape of congenital anomalies of the kidney and urinary tract
por: Verbitsky, Miguel, et al.
Publicado: (2018)

Benign, Pathogenic and Copy Number Variations of Unknown Clinical Significance in Patients with Congenital Malformations and Developmental Delay
por: Mihaylova, M, et al.
Publicado: (2017)

Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study
por: Liang, Bin, et al.
Publicado: (2023)

Comparative clinical genetic testing in spontaneous miscarriage: Insights from a study in Southern Chinese women
por: Cai, Meiying, et al.
Publicado: (2021)

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies
por: Cai, Meiying, et al.
Publicado: (2021)

The importance of copy number variation in congenital heart disease
por: Costain, Gregory, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_95jkmjo4hao214mo0g16v9obgm