Cargando…

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

INTRODUCTION: Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects. In this study, we have recruited seven families from China with neurodevelopmental abnormalitie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mao, Bin, Lin, Na, Guo, Danhua, He, Deqin, Xue, Huili, Chen, Lingji, He, Qianqian, Zhang, Min, Chen, Meihuan, Huang, Hailong, Xu, Liangpu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213446/ https://www.ncbi.nlm.nih.gov/pubmed/37250406 http://dx.doi.org/10.3389/fnins.2023.1165601

Ejemplares similares

Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: A prospective clinical study
por: Huang, Hailong, et al.
Publicado: (2021)

Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China
por: Huang, Hailong, et al.
Publicado: (2019)

Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism
por: Zhang, Min, et al.
Publicado: (2022)

Genetic research and clinical analysis of β‐globin gene cluster deletions in the Chinese population of Fujian province: A 14‐year single‐center experience
por: Chen, Meihuan, et al.
Publicado: (2021)

First report of the spectrum of δ‐globin gene mutations among women of reproductive age in Fujian area—Discrimination of δ‐thalassemia, α‐thalassemia, and Iron Deficiency Anemia
por: Chen, Meihuan, et al.
Publicado: (2020)

Optimization of regional median equations of prenatal screening markers for trisomy 21 in a Chinese population
por: Xu, Liangpu, et al.
Publicado: (2018)

Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China
por: Wang, Yan, et al.
Publicado: (2020)

Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease
por: Xue, Huili, et al.
Publicado: (2021)

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations
por: Zhang, Min, et al.
Publicado: (2020)

Analysis of genotype–phenotype correlation in patients with α‐thalassemia from Fujian province, Southeastern China
por: Pan, Yali, et al.
Publicado: (2022)

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
por: Xue, Huili, et al.
Publicado: (2020)

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center
por: Guo, Danhua, et al.
Publicado: (2021)

The clinical value of hsa-miR-190b-5p in peripheral blood of pediatric β-thalassemia and its regulation on BCL11A expression
por: Chen, Meihuan, et al.
Publicado: (2023)

Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result
por: He, Shuqiong, et al.
Publicado: (2023)

Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele
por: Zhang, Min, et al.
Publicado: (2022)

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities
por: Guo, Nan, et al.
Publicado: (2022)

Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies
por: Xue, Huili, et al.
Publicado: (2022)

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

Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
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)

Prenatal genetic analysis of fetal aberrant right subclavian artery with or without additional ultrasound anomalies in a third level referral center
por: Xue, Huili, et al.
Publicado: (2023)

Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience
por: Liang, Bin, et al.
Publicado: (2022)

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)

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study
por: Huang, Hailong, et al.
Publicado: (2021)

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

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
por: Cai, Meiying, et al.
Publicado: (2023)

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)

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

Abnormal regulation of microRNAs and related genes in pediatric β‐thalassemia
por: Wang, Haiwei, et al.
Publicado: (2021)

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

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)

Molecular genetic analysis of 1,980 cases of male infertility
por: Fu, Meimei, et al.
Publicado: (2023)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
por: Xiao, Yang, et al.
Publicado: (2021)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
por: Cai, Meiying, et al.
Publicado: (2022)

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

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel
por: Fan, Xiangqun, 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)

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

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

Cannot write session to /tmp/vufind_sessions/sess_1eettphjdn32kndei710l0qujp