Cargando…

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay

Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from popula...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yi, Lv, Yuqiang, Zarrei, Mehdi, Dong, Rui, Yang, Xiaomeng, Higginbotham, Edward J., Li, Yue, Zhao, Dongmei, Song, Fengling, Yang, Yali, Zhang, Haiyan, Wang, Ying, Scherer, Stephen W., Gai, Zhongtao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8755789/ https://www.ncbi.nlm.nih.gov/pubmed/35022430 http://dx.doi.org/10.1038/s41525-021-00271-z

Ejemplares similares

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies
por: Lee, Sun Ho, et al.
Publicado: (2017)

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability
por: Kim, Hyo Jeong, et al.
Publicado: (2018)

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
por: Woodbury-Smith, Marc, et al.
Publicado: (2017)

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
por: Kaihui, Zhang, et al.
Publicado: (2018)

Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
por: Zhang, Kaihui, et al.
Publicado: (2018)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Xiang, Jingjing, et al.
Publicado: (2021)

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities
por: Zhang, Yujia, et al.
Publicado: (2015)

FRI410 ESR1 Variants Reduce Estrogen Receptor Alpha Expression In Women With Unexplained Infertility
por: Roman, Robert A, et al.
Publicado: (2023)

Genetic analysis of intellectual disability and autism
por: Chiurazzi, Pietro, et al.
Publicado: (2020)

Evaluation of a Viral Microarray Based on Simultaneous Extraction and Amplification of Viral Nucleotide Acid for Detecting Human Herpesviruses and Enteroviruses
por: Liu, Yi, et al.
Publicado: (2015)

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching
por: Arafat, Ahmed, et al.
Publicado: (2017)

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort
por: Chong, Wilson Wai Sing, et al.
Publicado: (2014)

IQSEC2-Associated Intellectual Disability and Autism
por: Levy, Nina S., et al.
Publicado: (2019)

Nuclear Receptor Corepressors in Intellectual Disability and Autism
por: Kong, Yan, et al.
Publicado: (2020)

Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
por: AYAZ, Akif, et al.
Publicado: (2022)

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
por: Choucair, Nancy, et al.
Publicado: (2015)

The relationship between polymorphisms in the promoter region of Tim-3 and unexplained recurrent spontaneous abortion in Han Chinese women
por: Shen, Yang, et al.
Publicado: (2013)

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
por: Ceylan, Ahmet Cevdet, et al.
Publicado: (2018)

Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
por: Shin, Saeam, et al.
Publicado: (2015)

Whole‐exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability
por: Zhang, Wenqiu, et al.
Publicado: (2022)

Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia
por: Guevara-Campos, José, et al.
Publicado: (2015)

Thriving in Youth with Autism Spectrum Disorder and Intellectual Disability
por: Weiss, Jonathan A., et al.
Publicado: (2015)

Psychopathology in Adults with Autism Spectrum Disorder and Intellectual Disability
por: Mccarthy, J.
Publicado: (2022)

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
por: Fan, Yanjie, et al.
Publicado: (2018)

Immunohistochemical Analysis of Brainstem Lesions in the Autopsy Cases with Severe Motor and Intellectual Disabilities Showing Sudden Unexplained Death
por: Hayashi, Masaharu, et al.
Publicado: (2016)

Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities—A Narrative Review
por: Ko, Mary Hsin-Ju, et al.
Publicado: (2023)

Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth
por: Leonard, Helen, et al.
Publicado: (2011)

Socioeconomic Disparities and Prevalence of Autism Spectrum Disorders and Intellectual Disability
por: Delobel-Ayoub, Malika, et al.
Publicado: (2015)

Wnt signaling networks in autism spectrum disorder and intellectual disability
por: Kwan, Vickie, et al.
Publicado: (2016)

The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability
por: Xie, Sherlly, et al.
Publicado: (2020)

A Pilot Trial of a Manualized Psychoeducation Module for Parents of Children with Autism with Intellectual Disability and Intellectual Disability Alone
por: Kumari, Nupur, et al.
Publicado: (2020)

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
por: Wolfe, Kate, et al.
Publicado: (2017)

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
por: Lee, Jin Sook, et al.
Publicado: (2018)

Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability
por: Jeoung, Bogja
Publicado: (2018)

Replication of the Association of a MET Variant with Autism in a Chinese Han Population
por: Zhou, Xue, et al.
Publicado: (2011)

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
por: Dong, Rui, et al.
Publicado: (2022)

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases
por: Gao, Min, et al.
Publicado: (2023)

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
por: Mundhofir, Farmaditya E. P., et al.
Publicado: (2013)

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations
por: Wang, Yanxin, et al.
Publicado: (2022)

Comorbidity Burden in Adults With Autism Spectrum Disorders and Intellectual Disabilities—A Report From the EFAAR (Frailty Assessment in Ageing Adults With Autism Spectrum and Intellectual Disabilities) Study
por: Miot, Stéphanie, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_k174q85rbhuahuehkr2n2j2f60