Cargando…
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion or translocations), and complex combinations...
Autores principales: | Cao, Ye, Luk, Ho Ming, Zhang, Yanyan, Chau, Matthew Hoi Kin, Xue, Shuwen, Cheng, Shirley S. W., Li, Albert Martin, Chong, Josephine S. C., Leung, Tak Yeung, Dong, Zirui, Choy, Kwong Wai, Lo, Ivan Fai Man |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046776/ https://www.ncbi.nlm.nih.gov/pubmed/35495136 http://dx.doi.org/10.3389/fgene.2022.803088 |
Ejemplares similares
-
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) -
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics
por: Li, Keying, et al.
Publicado: (2023) -
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics
por: Dong, Zirui, et al.
Publicado: (2021) -
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
por: Wang, Huilin, et al.
Publicado: (2019) -
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis
por: Chau, Matthew Hoi Kin, et al.
Publicado: (2021)