ArticleAmerican journal of human genetics2006
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 86 papers.
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Who cites it
86 citing papers in PubMed.
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.Brain : a journal of neurology · 2023Article
- Article
- NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat.Journal of neurodevelopmental disorders · 2023Article
- Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.Frontiers in immunology · 2022Article
- Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.Molecular cytogenetics · 2021Article
- Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion.Cerebral cortex (New York, N.Y. : 1991) · 2020Article
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain : a journal of neurology · 2020Article
- Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts.Scientific reports · 2019Article
- Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.Korean journal of pediatrics · 2017Article
- Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.Italian journal of pediatrics · 2017Article
- Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.Cerebral cortex (New York, N.Y. : 1991) · 2017Article
- Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Neural plasticity · 2017Review
- MLPA analysis in a cohort of patients with autism.Molecular cytogenetics · 2017Article
- Copy number variations in Saudi family with intellectual disability and epilepsy.BMC genomics · 2016Article
- Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.Behavioral neuroscience · 2015Article
- Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.Molecular cytogenetics · 2015Article
- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Molecular cytogenetics · 2015Article
- Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.BMC genomics · 2015Article
- A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.Molecular genetics & genomic medicine · 2014Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedArmstrong, Linlea [added]
Authors and funding
38 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically detectable chromosomal abnormalities are the most frequently recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy-number variants. We studied 100 children with idiopathic mental retardation and normal results of standard chromosomal analysis, by use of whole-genome sampling analysis with Affymetrix GeneChip Human Mapping 100K arrays. We found de novo deletions as small as 178 kb in eight cases, de novo duplications as small as 1.1 Mb in two cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation.
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