A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference22 articles.
1. The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3;Albert;PLoS Genet.,2013
2. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection;Athanasakis;Am. J. Med. Genet.,2014
3. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features;Battaglia;Eur. J. Paediatr. Neurol.,2013
4. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity;Brookes;Hum. Mol. Genet.,2015
5. Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF;Carbone;Genes Chromosomes Cancer,2008
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3. Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants;Genes;2021-09-10
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