1q21.1 Duplication syndrome and epilepsy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics(clinical),Clinical Neurology
Reference7 articles.
1. The birth of human-specific neural gene by incomplete duplication and gene fusion;Dougherty;Genome Biol,2017
2. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
3. The Laforin–Malin Complex, Involved in Lafora Disease, Promotes the Incorporation of K63-linked Ubiquitin Chains into AMP-activated Protein Kinase β Subunits
4. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
5. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Impact of copy number variants in epilepsy plus neurodevelopment disorders;Seizure: European Journal of Epilepsy;2024-04
2. Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review;American Journal of Medical Genetics Part A;2023-10-26
3. Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study;BMC Medical Genomics;2023-08-23
4. Identification of 1q21.1 microduplication in a family: A case report;World Journal of Clinical Cases;2023-02-06
5. Assessment of burden and segregation profiles of CNVs in patients with epilepsy;Annals of Clinical and Translational Neurology;2022-06-08
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