Epilepsy phenotype in patients with Xp22.31 microduplication
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Clinical Neurology,Neurology
Reference22 articles.
1. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future;Shaffer;Am J Med Genet C Semin Med Genet,2007
2. Interstitial micro-duplication of Xp22.31: causative of intellectual disability or benign copy number variant?;Li;Eur J Med Genet,2010
3. Detection of chromosome abnormalities using current noninvasive prenatal testing: a multi-center comparative study;Du;Biosci Trends,2018
4. Private inherited microdeletion/microduplications: implications in clinical practice;Mencarelli;Eur J Med Genet,2008
5. Copy number variation plays an important role in clinical epilepsy;Olson;Ann Neurol,2014
Cited by 3 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. Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up;BMC Medical Genomics;2023-04-03
2. Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses;Genes;2020-08-22
3. Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank;Human Molecular Genetics;2020-08-07
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