Associated Papers
Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele.
Sun Y et al.
Frontiers in Genetics, 2022
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Pileggi S et al.
Biomolecules, 2021
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Chinen Y et al.
Human Genome Variation, 2019
31098032 (PubMed )
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Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Fieremans N et al.
Human Mutation, 2016
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N et al.
American Journal of Medical Genetics. Part A, 2015
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Parenti I et al.
Epigenetics, 2014
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C et al.
American Journal of Medical Genetics. Part A, 2013
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
Mannini L et al.
American Journal of Medical Genetics. Part A, 2012
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
Limongelli G et al.
American Journal of Medical Genetics. Part A, 2010
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