Associated Papers
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.
Astorino MF et al.
Genes, 2025
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
Barañano KW et al.
Journal of Child Neurology, 2022
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
Structural Maintenance of Chromosomes protein 1: Role in Genome Stability and Tumorigenesis.
Yi F et al.
International Journal of Biological Sciences, 2017
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
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
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Mannini L et al.
Human Mutation, 2010
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J et al.
Human Mutation, 2009
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