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
Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
Chen J et al.
Genetics, 2023
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Chinen Y et al.
Human Genome Variation, 2019
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 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
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH et al.
European Journal of Medical Genetics, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.
The Journal of Clinical Investigation, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E et al.
Human Molecular Genetics, 2009
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA et al.
American Journal of Human Genetics, 2007
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Borck G et al.
Human Mutation, 2007
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A et al.
Nature Genetics, 2006