Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
|
26386245 |
2015 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
|
26358754 |
2015 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
|
25125236 |
2014 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
|
24124034 |
2013 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
|
20635401 |
2010 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
AlteredExpression
|
disease |
BEFREE |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
Congenital muscular hypertrophy-cerebral syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |