Ilaria Parenti
0000-0002-1825-6237
Universität Duisburg-Essen
32 papers found
Refreshing results…
Phenotypes and genotypes in individuals with SMC1A variants
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction
Identification and Functional Characterization of Two IntronicNIPBLMutations in Two Patients with Cornelia de Lange Syndrome
De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
Overall and allele-specific expression of theSMC1Agene in female Cornelia de Lange syndrome patients and healthy controls
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
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