PARENTI, ILARIA

PARENTI, ILARIA  

Dipartimento di Scienze della Salute  

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Risultati 1 - 12 di 12 (tempo di esecuzione: 0.002 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 2024 Parenti, IlariaPersani, Luca + Article (author) -
Chromatinopathies: a focus on Cornelia de Lange Syndrome 2020 Avagliano, LauraParenti, IlariaGrazioli, PaoloDi Fede, ElisabettaParodi, ChiaraMariani, MilenaGervasini, CristinaMassa, Valentina + Article (author) -
CORNELIA DE LANGE SYNDROME AND RELATED DISORDERS: NEW INSIGHTS INTO GLOBAL TRANSCRIPTIONAL DISTURBANCES DUE TO MUTATIONS IN CHROMATIN-ASSOCIATED FACTORS 2016 I. Parenti Doctoral Thesis -
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction 2016 I. ParentiC. Gervasini + Article (author) -
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype 2016 I. ParentiC. GervasiniJ. AzzolliniA. CeredaM. MarianiL. Larizza + Article (author) -
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes 2015 I. Parenti + Article (author) -
Hidden Mutations in Cornelia de Lange Syndrome : Limitations of Sanger Sequencing in Molecular Diagnostics 2015 I. Parenti + Article (author) -
De novo heterozygous mutations in SMC3 cause a range of Cornelia De Lange syndrome-overlapping phenotypes 2015 I. ParentiC. GervasiniL. Larizza + Article (author) -
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy 2014 J. AzzolliniD. RovinaC. GervasiniI. ParentiA. FratoniA. CerriL. PietrograndeL. Larizza + Article (author) -
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls 2014 I. ParentiD. RovinaM. MasciadriA. CeredaJ. AzzolliniP. FinelliC. GervasiniL. Larizza + Article (author) -
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 2013 C. GervasiniA. CeredaI. ParentiM. MasciadriJ. AzzolliniL. Larizza + Article (author) -
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype 2013 C. GervasiniI. ParentiJ. AzzolliniP. FinelliL. Larizza + Article (author) -