GERVASINI, CRISTINA COSTANZA GIOVANNA

GERVASINI, CRISTINA COSTANZA GIOVANNA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies 2024 Di Fede, ElisabettaLettieri, AntonellaTaci, EsiCastiglioni, SilviaParodi, ChiaraColombo, Elisa AdeleGrazioli, PaoloMarchisio, PaolaMassa, ValentinaGervasini, Cristina + Article (author) -
SMC1A epilepsy syndrome: clinical data from a large international cohort 2024 Gibellato, ElisabettaMariani, MilenaMassa, ValentinaGervasini, Cristina + Article (author) -
Dermatological findings in Rubinstein-Taybi Syndrome 2023 Cerri, AmilcareGervasini, Cristina + Article (author) -
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling 2023 Elisa Adele ColomboPalma FinelliCristina Gervasini + Article (author) -
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 2022 Gervasini, Cristina + Article (author) -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 2022 Gervasini C. + Article (author) -
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene 2022 Gervasini C.Marchisio P. + Article (author) -
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A) 2022 Cristina GervasiniYvan TorrenteGiulio Pompilio + Article (author) -
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 2022 Gervasini, Cristina + Article (author) -
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 2022 Massa, ValentinaDi Fede, ElisabettaCastiglioni, SilviaGervasini, Cristina + Article (author) -
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 2022 Gervasini C + Article (author) -
KMT2A : umbrella gene for multiple diseases 2022 Castiglioni, SilviaDi Fede, ElisabettaBernardelli, ClaraLettieri, AntonellaParodi, ChiaraGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaOttaviano, EmerenzianaBorghi, ElisaMassa, ValentinaGhelma, FilippoVignoli, AglaiaLesma, ElenaGervasini, Cristina + Article (author) -
LAM cells as potential drivers of senescence in lymphangioleiomyomatosis microenvironment 2022 Clara BernardelliSilvia AnconaAntonella LettieriValentina MassaCristina GervasiniFabiano Di MarcoRaffaella ChiaramonteElena Lesma + Article (author) -
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 2022 Di Fede, ElisabettaGrazioli, PaoloColombo, Elisa AdeleAncona, SilviaPriori, AlbertoGervasini, CristinaMassa, Valentina + Article (author) -
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 2021 Di Fede E.Peron A.Colombo E. A.Gervasini C.Vignoli A. Article (author) -
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines 2021 Silvana PileggiElisa Adele ColomboLaura FontanaPatrizia ColapietroAnnamaria MorottiSilvia TabanoMyriam AlcalayCristina GervasiniMonica MiozzoSilvia Maria Sirchia + Article (author) -
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome 2021 Grazioli P.Parodi C.Bottai D.Di Fede E.Zulueta A.Avagliano L.Tenconi R.Adami R.Vaccari T.Gervasini C.Massa V. + Article (author) -
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 2021 Di Fede E.Ottaviano E.Grazioli P.Ceccarani C.Galeone A.Parodi C.Colombo E. A.Bassanini G.Milani D.Verduci E.Vaccari T.Massa V.Borghi E.Gervasini C. + Article (author) -
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient 2021 Gervasini C. + Article (author) -
ANKRD11 variants : KBG syndrome and beyond 2021 Cristina Gervasini + Article (author) -