GERVASINI, CRISTINA COSTANZA GIOVANNA

GERVASINI, CRISTINA COSTANZA GIOVANNA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A new report of Cornelia de Lange syndrome associated with split hand and feet 1-nov-2012 C. Gervasini + Article (author) -
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 1-mar-2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
Adolescents and adults affected by Cornelia de Lange syndrome: a report of 73 Italian patients 1-giu-2016 C. Gervasini + Article (author) -
ANKRD11 variants : KBG syndrome and beyond 5-mag-2021 Cristina Gervasini + Article (author) -
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 25-nov-2012 C. GervasiniG. NegriP. ColapietroD. Rusconi..R. TenconiP. FinelliS. SpenaL. Larizza + Book Part (author) -
Le basi biologiche della vita 1-mag-2011 M. MiozzoA.E.G. PrinettiS.M. SirchiaC. Gervasini Book (author) -
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype 1-gen-2016 I. ParentiC. GervasiniJ. AzzolliniA. CeredaM. MarianiL. Larizza + Article (author) -
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients 1-giu-2014 M. MarianiA. CeredaC. Gervasini + Article (author) -
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 1-gen-2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Characterization of breakpoint boundaries in 19 Neurofibromatosis type 1 microdeletions 1-mag-2005 C. GervasiniM.VenturinP.RivaL. Larizza + Article (author) -
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 20-apr-2021 Parodi, ChiaraDi Fede, ElisabettaPeron, AngelaViganò, IlariaGrazioli, PaoloCastiglioni, SilviaGervasini, CristinaVignoli, AglaiaMassa, Valentina + Article (author) -
Chromatinopathies: a focus on Cornelia de Lange Syndrome 1-gen-2020 Avagliano, LauraParenti, IlariaGrazioli, PaoloDi Fede, ElisabettaParodi, ChiaraMariani, MilenaGervasini, CristinaMassa, Valentina + Article (author) -
CHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST 1-mag-2008 C. GervasiniF. MottadelliP. CastronovoL. Larizza + Article (author) -
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome 1-gen-2007 G. RoversiC. GervasiniP. CastronovoL. Larizza + Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 1-gen-2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood 1-lug-2021 Gervasini C. + Article (author) -
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation 1-ago-2007 C. GervasiniP. CastronovoA. BentivegnaL. Larizza + Article (author) -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 1-gen-2022 Gervasini C. + 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 2-nov-2021 Silvana PileggiElisa Adele ColomboLaura FontanaPatrizia ColapietroAnnamaria MorottiSilvia TabanoMyriam AlcalayCristina GervasiniMonica MiozzoSilvia Maria Sirchia + Article (author) -
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient 1-mag-2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -