MILANI, DONATELLA

MILANI, DONATELLA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes 2023 Rinaldi, BerardoMilani, DonatellaGrilli, FedericoMarchisio, Paola + Article (author) -
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene 2023 Viviana TrittoFederico GrilliDonatella MilaniPaola Riva Article (author) -
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report 2022 Cacciatori, ElenaAleo, SebastianoMarchisio, Paola GiovannaMilani, Donatella + Article (author) -
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 2022 Alari, ValentinaVimercati, AlessandroGarzo, MariaMilani, DonatellaVignoli, AglaiaPeron, AngelaLarizza, LidiaRusso, Silvia + Article (author) -
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology 2022 Moresco, GiadaRondinone, OrnellaMauri, AlessiaColapietro, PatriziaMarfia, GiovanniGrilli, FedericoRinaldi, BerardoPrada, ElisabettaMiozzo, Monica RosaMilani, DonatellaFontana, Laura + Article (author) -
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review 2022 Napoli, LauraMilani, DonatellaFortunato, FrancescoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report 2021 Moresco G.Rondinone O.Grilli F.Prada E.Marchisio P.Miozzo M.Fontana L.Milani D. + 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) -
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 2020 Prada E.Ricci S.Milani D.Gervasini C. + Article (author) -
Unexpected phenotype in a frameshift mutation of PTCH1 2020 BELTRAMI, BENEDETTAPrada E.Tolva G.Silipigni R.Bulfamante G.Gervasini C.Marchisio P.Milani D. + Article (author) -
Complex genomic alterations and intellectual disability: an interpretative challenge 2020 Silipigni R.Milani D.Tolva G.Monfrini E.Marchisio P. G. + Article (author) -
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery 2020 Cinnante, ClaudiaPrada, ElisabettaScuvera, GiuliettaTriulzi, FabioMarchisio, PaolaGervasini, CristinaMilani, Donatella + Article (author) -
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 2020 Maitz S.Milani D.Peron A. + Article (author) -
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5 2020 Milani D.Pansa A.Marchisio P.Silipigni R. + Article (author) -
Aortic dilation in Sotos syndrome : an underestimated feature? 2020 Pezzani L.Peron A.Marchisio P. G.Colli A.Milani D. + Article (author) -
Clinically non-functioning pituitary incidentalomas: characteristics and natural history 2020 G. CarosiN. BetellaG. Del SindacoR. IndirliC. GiavoliE. MorenghiM. LocatelliD. MilaniM. ArosioG. Mantovani + Article (author) -
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 2019 Tonduti, DavideMilani, Donatella + Article (author) -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 2019 Milani D.Peron A. + Article (author) -
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome 2018 Paganini, LedaPesenti, ChiaraMilani, DonatellaFontana, LauraMotta, SilviaSirchia, Silvia MariaScuvera, GiuliettaMarchisio, PaolaCinnante, Claudia MariaTabano, Silvia MariaMiozzo, Monica Rosa + Article (author) -
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review 2018 Ciaccio, ClaudiaScuvera, GiuliettaTucci, AriannaGentilin, BarbaraBaccarin, MarcoMarchisio, PaolaMilani, Donatella + Article (author) -