MILANI, DONATELLA

MILANI, DONATELLA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

Mostra records
Risultati 1 - 20 di 55 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation 1-mar-2017 C. CiaccioA. TucciG. ScuveraS. EspositoD. Milani + Article (author) -
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome 14-lug-2015 D. MilaniF. BonarrigoF. TriulziS. Esposito + Article (author) -
7p22.1 microduplication syndrome : refinement of the critical region 1-gen-2017 L. RonzoniL. PezzaniA. TucciM. BaccarinS. EspositoD. Milani + Article (author) -
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 1-gen-2010 D. MilaniS. MaitzL. Larizza + Article (author) -
A case report with the peculiar concomitance of 2 different genetic syndromes 1-gen-2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins 24-nov-2018 Paganini, LedaCHETTA, MASSIMILIANORovina, DavideFontana, LauraColapietro, PatriziaBonaparte, EleonoraPezzani, LidiaMarchisio, PaolaTabano, Silvia MSirchia, Silvia MRiboni, LauraMilani, DonatellaMiozzo, Monica + Article (author) -
A multidisciplinary approach in neurofibromatosis 1 1-gen-2015 D. MilaniL. PezzaniS. Esposito + Article (author) -
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report 31-mar-2021 Moresco G.Rondinone O.Grilli F.Prada E.Marchisio P.Miozzo M.Fontana L.Milani D. + Article (author) -
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome 1-giu-2018 Paganini, LedaPesenti, ChiaraMilani, DonatellaFontana, LauraMotta, SilviaSirchia, Silvia MariaScuvera, GiuliettaMarchisio, PaolaCinnante, Claudia MariaTabano, Silvia MariaMiozzo, Monica Rosa + Article (author) -
Aortic dilation in Sotos syndrome : an underestimated feature? 1-lug-2020 Pezzani L.Peron A.Marchisio P. G.Colli A.Milani D. + Article (author) -
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5 1-gen-2020 Milani D.Pansa A.Marchisio P.Silipigni R. + Article (author) -
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene 16-set-2014 D. MilaniL. PezzaniS. TabanoM. Miozzo Article (author) -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 1-set-2019 Milani D.Peron A. + 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 spectrum of PTEN mutation in pediatric patients. A bicenter experience 1-dic-2019 Tonduti, DavideMilani, Donatella + Article (author) -
Clinically non-functioning pituitary incidentalomas: characteristics and natural history 1-lug-2020 G. CarosiN. BetellaG. Del SindacoR. IndirliC. GiavoliE. MorenghiM. LocatelliD. MilaniM. ArosioG. Mantovani + Article (author) -
Complex genomic alterations and intellectual disability: an interpretative challenge 1-gen-2020 Silipigni R.Milani D.Tolva G.Monfrini E.Marchisio P. G. + 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 1-gen-2020 Maitz S.Milani D.Peron A. + Article (author) -
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 25-set-2013 C. GervasiniD. RusconiP. ColapietroS. SpenaG. NegriD. MilaniP. FinelliL. Larizza + Book Part (author) -
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene 1-gen-2023 Viviana TrittoFederico GrilliDonatella MilaniPaola Riva Article (author) -