MILANI, DONATELLA

MILANI, DONATELLA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 49 (tempo di esecuzione: 0.004 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) -
The absence that makes the difference: choroidal abnormalities in Legius syndrome 1-nov-2017 Tucci, AriannaScuvera, GiuliettaMelloni, GiuliaMilani, DonatellaViola, Francesco + 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) -
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) -
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) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 1-gen-2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (author) -
Ehlers-Danlos syndrome versus cleidocranial dysplasia 24-mag-2014 F. BonarrigoD. MilaniS. Esposito + Article (author) -
Fragile X syndrome : A review of clinical and molecular diagnoses 19-apr-2017 C. CiaccioL. FontanaD. MilaniS. TabanoM. MiozzoS. Esposito Article (author) -
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 1-feb-2016 G. NegriD. MilaniP. ColapietroD. RusconiM. CrippaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Hepatoblastoma in Rubinstein-Taybi Syndrome: a case report 1-gen-2016 D. MilaniF.A. BonarrigoC. GervasiniS. Esposito + Article (author) -
HOXA genes cluster: clinical implications of the smallest deletion 10-apr-2015 L. PezzaniD. MilaniF. ManzoniM. BaccarinR. SilipigniS. Esposito + Article (author) -