MILANI, DONATELLA
MILANI, DONATELLA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation
2017 C. Ciaccio, A. Tucci, G. Scuvera, M. Estienne, S. Esposito, D. Milani
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
2015 D. Milani, F. Bonarrigo, S. Avignone, F. Triulzi, S. Esposito
7p22.1 microduplication syndrome : refinement of the critical region
2017 L. Ronzoni, F.S. Grassi, L. Pezzani, A. Tucci, M. Baccarin, S. Esposito, D. Milani
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies
2010 R. Caselli, L. Ballarati, A. Selicorni, D. Milani, S. Maitz, C. Valtorta, L. Larizza, D. Giardino
A case report with the peculiar concomitance of 2 different genetic syndromes
2016 A. Lerario, I. Colombo, D. Milani, L. Peverelli, L. Villa, R. DEL BO, M. Sciacco, G.P. Comi, S. Esposito, M. Moggio
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins
2018 L. Paganini, L.A. Hadi, M. Chetta, D. Rovina, L. Fontana, P. Colapietro, E. Bonaparte, L. Pezzani, P. Marchisio, S.M. Tabano, J. Costanza, S.M. Sirchia, L. Riboni, D. Milani, M. Miozzo
A multidisciplinary approach in neurofibromatosis 1
2015 D. Milani, L. Pezzani, G. Tadini, F. Menni, S. Esposito
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report
2021 G. Moresco, J. Costanza, C. Santaniello, O. Rondinone, F. Grilli, E. Prada, S. Orcesi, I. Coro, A. Pichiecchio, P. Marchisio, M. Miozzo, L. Fontana, D. Milani
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
2018 L. Paganini, C. Pesenti, D. Milani, L. Fontana, S. Motta, S.M. Sirchia, G. Scuvera, P. Marchisio, S. Esposito, C.M. Cinnante, S.M. Tabano, M.R. Miozzo
Aortic dilation in Sotos syndrome : an underestimated feature?
2020 L. Pezzani, L. Mauri, A. Selicorni, A. Peron, M. Grasso, A.C. Codazzi, A. Rimini, P.G. Marchisio, D. Coviello, A. Colli, D. Milani
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
2020 S. Aleo, D. Milani, A. Pansa, P. Marchisio, S. Guerneri, R. Silipigni
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene
2014 D. Milani, L. Pezzani, S. Tabano, M. Miozzo
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 M.C. Aspromonte, M. Bellini, A. Gasparini, M. Carraro, E. Bettella, R. Polli, F. Cesca, S. Bigoni, S. Boni, O. Carlet, S. Negrin, I. Mammi, D. Milani, A. Peron, S. Sartori, I. Toldo, F. Soli, L. Turolla, F. Stanzial, F. Benedicenti, C. Marino-Buslje, S.C.E. Tosatto, A. Murgia, E. Leonardi
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
2015 G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L.G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience
2019 C. Ciaccio, V. Saletti, S. D'Arrigo, S. Esposito, E. Alfei, I. Moroni, D. Tonduti, L. Chiapparini, C. Pantaleoni, D. Milani
Clinically non-functioning pituitary incidentalomas: characteristics and natural history
2020 A.S. Tresoldi, G. Carosi, N. Betella, G. Del Sindaco, R. Indirli, E. Ferrante, E. Sala, C. Giavoli, E. Morenghi, M. Locatelli, D. Milani, G. Mazziotti, A. Spada, M. Arosio, G. Mantovani, A. Lania
Complex genomic alterations and intellectual disability: an interpretative challenge
2020 R. Silipigni, D. Milani, G. Tolva, E. Monfrini, A. Giacobbe, P.G. Marchisio, S. Guerneri
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 G. Cappuccio, C. Sayou, P.L. Tanno, E. Tisserant, A.-. Bruel, S.E. Kennani, J. Sa, K.J. Low, C. Dias, M. Havlovicova, M. Hancarova, E.E. Eichler, F. Devillard, S. Moutton, J. Van-Gils, C. Dubourg, S. Odent, B. Gerard, A. Piton, T. Yamamoto, N. Okamoto, H. Firth, K. Metcalfe, A. Moh, K.A. Chapman, E. Aref-Eshghi, J. Kerkhof, A. Torella, V. Nigro, L. Perrin, J. Piard, G. Le Guyader, T. Jouan, C. Thauvin-Robinet, Y. Duffourd, J.K. George-Abraham, C.A. Buchanan, D. Williams, U. Kini, K. Wilson, V. Nigro, N. Brunetti-Pierri, G. Casari, G. Cappuccio, A. Torella, M. Pinelli, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, V. Capra, G. Parenti, V. Leuzzi, A. Selicorni, S. Maitz, S. Banfi, M. Zollino, M. Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, A. Peron, C. Pantaleoni, R. Castello, S. D'Arrigo, S.B. Sousa, R.C.M. Hennekam, B. Sadikovic, J. Thevenon, J. Govin, A. Vitobello, N. Brunetti-Pierri
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2013 C. Gervasini, D. Rusconi, P. Colapietro, S. Spena, C. Picinelli, G. Negri, D. Milani, A. Selicorni, P. Finelli, L. Larizza
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
2023 V. Tritto, F. Grilli, D. Milani, P.V. Riva