MILANI, DONATELLA
MILANI, DONATELLA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
2024 S. Castiglioni, L. Pezzoli, L. Pezzani, A. Lettieri, E. Di Fede, A. Cereda, S. Ancona, A. Gallina, E.A. Colombo, C. Parodi, P. Grazioli, E. Taci, D. Milani, M. Iascone, V. Massa, C. Gervasini
CATSHL syndrome, a new family and phenotypic expansion
2024 S. Cannova, C. Meossi, F. Grilli, D. Milani, F. Alberti, C. Cesaretti, P.G. Marchisio, F. Crosti, L. Pezzani
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
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
2023 B. Rinaldi, A. Bayat, L.G. Zachariassen, J. Sun, Y. Ge, D. Zhao, K. Bonde, L.H. Madsen, I.A.A. Awad, D. Bagiran, A. Sbeih, S.M. Shah, S. El-Sayed, S.M. Lyngby, M.G. Pedersen, C. Stenum-Berg, L.C. Walker, I. Krey, A. Delahaye-Duriez, L.T. Emrick, K. Sully, C.N. Murali, L.C. Burrage, J.A. Plaud Gonzalez, M. Parnes, J. Friedman, B. Isidor, J. Lefranc, S. Redon, D. Heron, C. Mignot, B. Keren, M. Fradin, C. Dubourg, S. Mercier, T. Besnard, B. Cogne, W. Deb, C. Rivier, D. Milani, M.F. Bedeschi, C. Di Napoli, F. Grilli, P. Marchisio, S. Koudijs, D. Veenma, E. Argilli, S.A. Lynch, P.Y.B. Au, F.E. Ayala Valenzuela, C. Brown, D. Masser-Frye, M. Jones, L. Patron Romero, W.L. Li, E. Thorpe, L. Hecher, J. Johannsen, J. Denecke, V. Mcniven, A. Szuto, E. Wakeling, V. Cruz, V. Sency, H. Wang, J. Piard, F. Kortüm, T. Herget, T. Bierhals, A. Condell, B.B. Zeev, S. Kaur, J. Christodoulou, A. Piton, C. Zweier, C. Kraus, A. Micalizzi, M. Trivisano, N. Specchio, G. Lesca, R.S. Møller, Z. Tümer, M. Musgaard, B. Gerard, J.R. Lemke, Y.S. Shi, A.S. Kristensen
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
2022 F. Magri, S. Antognozzi, M. Ripolone, S. Zanotti, L. Napoli, P. Ciscato, D. Velardo, G. Scuvera, V. Nicotra, A. Giacobbe, D. Milani, F. Fortunato, M. Garbellini, M. Sciacco, S. Corti, G.P. Comi, D. Ronchi
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
2022 G. Moresco, O. Rondinone, A. Mauri, J. Costanza, C. Santaniello, P. Colapietro, E. Micaglio, G. Marfia, C. Pesenti, F. Grilli, B. Rinaldi, E. Prada, G. Scuvera, R. Villa, M.F. Bedeschi, M.R. Miozzo, D. Milani, L. Fontana
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
2022 S. Perego, V. Alari, G. Pietra, A. Lamperti, A. Vimercati, N. Camporeale, M. Garzo, F. Cogliati, D. Milani, A. Vignoli, A. Peron, L. Larizza, T. Pizzorusso, S. Russo
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
2022 E. Cacciatori, S. Aleo, G. Scuvera, C. Rigon, P.G. Marchisio, M. Cassina, D. Milani
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome
2021 E. Di Fede, E. Ottaviano, P. Grazioli, C. Ceccarani, A. Galeone, C. Parodi, E.A. Colombo, G. Bassanini, G. Fazio, M. Severgnini, D. Milani, E. Verduci, T. Vaccari, V. Massa, E. Borghi, C. Gervasini
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
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
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
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
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
2020 S. Aleo, C. Cinnante, S. Avignone, E. Prada, G. Scuvera, P.F. Ajmone, A. Selicorni, M.A. Costantino, F. Triulzi, P. Marchisio, C. Gervasini, D. Milani
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
2020 F. Saettini, R. Herriot, E. Prada, M. Nizon, D. Zama, A. Marzollo, I. Romaniouk, V. Lougaris, M. Cortesi, A. Morreale, R. Kosaki, F. Cardinale, S. Ricci, E. Dominguez-Garrido, D. Montin, M. Vincent, D. Milani, A. Biondi, C. Gervasini, R. Badolato
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
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
Unexpected phenotype in a frameshift mutation of PTCH1
2020 B. Beltrami, E. Prada, G. Tolva, G. Scuvera, R. Silipigni, D. Graziani, G. Bulfamante, C. Gervasini, P. Marchisio, D. Milani
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 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