SCUVERA, GIULIETTA
SCUVERA, GIULIETTA
Universita' degli Studi di MILANO
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation
2017-03-01 C. Ciaccio, A. Tucci, G. Scuvera, M. Estienne, S. Esposito, D. Milani
The absence that makes the difference: choroidal abnormalities in Legius syndrome
2017-11-01 A. Tucci, V. Saletti, F. Menni, C. Cesaretti, G. Scuvera, S. Esposito, G. Melloni, S. Esposito, D. Milani, C. Cereda, M. Cigada, L. Tresoldi, F. Viola, F. Natacci
Autoimmunity and cytokine imbalance in inherited epidermolysis bullosa
2016-09-24 S. Esposito, S. Guez, A. Orenti, G. Tadini, G. Scuvera, L. Corti, A. Scala, E. Biganzoli, E. Berti, N. Principi
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
2017-10-01 L. Ferrari, G. Scuvera, A. Tucci, D. Bianchessi, F. Rusconi, F. Menni, E. Battaglioli, D. Milani, P. Riva
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases
2017-03-01 A. Tucci, L. Pezzani, G. Scuvera, L. Ronzoni, E. Scola, S. Esposito, D. Milani
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
2016-01-01 A. Tucci, C. Ciaccio, G. Scuvera, S. Esposito, D. Milani
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review
2018-11-17 C. Ciaccio, G. Scuvera, A. Tucci, B. Gentilin, M. Baccarin, P. Marchisio, S. Avignone, D. Milani
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
2018-06-01 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
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
2020-08-01 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
Perthes disease : A new finding in Floating-Harbor syndrome
2018-03-01 D. Milani, G. Scuvera, M. Gatti, G. Tolva, F. Bonarrigo, S. Esposito, C. Gervasini
Progressive bone impairment with age and pubertal development in neurofibromatosis type I
2018-08-27 G. Rodari, G. Scuvera, F.M. Ulivieri, E. Profka, F. Menni, V. Saletti, S. Esposito, S. Bergamaschi, E. Ferrante, C. Eller-Vainicher, S. Esposito, M. Arosio, C. Giavoli
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome : review and description of two additional patients"
2015-11-01 L. Ronzoni, V. Saletti, G. Scuvera, S. Esposito, D. Milani