PEZZANI, LIDIA
PEZZANI, LIDIA
Universita' degli Studi di MILANO
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
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
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
A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9
2019 R. Indellicato, R. Domenighini, N. Malagolini, A. Cereda, D. Mamoli, L. Pezzani, M. Iascone, F. Dall'Olio, M. Trinchera
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
Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases
2017 B. Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, G. Silvana, L. Canazza, L. Ernesto, L.L. Colombo, L. Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases
2017 A. Tucci, L. Pezzani, G. Scuvera, L. Ronzoni, E. Scola, S. Esposito, D. Milani
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
HOXA genes cluster: clinical implications of the smallest deletion
2015 L. Pezzani, D. Milani, F. Manzoni, M. Baccarin, R. Silipigni, S. Guerneri, S. Esposito
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
2015 D. Milani, F. Manzoni, L. Pezzani, P. Ajmone, C. Gervasini, F. Menni, S. Esposito
Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa
2015 G. Tadini, L. Pezzani, S. Ghirardello, P. Rebulla, S. Esposito, F. Mosca
Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa
2015 G. Tadini, S. Guez, L. Pezzani, M. Marconi, N. Greppi, F. Manzoni, P. Rebulla, S. Esposito
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300
2015 D. Milani, L. Pezzani, G. Negri, C. Gervasini, S. Esposito
A multidisciplinary approach in neurofibromatosis 1
2015 D. Milani, L. Pezzani, G. Tadini, F. Menni, S. Esposito
Syndromic obesity : clinical implications of a correct diagnosis
2014 D. Milani, M. Cerutti, L. Pezzani, P. Maffei, G. Milan, S. Esposito
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
Anemic nevus in neurofibromatosis type 1
2013 G. Tadini, M. Brena, L. Pezzani, C. Gelmetti, F. Santagada, M.P. Boldrini