Sfoglia per Autore
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests
2014-05-01 M. Crippa, C. Picinelli, S. Galletti, A. Sironi, L. Calzari, C. Castronovo, M. Cisternino, G.B. Ferrero, A. Riccio, A. Selicorni, M.T. Bonati, S. Russo, L. Larizza, P. Finelli
Central nervous system developmental disorder in Noonan syndrome: a genomic approach
2014-05-01 G. Baldassarre, M. Crippa, F. Dutto, I. Bestetti, A. Mussa, A. Sironi, C. Molinatto, M. Cirillo Silengo, P. Finelli, G.B. Ferrero
MBD5 molecular screening on Smith Magenis-like Syndrome patients without the typical 17p11.2 deletion
2016-05-20 M. Sciarrillo, C. Picinelli, I. Bestetti, A. Sironi, N. Kurtas, E. Ponti, A. Mihalich, L. Spaccini, M. Bedeschi, C. Pantaleoni, S. Maitz, A. Selicorni, D. Milani, L. Larizza, P. Finelli
Microdeletion in two unrelated patients with intellectual disability
2016-11-23 M. Sciarrillo, A. Sironi, I. Bestetti, D. Milani, L. Larizza, P. Finelli
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome
2018-01-01 E.A. Colombo, A. Locatelli, L. Cubells Sánchez, S. Romeo, N.H. Elcioglu, I. Maystadt, A.E. Martínez, A. Sironi, L. Fontana, P. Finelli, C. Gervasini, V. Pecile, L. Larizza
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
2018-07-01 V. Alari, S. Russo, B. Terragni, P.F. Ajmone, A. Sironi, I. Catusi, L. Calzari, D. Concolino, R. Marotta, D. Milani, D. Giardino, M. Mantegazza, C. Gervasini, P. Finelli, L. Larizza
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature
2018-09-01 I. Bestetti, A. Sironi, I. Catusi, M. Mariani, D. Giardino, S. Manoukian, D. Milani, L. Larizza, C. Castronovo, P. Finelli
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
2018-11-01 V. Cirello, V. Giorgini, C. Castronovo, S. Marelli, E. Mainini, A. Sironi, M. Recalcati, M. Pessina, D. Giardino, L. Larizza, L. Persani, P. Finelli, S. Russo, L. Fugazzola
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
2019-08-01 M. Bonati, C. Castronovo, A. Sironi, D. Zimbalatti, I. Bestetti, M. Crippa, A. Novelli, S. Loddo, M. Dentici, J. Taylor, F. Devillard, L. Larizza, P. Finelli
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders
2022-02-11 B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi
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