Sfoglia per Autore
Centa2 is expressed during heart development and is a candidate gene for CVMs
2008 M. Venturin, S. Brunelli, G. Gaudenzi, M. Stroppi, M. Crippa, F. Cotelli, P. Riva
Ricerca di interattori molecolari della centaurina-α2 : evidenze di associazione con la tubulina β
2008 M. Stroppi, M. Crippa, M. Venturin, E. Battaglioli, P. Riva
Searching for centaurin-α2 interacting proteins: evidence of interaction with tubulin-β
2009 M. Stroppi, M. Crippa, M. Venturin, E. Battaglioli, P. Riva
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL
2009 M. Crippa, D. Rusconi, C. Castronovo, M. Masciadri, S. Russo, C. Gervasini, D. Giardino, A. Selicorni, P.G. Flora, L. Memo, L. Larizza, P. Finelli
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q
2009 C. Castronovo, D. Rusconi, M. Crippa, C. Gervasini, D. Milani, A. Cereda, D. Giardino, L. Larizza, A. Selicorni, P. Finelli
Possible position effect on TRPS1 in a patient carrying t(2;8)(p16.1;q23.3) translocation with phenotype referring to trichorhinopahalangeal syndrome
2011 M. Crippa, M. Perotti, S. Tabano, C. Castronovo, C. Picinelli, L. Larizza, A.I. Pincelli, P. Finelli
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region
2011 P. Finelli, M. Crippa, E. Valtorta, C. Castronovo, M. Masciadri, S. Russo, M. Recalcati, D. Rusconi, D. Giardino, M. Bonati, F. Natacci, P. Castelluccio, L. Larizza
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
2012 P. Finelli, S. Sirchia, M. Masciadri, M. Crippa, M. Recalcati, D. Rusconi, D. Giardino, L. Monti, F. Cogliati, F. Faravelli, F. Natacci, L. Zoccante, B. Bernardina, S. Russo, L. Larizza
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype
2012 F.M. Elli, S. Ghirardello, C. Giavoli, S. Gangi, L. Dioni, M. Crippa, P. Finelli, S. Bergamaschi, F. Mosca, A. Spada, P. Beck Peccoz
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
2013 C. Castronovo, E. Valtorta, M. Crippa, S. Tedoldi, L. Romitti, M.C. Amione, S. Guerneri, D. Rusconi, L. Ballarati, D. Milani, E. Grosso, P. Cavalli, D. Giardino, M.T. Bonati, L. Larizza, P. Finelli
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing
2013 S. Moncini, M.F. Bedeschi, P. Castronovo, M. Crippa, M. Calvello, R.R. Garghentino, G. Scuvera, P. Finelli, M. Venturin
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
2013 C. Castronovo, D. Rusconi, M. Crippa, D. Giardino, C. Gervasini, D. Milani, A. Cereda, L. Larizza, A. Selicorni, P. Finelli
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
2013 C. Picinelli, S. Galletti, L. Calzari, M. Crippa, I. Bestetti, C. Castronovo, S. Cuzzetti, S. Russo, L. Larizza, P. Finelli
Central nervous system developmental disorder in Noonan syndrome: a genomic approach
2014 G. Baldassarre, M. Crippa, F. Dutto, I. Bestetti, A. Mussa, A. Sironi, C. Molinatto, M. Cirillo Silengo, P. Finelli, G.B. Ferrero
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 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
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
2014 M. Crippa, I. Bestetti, M. Perotti, C. Castronovo, S. Tabano, C. Picinelli, G. Grassi, L. Larizza, A.I. Pincelli, P. Finelli
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency
2014 I. Bestetti, C. Castronovo, M. Crippa, R. Rossetti, A. Pistocchi, C. Caslini, C. Sala, D. Toniollo, L. Persani, A. Marozzi, P. Finelli
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
2015 G. Roversi, C. Picinelli, I. Bestetti, M. Crippa, D. Perotti, S. Ciceri, F. Saccheri, P. Collini, P.L. Poliani, S. Catania, B. Peissel, F. Pagni, S. Russo, P. Peterlongo, S. Manoukian, P. Finelli
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.
2015 C. Castronovo, M. Crippa, I. Bestetti, D. Rusconi, S. Russo, L. Larizza, R. Sangermani, M. Bonati, P. Finelli
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
2015 M. Crippa, D. Rusconi, C. Castronovo, I. Bestetti, S. Russo, A. Cereda, A. Selicorni, L. Larizza, P. Finelli
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