In search of the SLC2A10 gene role in the etiopathogenesis of Arterial Tortuosity Syndrome by gene expression analysis.
2013-01-01 Chiarelli, N; Zoppi, N; Ritelli, M; Colombi, M.
Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient
2012-01-01 Chiarelli, N; Ritelli, M; Dordoni, C; Quinzani, S; Traversa, M; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with the novel homozygous c.1411+1G>A mutation in the SLC2A10 Gene.
2011-01-01 Ritelli, M; Castori, M; Zoppi, N; Chiarelli, N; Molosso, L; Zaccagna, F; Grammatico, P; Colombi, M.
Studio del gene malattia SLC2A10 in zebrafish
2009-01-01 Chiarelli, N
Classic Ehlers-Danlos sindrome: clinical and molecular characterization of 36 patients.
2011-01-01 Ritelli, M; Venturini, M; Dordoni, C; Chiarelli, N; Zoppi, N; Vascellaro, A; Wischmeijer, A; Rosato, S; Garavelli, L; Calzavara-Pinton, P; Colombi, M.
Caratterizzazione clinico-molecolare di una famiglia con una forma grave di sindrome di Loeys-Dietz tipo III causata da una nuova mutazione in SMAD3.
2013-01-01 Gigante, L; Brancati, F; Sangiuolo, Fc; Ritelli, M; Chiarelli, N; Colombi, M.
Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1
2015-01-01 Ritelli, M; Chiarelli, N; Zoppi, N; Dordoni, C; Quinzani, S; Traversa, M; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene.
2013-01-01 Dordoni, C; Ritelli, M; Chiarelli, N; Quinzani, S; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Reffo, E; Milanesi, O; Colombi, M.
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype.
2011-01-01 Zoppi, N; Ritelli, M; Chiarelli, N; Colombi, M; Barlati, S.
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz.
2012-01-01 Morlino, S; Castori, M; Ritelli, M; Radio, Fc; Valiante, M; Chiarelli, N; Colombi, M; Morrone, A; Grammatico, P.
La messa in scena del potere in Antonio e Cleopatra di William Shakespeare
2011-01-01 DOERR ROXANNE, B.
Le sindromi di Ehlers-Danlos
2013-01-01 Colombi, M; Venturini, M; Ritelli, M; Dordoni, C; Chiarelli, N; Quinzani, S; Pezzani, L; Vascellaro, A; Zoppi, N; Calzavara-Pinton, P.
Enter Peter Ackroyd’s Nicholas Dyer, Architect, Devil Worshipper and Murderer
2011-01-01 Doerr, ROXANNE BARBARA
Characterization of a 24-year-old woman with osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping phenotype due to the novel c.3469_3470del mutation in the COL1A1 gene.
2013-01-01 Ritelli, M; Castori, M; Chiarelli, N; Grammatico, P; Colombi, M.
Blood will have blood: Vengeance and Injustice in Salman Rushdie’s Shalimar the Clown
2012-01-01 Doerr, ; Roxanne, Barbara
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp
2005-01-01 Losso, Ma; Caracciolo, S; Chiarelli, N; Lepore, Sm; Vuono, R.
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia
2013-01-01 Castori, M; Ritelli, M; Morlino, S; Celletti, C; Chiarelli, N; Dordoni, C; Bruschini, M; Blundo, C; Camerota, F; Colombi, M; Grammatico, P.
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria.
2011-01-01 Dordoni, C; Ritelli, M; Venturini, M; Chiarelli, N; Vascellaro, A; Coniglio, A; Tiberio, Gam; Giulini, Sm; Calzavara-Pinton, P; Colombi, M.
In vitro evaluation of macroalgae (Ascophyllum nodosum and Lithothamnium calcareum) and microalgae (Schizochytrium spp.) for animal nutrition
2019-01-01 Dell’Anno, Matteo; Sotira, Stefania; Hejna, Monika; Caprarulo, Valentina; Reggi, Serena; Rossi, Luciana
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio
2008-01-01 Ritelli, M; Chiarelli, N; Zoppi, N; Benini, A Borsani G; Barlati, S; Colombi, M.
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