ZOPPI, NICOLETTA

ZOPPI, NICOLETTA  

Dipartimento di Medicina Molecolare e Traslazionale  

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A -96C-T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolys bullosa 1-gen-2000 Gardella, Rita; Barlati, Sergio; Zoppi, Nicoletta; Tadini, G; Colombi, Marina
A cellular test for Ehlers-Danlos syndromes diagnosis. 1-gen-2006 Colombi, Marina; Zoppi, Nicoletta; Coucke, P. J.; Mottes, M.; De Paepe, A.; Barlati, Sergio
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene 1-gen-2012 Castori, M.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Molisso, L.; Chiarelli, Nicola; Zaccagna, F.; Grammatico, P.; Colombi, Marina
Altered fibronectin RNA splicing in skin fibroblasts from Ehlers-Danlos syndrome patients: in situ hybridization analysis. 1-gen-1991 Colombi, Marina; Moro, L; Zoppi, Nicoletta; Ghinelli, A; Barlati, Sergio
Alternative splicing of mGluR6 gene generates a truncated glutamate receptor in rat retina. 1-gen-2001 Valerio, Alessandra; Zoppi, Nicoletta; Ferraboli, Sergio; Paterlini, M; Ferrario, Marina; Barlati, Sergio; Spano, Pier Franco
Angiocheratomas and arterovenous fistulas with dominant trasmission in the absence of metabolic disorders. 1-gen-1995 CALZAVARA PINTON, Piergiacomo; Colombi, Marina; Carlino, A; Gardella, Rita; Clemente, M; Moro, L; Zoppi, Nicoletta; Caimi, L; Barlati, Sergio; DE PANFILIS, G.
Angiokeratoma Corporis Diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. 1-gen-1995 CALZAVARA PINTON, Piergiacomo; Colombi, Marina; Carlino, A.; Zane, C.; Gardella, Rita; Clemente, M.; Facchetti, Fabio; Moro, L.; Zoppi, Nicoletta; Caimi, Luigi; Barlati, S.; DE PANFILIS, G.
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? 1-gen-2017 Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Marcolongo, P.; Gamberucci, A.; Benedetti, A.; Németh, C. E.; Bánhegyi, G.; Colombi, Marina
BIOLOGIA E GENETICA DEL MUSCOLO 1-gen-2011 Zoppi, Nicoletta; Colombi, Marina
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts 1-gen-2021 Chiarelli, Nicola; Zoppi, Nicoletta; Ritelli, Marco; Venturini, Marina; Capitanio, Daniele; Gelfi, Cecilia; Colombi, Marina
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome 1-gen-2015 Porter, Louise F.; Gallego Pinazo, Roberto; Keeling, Catherine L.; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes D.; Black, Graeme C.
Caratterizzazione ed espressione di slc2a10, l’ortologo in Danio rerio del gene umano coinvolto nella sindrome delle arterie tortuose. 1-gen-2009 Zoppi, Nicoletta; Ritelli, Marco Giuseppe; Chiarelli, Nicola; Benini, A.; Borsani, Giuseppe; Barlati, Sergio; Colombi, Marina
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes 1-gen-2019 Chiarelli, N.; Ritelli, M.; Zoppi, N.; Colombi, M.
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome. 1-gen-2009 Chiarelli, Nicola; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Benini, A.; Borsani, Giuseppe; Barlati, S.; Colombi, Marina
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio 1-gen-2011 Chiarelli, N.; Ritelli, M.; Zoppi, N.; Benini, A.; Borsani, G.; Barlati, S.; Colombi, M.
Characterization of a 13 aminoacid human fibronectin peptide induce matrix assembly and inhibiting migration and invasion in tumor cells 1-gen-2004 Colombi, Marina; Zoppi, Nicoletta; Ritelli, Marco Giuseppe; DE PETRO, Giuseppina; Marchina, Eleonora; Gardella, Rita; Ferraboli, Sergio; Barlati, Sergio
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β 1-gen-2019 Li, Juan; Ritelli, Marco; Ma, Cindy S; Rao, Geetha; Habib, Tanwir; Corvilain, Emilie; Bougarn, Salim; Cypowyj, Sophie; Grodecká, Lucie; Lévy, Romain; Béziat, Vivien; Shang, Lei; Payne, Kathryn; Avery, Danielle T; Migaud, Mélanie; Boucherit, Soraya; Boughorbel, Sabri; Guennoun, Andrea; Chrabieh, Maya; Rapaport, Franck; Bigio, Benedetta; Itan, Yuval; Boisson, Bertrand; Cormier-Daire, Valérie; Syx, Delfien; Malfait, Fransiska; Zoppi, Nicoletta; Abel, Laurent; Freiberger, Tomáš; Dietz, Harry C; Marr, Nico; Tangye, Stuart G; Colombi, Marina; Casanova, Jean-Laurent; Puel, Anne
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 1-gen-2012 Ritelli, Marco Giuseppe; Venturini, Marina; Dordoni, Chiara; Chiarelli, Nicola; Zoppi, Nicoletta; Garavelli, L.; Manfredini, E.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 1-gen-2013 Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 1-gen-2019 Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina