Sangiorgi, Eugenio

Sangiorgi, Eugenio  

ROMA - Dipartimento di Scienze della vita e sanità pubblica  

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Data di pubblicazione Titolo Autore(i) File
1-gen-2021 Identification of new candidate genes for spina bifida through exome sequencing Azzara, A.; Rendeli, C.; Crivello, A. M.; Brugnoletti, F.; Rumore, R.; Ausili, E.; Sangiorgi, E.; Gurrieri, F.
1-gen-2021 Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis D'Ambrosio, V.; Azzara, A.; Sangiorgi, E.; Gurrieri, F.; Hess, B.; Gambaro, G.; Ferraro, P. M.
1-gen-2020 DNA Methylation in the Diagnosis of Monogenic Diseases. Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A.
1-gen-2019 Phenotypic effects of chronic and acute use of methiopropamine in a mouse model Foti, Federica; Marti, Matteo; Ossato, Andrea; Bilel, Sabrine; Sangiorgi, Eugenio; Botrè, Francesco; Cerbelli, B; Baldi, Alfonso; De-Giorgio, Fabio
1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Sangiorgi, E; Azzara, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R
1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Sangiorgi, E; Azzarà, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R.
1-gen-2018 Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E
1-gen-2018 Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E.
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C.; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V.; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2015 A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy Milillo, A; La Carpia, F; Costanzi, S; D'Urbano, V; Martini, M; Lanuti, P; Vischini, G; Larocca, Lm; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, F; Sangiorgi, E
1-gen-2015 A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella
1-gen-2013 BMI1 represses Ink4a/Arf and Hox genes to regulate stem cells in the rodent incisor Biehs, B; Hu, Jk; Strauli, Nb; Sangiorgi, Eugenio; Jung, H; Heber, R; Ho, S; Goodwin, Af; Dasen, Js; Capecchi, Mr; Klein, Od
1-gen-2012 The intestinal stem cell markers Bmi1 and Lgr5 identify two functionally distinct populations Yan, Ks; Chia, La; Li, X; Ootani, A; Su, J; Lee, Jy; Su, N; Luo, Y; Heilshorn, Sc; Amieva, Mr; Sangiorgi, Eugenio; Capecchi, Mr; Kuo, Cj
1-gen-2010 Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia Zannoni, Gf; Vellone, Vg; Cordisco, El; Sangiorgi, Eugenio; Grimaldi, Me; Neri, C; Nanni, L; Neri, G.
1-gen-2009 Bmi1 lineage tracing identifies a self-renewing pancreatic acinar cell subpopulation capable of maintaining pancreatic organ homeostasis Sangiorgi, Eugenio; Capecchi, Mr
1-gen-2009 Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia Zannoni, G. F; Vellone, G; Cordisco, E. L; Sangiorgi, Eugenio; Grimaldi, Maria Eufemia; Neri, Caterina; Nanni, L; Neri, Giovanni
1-gen-2009 Sustained in vitro intestinal epithelial culture within a Wnt-dependent stem cell niche Ootani, A; Li, X; Sangiorgi, Eugenio; Ho, Qt; Ueno, H; Toda, S; Sugihara, H; Fujimoto, K; Weissman, Il; Capecchi, Mr; Kuo, Cj
1-gen-2008 Bmi1 is expressed in vivo in intestinal stem cells Sangiorgi, Eugenio; Capecchi, Mr
1-gen-2008 In vivo evaluation of PhiC31 recombinase activity using a self-excision cassette Sangiorgi, Eugenio; Shuhua, Z; Capecchi, Mr