Sangiorgi, Eugenio
Sangiorgi, Eugenio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
RADX Gene Variant May Predispose to Familial Asperger Syndrome
2023 Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella
The clinical chameleon of autoinflammatory diseases in children
2022 Sangiorgi, E; Rigante, D
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
2022 Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert B; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L
Identification of new candidate genes for spina bifida through exome sequencing
2021 Azzara, A.; Rendeli, C.; Crivello, A. M.; Brugnoletti, F.; Rumore, R.; Ausili, E.; Sangiorgi, E.; Gurrieri, F.
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis
2021 D'Ambrosio, V.; Azzara, A.; Sangiorgi, E.; Gurrieri, F.; Hess, B.; Gambaro, G.; Ferraro, P. M.
DNA Methylation in the Diagnosis of Monogenic Diseases.
2020 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.
Phenotypic effects of chronic and acute use of methiopropamine in a mouse model
2019 Foti, Federica; Marti, Matteo; Ossato, Andrea; Bilel, Sabrine; Sangiorgi, Eugenio; Botrè, Francesco; Cerbelli, B; Baldi, Alfonso; De-Giorgio, Fabio
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
2019 Sangiorgi, E; Azzara, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
2019 Sangiorgi, E; Azzarà, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R.
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura
2018 Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
2016 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
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura
2018 Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E.
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
2016 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
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy
2015 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
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
2015 Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella
The intestinal stem cell markers Bmi1 and Lgr5 identify two functionally distinct populations
2012 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
BMI1 represses Ink4a/Arf and Hox genes to regulate stem cells in the rodent incisor
2013 Biehs, B; Hu, Jk; Strauli, Nb; Sangiorgi, Eugenio; Jung, H; Heber, R; Ho, S; Goodwin, Af; Dasen, Js; Capecchi, Mr; Klein, Od
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia
2010 Zannoni, Gf; Vellone, Vg; Cordisco, El; Sangiorgi, Eugenio; Grimaldi, Me; Neri, C; Nanni, L; Neri, G.
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia
2009 Zannoni, G. F; Vellone, G; Cordisco, E. L; Sangiorgi, Eugenio; Grimaldi, Maria Eufemia; Neri, Caterina; Nanni, L; Neri, Giovanni
Bmi1 lineage tracing identifies a self-renewing pancreatic acinar cell subpopulation capable of maintaining pancreatic organ homeostasis
2009 Sangiorgi, Eugenio; Capecchi, Mr
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2023 | RADX Gene Variant May Predispose to Familial Asperger Syndrome | Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| 1-gen-2022 | The clinical chameleon of autoinflammatory diseases in children | Sangiorgi, E; Rigante, D | |
| 1-gen-2022 | Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome | Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert B; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L | |
| 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-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-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-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-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-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-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 | 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 | Bmi1 lineage tracing identifies a self-renewing pancreatic acinar cell subpopulation capable of maintaining pancreatic organ homeostasis | Sangiorgi, Eugenio; Capecchi, Mr |