Sangiorgi, Eugenio
Sangiorgi, Eugenio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
From Churchill to Elephants: The Role of Protective Genes against Cancer
2024 Gazzellone, Annalisa; Sangiorgi, Eugenio
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
2023 Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo
Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study
2023 Benintende, Giulia; Innocenti, Idanna; Fresa, Alberto; Autore, Francesco; Tomasso, Annamaria; Piciocchi, Alfonso; Vuono, Florenzia; Stirparo, Luca; Mosca, Antonio; Bacigalupo, Andrea; Gattei, Valter; Efremov, Dimitar; Sangiorgi, Eugenio; Laurenti, Luca
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers
2023 Sangiorgi, Eugenio; Azzara, A.; Rumore, R.; Cassano, Ilaria; Verrecchia, Elena; Giaco, L.; Tullio, M. A.; Gurrieri, Fiorella; Manna, Raffaele
RADX Gene Variant May Predispose to Familial Asperger Syndrome
2023 Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment
2023 Paciaroni, K.; Sangiorgi, Eugenio; Pulvirenti, F.; Villiva, N.; Andrizzi, C.; Campagna, S.; Tordi, A.; Celesti, F.; Manna, Raffaele; Gurrieri, Fiorella; Licci, S.; di Toritto, T. C.
Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study
2022 Benintende, Giulia; Innocenti, Idanna; Fresa, Alberto; Autore, Francesco; Tomasso, Annamaria; Piciocchi, Alfonso; Vuono, Florenzia; Stirparo, Luca; Mosca, Antonio; Bacigalupo, Andrea; Gattei, Valter; Efremov, Dimitar; Sangiorgi, Eugenio; Laurenti, Luca
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
The clinical chameleon of autoinflammatory diseases in children
2022 Sangiorgi, Eugenio; Rigante, Donato
Identification of new candidate genes for spina bifida through exome sequencing
2021 Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis
2021 D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel
DNA Methylation in the Diagnosis of Monogenic Diseases.
2020 Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; 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, Eugenio; Azzara, A; Molinario, C; Pietrobono, R; Rigante, Donato; Verrecchia, E; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
2019 Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
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, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio
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, Annamaria; Molinario, Clelia; Costanzi, Stefano; Vischini, Gisella; La Carpia, Francesca; La Greca, F; Rigante, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio
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
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
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects
2016 La Carpia, Francesca; Rendeli, Claudia; Clelia, Molinario; Milillo, Annamaria; Farroni, Chiara; Cannelli, Natalia; Ausili, Emanuele; Paolucci, Valentina; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2024 | From Churchill to Elephants: The Role of Protective Genes against Cancer | Gazzellone, Annalisa; Sangiorgi, Eugenio | |
| 1-gen-2023 | Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid | Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo | |
| 1-gen-2023 | Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study | Benintende, Giulia; Innocenti, Idanna; Fresa, Alberto; Autore, Francesco; Tomasso, Annamaria; Piciocchi, Alfonso; Vuono, Florenzia; Stirparo, Luca; Mosca, Antonio; Bacigalupo, Andrea; Gattei, Valter; Efremov, Dimitar; Sangiorgi, Eugenio; Laurenti, Luca | |
| 1-gen-2023 | Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers | Sangiorgi, Eugenio; Azzara, A.; Rumore, R.; Cassano, Ilaria; Verrecchia, Elena; Giaco, L.; Tullio, M. A.; Gurrieri, Fiorella; Manna, Raffaele | |
| 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-2023 | Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment | Paciaroni, K.; Sangiorgi, Eugenio; Pulvirenti, F.; Villiva, N.; Andrizzi, C.; Campagna, S.; Tordi, A.; Celesti, F.; Manna, Raffaele; Gurrieri, Fiorella; Licci, S.; di Toritto, T. C. | |
| 1-gen-2022 | Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study | Benintende, Giulia; Innocenti, Idanna; Fresa, Alberto; Autore, Francesco; Tomasso, Annamaria; Piciocchi, Alfonso; Vuono, Florenzia; Stirparo, Luca; Mosca, Antonio; Bacigalupo, Andrea; Gattei, Valter; Efremov, Dimitar; Sangiorgi, Eugenio; Laurenti, Luca | |
| 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-2022 | The clinical chameleon of autoinflammatory diseases in children | Sangiorgi, Eugenio; Rigante, Donato | |
| 1-gen-2021 | Identification of new candidate genes for spina bifida through exome sequencing | Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| 1-gen-2021 | Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis | D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel | |
| 1-gen-2020 | DNA Methylation in the Diagnosis of Monogenic Diseases. | Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; 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, Eugenio; Azzara, A; Molinario, C; Pietrobono, R; Rigante, Donato; Verrecchia, E; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 1-gen-2019 | Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. | Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 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, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio | |
| 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, Annamaria; Molinario, Clelia; Costanzi, Stefano; Vischini, Gisella; La Carpia, Francesca; La Greca, F; Rigante, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio | |
| 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-2016 | Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects | La Carpia, Francesca; Rendeli, Claudia; Clelia, Molinario; Milillo, Annamaria; Farroni, Chiara; Cannelli, Natalia; Ausili, Emanuele; Paolucci, Valentina; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella |