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-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-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, Maurizio; Lanuti, P; Vischini, G; Larocca, Luigi Maria; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, Fiorella; Sangiorgi, Eugenio