GILIANI, SILVIA CLARA
GILIANI, SILVIA CLARA
Dipartimento di Medicina Molecolare e Traslazionale
3D Aerosol Jet® printing for microstructuring: Advantages and Limitations
2023-01-01 Seiti, M.; Degryse, O.; Ferraro, R. M.; Giliani, S.; Bloemen, V.; Ferraris, E.
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.
1997-01-01 Ostenstad, B; Giliani, Silvia Clara; Mellbye, Oj; Nilsen, Br; Abrahamsen, T.
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency.
2002-01-01 Soresina, A; Insalaco, A; Giliani, Silvia Clara; Castagna, M; Forino, C; Arrighetti, A; Lougaris, V; Plebani, Alessandro
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
2019-01-01 Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Abu-Halaweh, Marwan; Brigida, Immacolata; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
2010-01-01 Wang, Hy; Gopalan, V; Aksentijevich, I; Yeager, M; Ma, Ca; Mohamoud, Ya; Quinones, M; Matthews, C; Boland, J; Niemela, Je; Torgerson, Tr; Giliani, Silvia Clara; Uzel, G; Orange, Js; Shapiro, R; Notarangelo, L; Ochs, Hd; Fleisher, T; Kastner, D; Chanock, Sj; Jain, A.
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
1993-01-01 Stefanini, M.; Vermeulen, W.; Weeda, G.; Giliani, S.; Nardo, T.; Mezzina, M.; Sarasin, A.; Harper, J. I.; Arlett, C. F.; Hoeijmakers, J. H. J.; Lehmann, A. R.
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome.
2004-01-01 Fiorini, Claudia; Jilani, S; Losi, Claretta Gioia; Silini, Antonietta; Giliani, Silvia Clara; Ferrari, S; Notarangelo, Luigi Daniele; Plebani, Alessandro; Sfar, T; Helal, A.
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.
2016-01-01 Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A.
A novel mutation in the POLE2 gene causing combined immunodeficiency
2015-01-01 Frugoni, Francesco; Dobbs, Kerry; Felgentreff, Kerstin; Aldhekri, Hasan; Al Saud, Bandar K.; Arnaout, Rand; Ali, Afshan Ashraf; Abhyankar, Avinash; Alroqi, Fayhan; Giliani, Silvia Clara; Ojeda, Mayra Martinez; Tsitsikov, Erdyni; Pai, Sung Yun; Casanova, Jean Laurent; Notarangelo, Luigi D.; Manis, John P.
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
2012-01-01 Lanzi, Gaetana; Moratto, Daniele; Vairo, Donatella; Masneri, Stefania; Delmonte, Ottavia; Paganini, Tiziana; Parolini, Silvia; Tabellini, Giovanna; Mazza, Cinzia; Savoldi, Gianfranco; Montin, Davide; Martino, Silvana; Tovo, Pierangelo; Pessach, Itai M.; Massaad, Michel J.; Ramesh, Narayanaswamy; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Luigi D.; Geha, Raif S.; Giliani, Silvia Clara
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actincytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding
2011-01-01 Massaad, Mj; Ramesh, N; Le Bras, S; Giliani, Silvia Clara; Notarangelo, Luigi Daniele; Al Herz, W; Notarangelo, Luigi Daniele; Geha, Rs
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
2014-01-01 Lee, Yn; Frugoni, F; Dobbs, K; Walter, Je; Giliani, Silvia Clara; Gennery, Ar; Al Herz, W; Haddad, E; Ledeist, F; Bleesing, Jh; Henderson, La; Pai, Sy; Nelson, Rp; El Ghoneimy, Dh; El Feky, Ra; Reda, Sm; Hossny, E; Soler Palacin, P; Fuleihan, Rl; Patel, Nc; Massaad, Mj; Geha, Rs; Puck, Jm; Palma, P; Cancrini, C; Chen, K; Vihinen, M; Alt, Fw; Notarangelo, L. D.
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency
2011-01-01 Rucci, F; Poliani, Pietro Luigi; Caraffi, S; Paganini, T; Fontana, E; Giliani, Silvia Clara; Alt, Fw; Notarangelo, Luigi Daniele
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency
2011-01-01 Rucci, F; Poliani, Pietro Luigi; Caraffi, S; Paganini, T; Fontana, Elena; Giliani, Silvia Clara; Alt, Fw; Notarangelo, Ld
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients
2020-01-01 Tessarin, Giulio; Rossi, Stefano; Baronio, Manuela; Gazzurelli, Luisa; Colpani, Michael; Benvenuto, Alessio; Zunica, Fiammetta; Cardinale, Fabio; Martire, Baldassarre; Brescia, Letizia; Costagliola, Giorgio; Luti, Laura; Casazza, Gabriella; Menconi, Maria Cristina; Saettini, Francesco; Palumbo, Laura; Girelli, Maria Federica; Badolato, Raffaele; Lanzi, Gaetana; Chiarini, Marco; Moratto, Daniele; Meini, Antonella; Giliani, Silvia; Bondioni, Maria Pia; Plebani, Alessandro; Lougaris, Vassilios
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
2013-01-01 Abraham, Rs; Recher, M; Giliani, Silvia Clara; Walter, Je; Lee, Yn; Frugoni, F; Maddox, De; Kirmani, S; Notarangelo, Luigi Daniele
Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation
2022-01-01 Seiti, Miriam; Ginestra, Paola Serena; Ferraro, Rosalba Monica; Giliani, Silvia; Vetrano, Rosaria Maria; Ceretti, Elisabetta; Ferraris, Eleonora
Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity
2014-01-01 Vairo, Donatella; Ferraro, R. M.; Moratto, Daniele; Pizzi, S.; Cattalini, Marco; Orcesi, S.; Tincani, Angela; Facchetti, Fabio; Galli, Jessica; Plebani, Alessandro; Crow, Y.; Notarangelo, L. D.; Plevani, P.; Fazzi, Elisa Maria; Giliani, Silvia Clara
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?
2013-01-01 Fazzi, Elisa Maria; Cattalini, Marco; Orcesi, S; Tincani, Angela; Andreoli, Laura; Balottin, U; De Simone, M; Fredi, M; Facchetti, Fabio; Galli, Jessica; Giliani, Silvia Clara; Izzotti, A; Meini, A; Olivieri, I; Plebani, Alessandro
ALTERED B AND T LYMPHOCYTE HOMEOSTASIS IN THE BONE MARROW AND THE PERIPHERY CORRELATES WITH CLINICAL FINDINGS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID)
2012-01-01 Lougaris, Vassilios; Baronio, M; Vitali, M; Masneri, Stefania; Cattivelli, K; Folsi, V; Tampella, G; Moratto, Daniele; Soresina, A; Badolato, Raffaele; Giliani, Silvia Clara; Plebani, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3D Aerosol Jet® printing for microstructuring: Advantages and Limitations | 1-gen-2023 | Seiti, M.; Degryse, O.; Ferraro, R. M.; Giliani, S.; Bloemen, V.; Ferraris, E. | |
| A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. | 1-gen-1997 | Ostenstad, B; Giliani, Silvia Clara; Mellbye, Oj; Nilsen, Br; Abrahamsen, T. | |
| A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. | 1-gen-2002 | Soresina, A; Insalaco, A; Giliani, Silvia Clara; Castagna, M; Forino, C; Arrighetti, A; Lougaris, V; Plebani, Alessandro | |
| A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency | 1-gen-2019 | Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Abu-Halaweh, Marwan; Brigida, Immacolata; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W | |
| A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. | 1-gen-2010 | Wang, Hy; Gopalan, V; Aksentijevich, I; Yeager, M; Ma, Ca; Mohamoud, Ya; Quinones, M; Matthews, C; Boland, J; Niemela, Je; Torgerson, Tr; Giliani, Silvia Clara; Uzel, G; Orange, Js; Shapiro, R; Notarangelo, L; Ochs, Hd; Fleisher, T; Kastner, D; Chanock, Sj; Jain, A. | |
| A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy | 1-gen-1993 | Stefanini, M.; Vermeulen, W.; Weeda, G.; Giliani, S.; Nardo, T.; Mezzina, M.; Sarasin, A.; Harper, J. I.; Arlett, C. F.; Hoeijmakers, J. H. J.; Lehmann, A. R. | |
| A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. | 1-gen-2004 | Fiorini, Claudia; Jilani, S; Losi, Claretta Gioia; Silini, Antonietta; Giliani, Silvia Clara; Ferrari, S; Notarangelo, Luigi Daniele; Plebani, Alessandro; Sfar, T; Helal, A. | |
| A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. | 1-gen-2016 | Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A. | |
| A novel mutation in the POLE2 gene causing combined immunodeficiency | 1-gen-2015 | Frugoni, Francesco; Dobbs, Kerry; Felgentreff, Kerstin; Aldhekri, Hasan; Al Saud, Bandar K.; Arnaout, Rand; Ali, Afshan Ashraf; Abhyankar, Avinash; Alroqi, Fayhan; Giliani, Silvia Clara; Ojeda, Mayra Martinez; Tsitsikov, Erdyni; Pai, Sung Yun; Casanova, Jean Laurent; Notarangelo, Luigi D.; Manis, John P. | |
| A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP | 1-gen-2012 | Lanzi, Gaetana; Moratto, Daniele; Vairo, Donatella; Masneri, Stefania; Delmonte, Ottavia; Paganini, Tiziana; Parolini, Silvia; Tabellini, Giovanna; Mazza, Cinzia; Savoldi, Gianfranco; Montin, Davide; Martino, Silvana; Tovo, Pierangelo; Pessach, Itai M.; Massaad, Michel J.; Ramesh, Narayanaswamy; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Luigi D.; Geha, Raif S.; Giliani, Silvia Clara | |
| A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actincytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding | 1-gen-2011 | Massaad, Mj; Ramesh, N; Le Bras, S; Giliani, Silvia Clara; Notarangelo, Luigi Daniele; Al Herz, W; Notarangelo, Luigi Daniele; Geha, Rs | |
| A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. | 1-gen-2014 | Lee, Yn; Frugoni, F; Dobbs, K; Walter, Je; Giliani, Silvia Clara; Gennery, Ar; Al Herz, W; Haddad, E; Ledeist, F; Bleesing, Jh; Henderson, La; Pai, Sy; Nelson, Rp; El Ghoneimy, Dh; El Feky, Ra; Reda, Sm; Hossny, E; Soler Palacin, P; Fuleihan, Rl; Patel, Nc; Massaad, Mj; Geha, Rs; Puck, Jm; Palma, P; Cancrini, C; Chen, K; Vihinen, M; Alt, Fw; Notarangelo, L. D. | |
| Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency | 1-gen-2011 | Rucci, F; Poliani, Pietro Luigi; Caraffi, S; Paganini, T; Fontana, E; Giliani, Silvia Clara; Alt, Fw; Notarangelo, Luigi Daniele | |
| Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency | 1-gen-2011 | Rucci, F; Poliani, Pietro Luigi; Caraffi, S; Paganini, T; Fontana, Elena; Giliani, Silvia Clara; Alt, Fw; Notarangelo, Ld | |
| Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients | 1-gen-2020 | Tessarin, Giulio; Rossi, Stefano; Baronio, Manuela; Gazzurelli, Luisa; Colpani, Michael; Benvenuto, Alessio; Zunica, Fiammetta; Cardinale, Fabio; Martire, Baldassarre; Brescia, Letizia; Costagliola, Giorgio; Luti, Laura; Casazza, Gabriella; Menconi, Maria Cristina; Saettini, Francesco; Palumbo, Laura; Girelli, Maria Federica; Badolato, Raffaele; Lanzi, Gaetana; Chiarini, Marco; Moratto, Daniele; Meini, Antonella; Giliani, Silvia; Bondioni, Maria Pia; Plebani, Alessandro; Lougaris, Vassilios | |
| Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. | 1-gen-2013 | Abraham, Rs; Recher, M; Giliani, Silvia Clara; Walter, Je; Lee, Yn; Frugoni, F; Maddox, De; Kirmani, S; Notarangelo, Luigi Daniele | |
| Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation | 1-gen-2022 | Seiti, Miriam; Ginestra, Paola Serena; Ferraro, Rosalba Monica; Giliani, Silvia; Vetrano, Rosaria Maria; Ceretti, Elisabetta; Ferraris, Eleonora | |
| Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity | 1-gen-2014 | Vairo, Donatella; Ferraro, R. M.; Moratto, Daniele; Pizzi, S.; Cattalini, Marco; Orcesi, S.; Tincani, Angela; Facchetti, Fabio; Galli, Jessica; Plebani, Alessandro; Crow, Y.; Notarangelo, L. D.; Plevani, P.; Fazzi, Elisa Maria; Giliani, Silvia Clara | |
| Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? | 1-gen-2013 | Fazzi, Elisa Maria; Cattalini, Marco; Orcesi, S; Tincani, Angela; Andreoli, Laura; Balottin, U; De Simone, M; Fredi, M; Facchetti, Fabio; Galli, Jessica; Giliani, Silvia Clara; Izzotti, A; Meini, A; Olivieri, I; Plebani, Alessandro | |
| ALTERED B AND T LYMPHOCYTE HOMEOSTASIS IN THE BONE MARROW AND THE PERIPHERY CORRELATES WITH CLINICAL FINDINGS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) | 1-gen-2012 | Lougaris, Vassilios; Baronio, M; Vitali, M; Masneri, Stefania; Cattivelli, K; Folsi, V; Tampella, G; Moratto, Daniele; Soresina, A; Badolato, Raffaele; Giliani, Silvia Clara; Plebani, Alessandro |