SAVOIA, Anna
SAVOIA, Anna
DIPARTIMENTO DI INGEGNERIA PER LA MEDICINA DI INNOVAZIONE
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
2022-01-01 Lassandro, Giuseppe; Palladino, Valentina; Faleschini, Michela; Barone, Angelica; Boscarol, Gianluca; Cesaro, Simone; Chiocca, Elena; Farruggia, Piero; Giona, Fiorina; Gorio, Chiara; Maggio, Angela; Marinoni, Maddalena; Marzollo, Antonio; Palumbo, Giuseppe; Russo, Giovanna; Saracco, Paola; Spinelli, Marco; Verzegnassi, Federico; Morga, Francesca; Savoia, Anna; Giordano, Paola
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome
1999-01-01 Iolascon, A; Faienza, Mf; Centra, M; Storelli, S; Zelante, L; Savoia, A
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR)
1998-01-01 Strippoli, P; Savoia, A.; Iolascon, A; Tonelli, R; Savino, M; Giordano, P; D'Avanzo, M; Massolo, F; Locatelli, F; Borgna, C; DE MATTIA, D; Zelante, L; Paolucci, G; Bagnara, Gb
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect
2010-01-01 Vettore, S.; DE ROCCO, Daniela; Gerber, B.; Scandellari, R.; Bianco, ANNA MONICA ROSARIA; Balduini, C. L.; Pecci, A.; Fabris, F.; Savoia, Anna
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype
2000-01-01 Zelante, L; Gasparini, P; Savoia, A.; Lomuto, M; Pellicano, R
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene
2018-01-01 Noris, Patrizia; Marconi, Caterina; DE ROCCO, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici
2015-01-01 Seri, Marco; Savoia, Anna; Perrotta, Silverio; Pecci, Alessandro; Marconi, Caterina; Gnan, Chiara; Noris, Patrizia; Magini, Pamela; Faleschini, Michela; Pippucci, Tommaso; Balduini, Alessandra; L., Balduini Carlo
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis
2025-01-01 Yousaf, Muhammad Abrar; Scartezzini, Arianna; Colombo, Chiara; Bachetti, Tiziana; Sarto, Elisa; Bella, Daniela Di; Lorenzi, Pamela; Tinazzi, Michele; Fabrizi, Gian Maria; Vattemi, Gaetano; Savoia, Anna
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia
2007-01-01 Borriello, A; Locasciulli, A; Bianco, Am; Criscuolo, M; Conti, V; Grammatico, P; Cappellacci, S; Zatterale, A; Morgese, F; Cucciolla, V; Delia, D; DELLA RAGIONE, F; Savoia, Anna
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
2021-01-01 Barozzi, Serena; Bozzi, Valeria; De Rocco, Daniela; Giangregorio, Tania; Noris, Patrizia; Savoia, Anna; Pecci, Alessandro
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure
2023-01-01 Ammeti, Daniele; Marzollo, Antonio; Gabelli, Maria; Zanchetta, Melania Eva; Tretti‐parenzan, Caterina; Bottega, Roberta; Capaci, Valeria; Biffi, Alessandra; Savoia, Anna; Bresolin, Silvia; Faleschini, Michela
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
2023-01-01 Persico, Ilaria; Fontana, Giorgia; Faleschini, Michela; Zanchetta, Melania Eva; Ammeti, Daniele; Cappelli, Enrico; Corsolini, Fabio; Mosa, Clara; Guarina, Angela; Bogliolo, Massimo; Surrallés, Jordi; Dufour, Carlo; Farruggia, Piero; Savoia, Anna; Bottega, Roberta
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome
2015-01-01 Hauschner, Hagit; Mor Cohen, Ronit; Messineo, Stefania; Mansour, Wissam; Seligsohn, Uri; Savoia, Anna; Rosenberg, Nurit
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin
2009-01-01 Savoia, Anna; Noris, P; Perrotta, S; Punzo, F; DE ROCCO, Daniela; Oostra, Ba; Balduini, Cl
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients
2014-01-01 Faleschini, M.; Marconi, C.; Bottega, R.; Pipucci, T.; Baj, G.; Noris, P.; Pecci, A.; Balduini, C. L.; Seri, M.; Savoia, A.
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia
2018-01-01 Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization
2015-01-01 Bottega, Roberta; Marconi, Caterina; Faleschini, Michela; Baj, Gabriele; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; Balduini, Carlo L.; Seri, Marco; Savoia, Anna; Noris, Patrizia
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype
2024-01-01 Zanchetta, Melania Eva; Barozzi, Serena; Isidori, Federica; Marconi, Caterina; Farinasso, Loredana; Bottega, Roberta; Savoia, Anna; Pecci, Alessandro; Faleschini, Michela
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome
2012-01-01 Pecci, A.; Biino, G.; Fierro, T.; Bozzi, V.; Mezzasoma, A.; Noris, P.; Ramenghi, U.; Loffredo, G.; Fabris, F.; Momi, S.; Magrini, U.; Pirastu, M.; Savoia, Anna; Balduini, C.; Gresele, P.; Italian Registry for MYH9 releated, Diseases
Amplification of DNA from epithelial cells in urine
1989-01-01 Gasparini, P; Savoia, A.; Pignatti, Pf; Dallapiccola, B; Novelli, G
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP) | 1-gen-2022 | Lassandro, Giuseppe; Palladino, Valentina; Faleschini, Michela; Barone, Angelica; Boscarol, Gianluca; Cesaro, Simone; Chiocca, Elena; Farruggia, Piero; Giona, Fiorina; Gorio, Chiara; Maggio, Angela; Marinoni, Maddalena; Marzollo, Antonio; Palumbo, Giuseppe; Russo, Giovanna; Saracco, Paola; Spinelli, Marco; Verzegnassi, Federico; Morga, Francesca; Savoia, Anna; Giordano, Paola | |
| (TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome | 1-gen-1999 | Iolascon, A; Faienza, Mf; Centra, M; Storelli, S; Zelante, L; Savoia, A | |
| . Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) | 1-gen-1998 | Strippoli, P; Savoia, A.; Iolascon, A; Tonelli, R; Savino, M; Giordano, P; D'Avanzo, M; Massolo, F; Locatelli, F; Borgna, C; DE MATTIA, D; Zelante, L; Paolucci, G; Bagnara, Gb | |
| A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect | 1-gen-2010 | Vettore, S.; DE ROCCO, Daniela; Gerber, B.; Scandellari, R.; Bianco, ANNA MONICA ROSARIA; Balduini, C. L.; Pecci, A.; Fabris, F.; Savoia, Anna | |
| A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype | 1-gen-2000 | Zelante, L; Gasparini, P; Savoia, A.; Lomuto, M; Pellicano, R | |
| A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene | 1-gen-2018 | Noris, Patrizia; Marconi, Caterina; DE ROCCO, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna | |
| A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici | 1-gen-2015 | Seri, Marco; Savoia, Anna; Perrotta, Silverio; Pecci, Alessandro; Marconi, Caterina; Gnan, Chiara; Noris, Patrizia; Magini, Pamela; Faleschini, Michela; Pippucci, Tommaso; Balduini, Alessandra; L., Balduini Carlo | |
| A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis | 1-gen-2025 | Yousaf, Muhammad Abrar; Scartezzini, Arianna; Colombo, Chiara; Bachetti, Tiziana; Sarto, Elisa; Bella, Daniela Di; Lorenzi, Pamela; Tinazzi, Michele; Fabrizi, Gian Maria; Vattemi, Gaetano; Savoia, Anna | |
| A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia | 1-gen-2007 | Borriello, A; Locasciulli, A; Bianco, Am; Criscuolo, M; Conti, V; Grammatico, P; Cappellacci, S; Zatterale, A; Morgese, F; Cucciolla, V; Delia, D; DELLA RAGIONE, F; Savoia, Anna | |
| A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly | 1-gen-2021 | Barozzi, Serena; Bozzi, Valeria; De Rocco, Daniela; Giangregorio, Tania; Noris, Patrizia; Savoia, Anna; Pecci, Alessandro | |
| A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure | 1-gen-2023 | Ammeti, Daniele; Marzollo, Antonio; Gabelli, Maria; Zanchetta, Melania Eva; Tretti‐parenzan, Caterina; Bottega, Roberta; Capaci, Valeria; Biffi, Alessandra; Savoia, Anna; Bresolin, Silvia; Faleschini, Michela | |
| A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation | 1-gen-2023 | Persico, Ilaria; Fontana, Giorgia; Faleschini, Michela; Zanchetta, Melania Eva; Ammeti, Daniele; Cappelli, Enrico; Corsolini, Fabio; Mosa, Clara; Guarina, Angela; Bogliolo, Massimo; Surrallés, Jordi; Dufour, Carlo; Farruggia, Piero; Savoia, Anna; Bottega, Roberta | |
| Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome | 1-gen-2015 | Hauschner, Hagit; Mor Cohen, Ronit; Messineo, Stefania; Mansour, Wissam; Seligsohn, Uri; Savoia, Anna; Rosenberg, Nurit | |
| Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin | 1-gen-2009 | Savoia, Anna; Noris, P; Perrotta, S; Punzo, F; DE ROCCO, Daniela; Oostra, Ba; Balduini, Cl | |
| ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients | 1-gen-2014 | Faleschini, M.; Marconi, C.; Bottega, R.; Pipucci, T.; Baj, G.; Noris, P.; Pecci, A.; Balduini, C. L.; Seri, M.; Savoia, A. | |
| ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia | 1-gen-2018 | Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia | |
| ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization | 1-gen-2015 | Bottega, Roberta; Marconi, Caterina; Faleschini, Michela; Baj, Gabriele; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; Balduini, Carlo L.; Seri, Marco; Savoia, Anna; Noris, Patrizia | |
| ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype | 1-gen-2024 | Zanchetta, Melania Eva; Barozzi, Serena; Isidori, Federica; Marconi, Caterina; Farinasso, Loredana; Bottega, Roberta; Savoia, Anna; Pecci, Alessandro; Faleschini, Michela | |
| Alteration of liver enzymes is a feature of the MYH9-related disease syndrome | 1-gen-2012 | Pecci, A.; Biino, G.; Fierro, T.; Bozzi, V.; Mezzasoma, A.; Noris, P.; Ramenghi, U.; Loffredo, G.; Fabris, F.; Momi, S.; Magrini, U.; Pirastu, M.; Savoia, Anna; Balduini, C.; Gresele, P.; Italian Registry for MYH9 releated, Diseases | |
| Amplification of DNA from epithelial cells in urine | 1-gen-1989 | Gasparini, P; Savoia, A.; Pignatti, Pf; Dallapiccola, B; Novelli, G |