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 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
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
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
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p
1999-01-01 Savoia, Anna; DEL VECCHIO, M; Totaro, A; Perrotta, S; Amendola, G; Moretti, A; Zelante, L; Iolascon, A.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
2014-01-01 Noris, Patrizia; Schlegel, Nicole; Klersy, Catherine; Heller, Paula G; Civaschi, Elisa; Pujol Moix, Nuria; Fabris, Fabrizio; Favier, Remi; Gresele, Paolo; Latger Cannard, Véronique; Cuker, Adam; Nurden, Paquita; Greinacher, Andreas; Cattaneo, Marco; De Candia, Erica; Pecci, Alessandro; Hurtaud Roux, Marie Françoise; Glembotsky, Ana C; Muñiz Diaz, Eduardo; Randi, Maria Luigia; Trillot, Nathalie; Bury, Loredana; Lecompte, Thomas; Marconi, Caterina; Savoia, Anna; Balduini, Carlo L; Bayart, Sophie; Bauters, Anne; Benabdallah Guedira, Schéhérazade; Boehlen, Françoise; Borg, Jeanne Yvonne; Bottega, Roberta; Bussel, James; De Rocco, Daniela; de Maistre, Emmanuel; Faleschini, Michela; Falcinelli, Emanuela; Ferrari, Silvia; Ferster, Alina; Fierro, Tiziana; Fleury, Dominique; Fontana, Pierre; James, Chloé; Lanza, Francois; Le Cam Duchez, Véronique; Loffredo, Giuseppe; Magini, Pamela; Martin Coignard, Dominique; Menard, Fanny; Mercier, Sandra; Mezzasoma, Annamaria; Minuz, Pietro; Nichele, Ilaria; Notarangelo, Lucia D; Pippucci, Tommaso; Podda, Gian Marco; Pouymayou, Catherine; Rigouzzo, Agnes; Royer, Bruno; Sie, Pierre; Siguret, Virginie; Trichet, Catherine; Tucci, Alessandra; Saposnik, Béatrice; Veneri, Dino
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici
2002-01-01 Savoia, A.
ANKRD26-related thrombocytopenia and myeloid malignancies
2013-01-01 P., Noris; R., Favier; M. C., Alessi; A. E., Geddis; S., Kunishima; P. G., Heller; P., Giordano; K. Y., Niederhoffer; J. B., Bussel; G. M., Podda; N., Vianelli; R., Kersseboom; A., Pecci; Gnan, Chiara; C., Marconi; A., Auvrignon; W., Cohen; J. C., Yu; A., Iguchi; A., Miller Imahiyerobo; F., Boehlen; D., Ghalloussi; DE ROCCO, Daniela; P., Magini; E., Civaschi; G., Biino; M., Seri; Savoia, Anna; C. L., Balduini
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule
2013-01-01 P., Gresele; DE ROCCO, Daniela; L., Bury; T., Fierro; A. M., Mezzasoma; A., Pecci; Savoia, Anna
| 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 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 | |
| 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 | |
| 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 | |
| An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p | 1-gen-1999 | Savoia, Anna; DEL VECCHIO, M; Totaro, A; Perrotta, S; Amendola, G; Moretti, A; Zelante, L; Iolascon, A. | |
| Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia | 1-gen-2014 | Noris, Patrizia; Schlegel, Nicole; Klersy, Catherine; Heller, Paula G; Civaschi, Elisa; Pujol Moix, Nuria; Fabris, Fabrizio; Favier, Remi; Gresele, Paolo; Latger Cannard, Véronique; Cuker, Adam; Nurden, Paquita; Greinacher, Andreas; Cattaneo, Marco; De Candia, Erica; Pecci, Alessandro; Hurtaud Roux, Marie Françoise; Glembotsky, Ana C; Muñiz Diaz, Eduardo; Randi, Maria Luigia; Trillot, Nathalie; Bury, Loredana; Lecompte, Thomas; Marconi, Caterina; Savoia, Anna; Balduini, Carlo L; Bayart, Sophie; Bauters, Anne; Benabdallah Guedira, Schéhérazade; Boehlen, Françoise; Borg, Jeanne Yvonne; Bottega, Roberta; Bussel, James; De Rocco, Daniela; de Maistre, Emmanuel; Faleschini, Michela; Falcinelli, Emanuela; Ferrari, Silvia; Ferster, Alina; Fierro, Tiziana; Fleury, Dominique; Fontana, Pierre; James, Chloé; Lanza, Francois; Le Cam Duchez, Véronique; Loffredo, Giuseppe; Magini, Pamela; Martin Coignard, Dominique; Menard, Fanny; Mercier, Sandra; Mezzasoma, Annamaria; Minuz, Pietro; Nichele, Ilaria; Notarangelo, Lucia D; Pippucci, Tommaso; Podda, Gian Marco; Pouymayou, Catherine; Rigouzzo, Agnes; Royer, Bruno; Sie, Pierre; Siguret, Virginie; Trichet, Catherine; Tucci, Alessandra; Saposnik, Béatrice; Veneri, Dino | |
| Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici | 1-gen-2002 | Savoia, A. | |
| ANKRD26-related thrombocytopenia and myeloid malignancies | 1-gen-2013 | P., Noris; R., Favier; M. C., Alessi; A. E., Geddis; S., Kunishima; P. G., Heller; P., Giordano; K. Y., Niederhoffer; J. B., Bussel; G. M., Podda; N., Vianelli; R., Kersseboom; A., Pecci; Gnan, Chiara; C., Marconi; A., Auvrignon; W., Cohen; J. C., Yu; A., Iguchi; A., Miller Imahiyerobo; F., Boehlen; D., Ghalloussi; DE ROCCO, Daniela; P., Magini; E., Civaschi; G., Biino; M., Seri; Savoia, Anna; C. L., Balduini | |
| Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule | 1-gen-2013 | P., Gresele; DE ROCCO, Daniela; L., Bury; T., Fierro; A. M., Mezzasoma; A., Pecci; Savoia, Anna |