PAPA, FILOMENA TIZIANA
PAPA, FILOMENA TIZIANA
13q deletion syndrome involving rb1: Characterization of a new minimal critical region for psychomotor delay
2021-01-01 Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F.
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.
2021-01-01 Privitera, F; Calonaci, A; Doddato, G; Papa, Ft; Baldassarri, M; Pinto, Am; Mari, F; Longo, I; Caini, M; Galimberti, D; Hadjistilianou, T; De Francesco, S; Renieri, A; Ariani, F
14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
2009-01-01 Mencarelli, Ma; Kleefstra, T; Katzaki, E; Papa, Ft; Cohen, M; Pfundt, R; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra; Papa, FILOMENA TIZIANA
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears
2007-01-01 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F.
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
2008-01-01 Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A.
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
2009-01-01 Pollazzon, M.; Grosso, S.; Papa, F. T.; Katzaki, E.; Marozza, A.; Mencarelli, M. A.; Uliana, V.; Balestri, P.; Mari, F.; Renieri, A.
AAV-mediated FOXG1 gene editing in human Rett primary cells
2020-01-01 Croci, S.; Carriero, M. L.; Capitani, K.; Daga, S.; Donati, F.; Papa, F. T.; Frullanti, E.; Lopergolo, D.; Lamacchia, V.; Tita, R.; Giliberti, A.; Benetti, E.; Niccheri, F.; Furini, S.; Lo Rizzo, C.; Conticello, S. G.; Renieri, A.; Meloni, I.
Analysis of the Phenotypes in the Rett Networked Database
2019-01-01 Frullanti, Elisa; Papa, Filomena T; Grillo, Elisa; Clarke, Angus; Ben-Zeev, Bruria; Pineda, Mercedes; Bahi-Buisson, Nadia; Bienvenu, Thierry; Armstrong, Judith; Roche Martinez, Ana; Mari, Francesca; Nissenkorn, Andreea; Lo Rizzo, Caterina; Veneselli, Edvige; Russo, Silvia; Vignoli, Aglaia; Pini, Giorgio; Djuric, Milena; Bisgaard, Anne-Marie; Ravn, Kirstine; Bosnjak, Vlatka Mejaski; Hayek, Joussef; Khajuria, Rajni; Montomoli, Barbara; Cogliati, Francesca; Pintaudi, Maria; Hadzsiev, KINGA FELICIA; Craiu, Dana; Voinova, Victoria; Djukic, Aleksandra; Villard, Laurent; Renieri, Alessandra
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
2009-01-01 Sampieri, K; Amenduni, M; Papa, Ft; Katzaki, E; Mencarelli, Ma; Marozza, A; Epistolato, Mc; Toti, Paolo; Lazzi, Stefano; Bruttini, M; De Filippis, R; DE FRANCESCO, Sonia; Longo, I; Meloni, Ilaria; Mari, Francesca; Acquaviva, Antonio; Hadjistilianou, Theodora; Renieri, Alessandra; Ariani, Francesca; Papa, FILOMENA TIZIANA
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
2011-01-01 Frezzotti, Paolo; Pescucci, C; Papa, Ft; Iester, M; Mittica, Vincenzo; Motolese, I; Peruzzi, S; Artuso, R; Longo, I; Mencarelli, Ma; Mittica, P; Motolese, Eduardo; Renieri, Alessandra; Papa, FILOMENA TIZIANA
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
2007-01-01 Katzaki, E; Pescucci, C; Uliana, V; Papa, Ft; Ariani, Francesca; Meloni, I; Priolo, M; Selicorni, A; Milani, D; Fischetto, R; Celle, Me; Grasso, R; Dallapiccola, B; Brancati, F; Bordignon, M; Tenconi, R; Federico, Antonio; Mari, Francesca; Renieri, Alessandra; Longo, I.; Papa, FILOMENA TIZIANA
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)
2021-01-01 Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F.
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
2008-01-01 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Ariani, Francesca; Longo, I.; Meloni, I.; Vonella, G.; Acampa, M.; Auteri, A.; Vicari, S.; Orsi, A.; Hayek, G.; Renieri, A.; Mari, Francesca; Papa, FILOMENA TIZIANA
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
2021-01-01 Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.
2008-01-01 Uliana, V; Giordano, NICOLA GIUSEPPE; Caselli, R; Papa, Ft; Ariani, Francesca; Marcocci, C; Gianetti, E; Martini, Giuseppe; Papakostas, P; Rollo, F; Meloni, I; Mari, Francesca; Priolo, M; Renieri, Alessandra; Nuti, Ranuccio; Papa, FILOMENA TIZIANA
Investigation of modifier genes within copy number variations in Rett syndrome.
2011-01-01 Artuso, R; Papa, Ft; Grillo, E; Mucciolo, M; Yasui, Dh; Dunaway, Kw; Disciglio, Vittoria; Mencarelli, Ma; Pollazzon, M; Zappella, M; Hayek, G; Mari, Francesca; Renieri, Alessandra; Lasalle, Jm; Ariani, Francesca; Papa, FILOMENA TIZIANA
Is HSD17B1 a new sex reversal gene in human?
2009-01-01 Katzaki, E.; Papa, F. T.; Mucciolo, M.; Uliana, V.; Renieri, Alessandra; Papa, FILOMENA TIZIANA
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia
2019-01-01 Pinto, Anna Maria; Papa, Filomena T; Frullanti, Elisa; Meloni, Ilaria; Tita, Rossella; Caselli, Rossella; Fallerini, Chiara; Lopergolo, Diego; Cetta, Francesco; Mencarelli, Maria Antonietta; Bocchia, Monica; Gozzetti, Alessandro; Renieri, Alessandra
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype
2020-01-01 Giliberti, Annarita; Curro', Aurora; Papa, F. T.; Frullanti, Elisa; Ariani, F.; Coriolani, G.; Grosso, S.; Renieri, A.; Mari, F.
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy
2018-01-01 Papa, FILOMENA TIZIANA; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| 13q deletion syndrome involving rb1: Characterization of a new minimal critical region for psychomotor delay | 1-gen-2021 | Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F. | - | |
| 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay. | 1-gen-2021 | Privitera, F; Calonaci, A; Doddato, G; Papa, Ft; Baldassarri, M; Pinto, Am; Mari, F; Longo, I; Caini, M; Galimberti, D; Hadjistilianou, T; De Francesco, S; Renieri, A; Ariani, F | - | |
| 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. | 1-gen-2009 | Mencarelli, Ma; Kleefstra, T; Katzaki, E; Papa, Ft; Cohen, M; Pfundt, R; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra; Papa, FILOMENA TIZIANA | - | |
| A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears | 1-gen-2007 | Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F. | - | |
| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features | 1-gen-2008 | Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A. | - | |
| A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb | 1-gen-2009 | Pollazzon, M.; Grosso, S.; Papa, F. T.; Katzaki, E.; Marozza, A.; Mencarelli, M. A.; Uliana, V.; Balestri, P.; Mari, F.; Renieri, A. | - | |
| AAV-mediated FOXG1 gene editing in human Rett primary cells | 1-gen-2020 | Croci, S.; Carriero, M. L.; Capitani, K.; Daga, S.; Donati, F.; Papa, F. T.; Frullanti, E.; Lopergolo, D.; Lamacchia, V.; Tita, R.; Giliberti, A.; Benetti, E.; Niccheri, F.; Furini, S.; Lo Rizzo, C.; Conticello, S. G.; Renieri, A.; Meloni, I. | - | |
| Analysis of the Phenotypes in the Rett Networked Database | 1-gen-2019 | Frullanti, Elisa; Papa, Filomena T; Grillo, Elisa; Clarke, Angus; Ben-Zeev, Bruria; Pineda, Mercedes; Bahi-Buisson, Nadia; Bienvenu, Thierry; Armstrong, Judith; Roche Martinez, Ana; Mari, Francesca; Nissenkorn, Andreea; Lo Rizzo, Caterina; Veneselli, Edvige; Russo, Silvia; Vignoli, Aglaia; Pini, Giorgio; Djuric, Milena; Bisgaard, Anne-Marie; Ravn, Kirstine; Bosnjak, Vlatka Mejaski; Hayek, Joussef; Khajuria, Rajni; Montomoli, Barbara; Cogliati, Francesca; Pintaudi, Maria; Hadzsiev, KINGA FELICIA; Craiu, Dana; Voinova, Victoria; Djukic, Aleksandra; Villard, Laurent; Renieri, Alessandra | - | |
| Array comparative genomic hybridization in retinoma and retinoblastoma tissues. | 1-gen-2009 | Sampieri, K; Amenduni, M; Papa, Ft; Katzaki, E; Mencarelli, Ma; Marozza, A; Epistolato, Mc; Toti, Paolo; Lazzi, Stefano; Bruttini, M; De Filippis, R; DE FRANCESCO, Sonia; Longo, I; Meloni, Ilaria; Mari, Francesca; Acquaviva, Antonio; Hadjistilianou, Theodora; Renieri, Alessandra; Ariani, Francesca; Papa, FILOMENA TIZIANA | - | |
| Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. | 1-gen-2011 | Frezzotti, Paolo; Pescucci, C; Papa, Ft; Iester, M; Mittica, Vincenzo; Motolese, I; Peruzzi, S; Artuso, R; Longo, I; Mencarelli, Ma; Mittica, P; Motolese, Eduardo; Renieri, Alessandra; Papa, FILOMENA TIZIANA | - | |
| Clinical and molecular characterization of Italian patients affected by Cohen syndrome. | 1-gen-2007 | Katzaki, E; Pescucci, C; Uliana, V; Papa, Ft; Ariani, Francesca; Meloni, I; Priolo, M; Selicorni, A; Milani, D; Fischetto, R; Celle, Me; Grasso, R; Dallapiccola, B; Brancati, F; Bordignon, M; Tenconi, R; Federico, Antonio; Mari, Francesca; Renieri, Alessandra; Longo, I.; Papa, FILOMENA TIZIANA | - | |
| Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) | 1-gen-2021 | Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F. | - | |
| Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. | 1-gen-2008 | Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Ariani, Francesca; Longo, I.; Meloni, I.; Vonella, G.; Acampa, M.; Auteri, A.; Vicari, S.; Orsi, A.; Hayek, G.; Renieri, A.; Mari, Francesca; Papa, FILOMENA TIZIANA | - | |
| Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. | 1-gen-2021 | Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F | - | |
| Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. | 1-gen-2008 | Uliana, V; Giordano, NICOLA GIUSEPPE; Caselli, R; Papa, Ft; Ariani, Francesca; Marcocci, C; Gianetti, E; Martini, Giuseppe; Papakostas, P; Rollo, F; Meloni, I; Mari, Francesca; Priolo, M; Renieri, Alessandra; Nuti, Ranuccio; Papa, FILOMENA TIZIANA | - | |
| Investigation of modifier genes within copy number variations in Rett syndrome. | 1-gen-2011 | Artuso, R; Papa, Ft; Grillo, E; Mucciolo, M; Yasui, Dh; Dunaway, Kw; Disciglio, Vittoria; Mencarelli, Ma; Pollazzon, M; Zappella, M; Hayek, G; Mari, Francesca; Renieri, Alessandra; Lasalle, Jm; Ariani, Francesca; Papa, FILOMENA TIZIANA | - | |
| Is HSD17B1 a new sex reversal gene in human? | 1-gen-2009 | Katzaki, E.; Papa, F. T.; Mucciolo, M.; Uliana, V.; Renieri, Alessandra; Papa, FILOMENA TIZIANA | - | |
| Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia | 1-gen-2019 | Pinto, Anna Maria; Papa, Filomena T; Frullanti, Elisa; Meloni, Ilaria; Tita, Rossella; Caselli, Rossella; Fallerini, Chiara; Lopergolo, Diego; Cetta, Francesco; Mencarelli, Maria Antonietta; Bocchia, Monica; Gozzetti, Alessandro; Renieri, Alessandra | - | |
| MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype | 1-gen-2020 | Giliberti, Annarita; Curro', Aurora; Papa, F. T.; Frullanti, Elisa; Ariani, F.; Coriolani, G.; Grosso, S.; Renieri, A.; Mari, F. | - | |
| Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy | 1-gen-2018 | Papa, FILOMENA TIZIANA; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra | - |