VALIANTE, MICHELE
VALIANTE, MICHELE
DIPARTIMENTO DI BIOTECNOLOGIE CELLULARI ED EMATOLOGIA (attivo dal 01/01/1900 al 01/11/2018)
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome
2020 Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
2022 Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
2019 Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis
2018 Majore, Silvia; Bonaccorsi di Patti, Maria Carmela; Valiante, Michele; Polticelli, Fabio; Cortese, Andrea; DI BARTOLOMEO, Sabrina; De Bernardo, Carmelilia; De Muro, Marianna; Faienza, Fiorella; Radio, Francesca Clementina; Grammatico, Paola; Musci, Giovanni
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review
2013 Castori, Marco; Valiante, Michele; Giulia, Pascolini; Leuzzi, Vincenzo; Pizzuti, Antonio; Grammatico, Paola
Familial melanoma and multiple primary melanoma
2017 De Simone, Paola; Valiante, Michele; Silipo, Vitaliano
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
2023 Colombo, Elisa Adele; Valiante, Michele; Uggeri, Matteo; Orro, Alessandro; Majore, Silvia; Grammatico, Paola; Gentilini, Davide; Finelli, Palma; Gervasini, Cristina; D'Ursi, Pasqualina; Larizza, Lidia
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
2015 Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
2023 Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome | 2020 | Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola | |
| A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report | 2022 | Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola | |
| Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene | 2019 | Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola | |
| Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis | 2018 | Majore, Silvia; Bonaccorsi di Patti, Maria Carmela; Valiante, Michele; Polticelli, Fabio; Cortese, Andrea; DI BARTOLOMEO, Sabrina; De Bernardo, Carmelilia; De Muro, Marianna; Faienza, Fiorella; Radio, Francesca Clementina; Grammatico, Paola; Musci, Giovanni | |
| Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review | 2013 | Castori, Marco; Valiante, Michele; Giulia, Pascolini; Leuzzi, Vincenzo; Pizzuti, Antonio; Grammatico, Paola | |
| Familial melanoma and multiple primary melanoma | 2017 | De Simone, Paola; Valiante, Michele; Silipo, Vitaliano | |
| Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling | 2023 | Colombo, Elisa Adele; Valiante, Michele; Uggeri, Matteo; Orro, Alessandro; Majore, Silvia; Grammatico, Paola; Gentilini, Davide; Finelli, Palma; Gervasini, Cristina; D'Ursi, Pasqualina; Larizza, Lidia | |
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. | 2015 | Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M. | |
| Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? | 2023 | Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola |