Sfoglia per Autore
Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses
2015 Castori, M; Servadei, F; Laino, Luigi; Pascolini, Giulia; Fabbri, R; Cifani, Ae; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola; NIEVES FABBRI, RICARDO JOSÉ
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients
2017 Margiotti, K; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; DI BONAVENTURA, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; DE LUCA, Alessandro
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
2018 Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina
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
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
2020 Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P.
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication
2020 Pascolini, G.; Agolini, E.; Fleischer, N.; Pierantoni, R.; Loddo, S.; Novelli, A.; Bernardini, L.; Majore, S.; Grammatico, P.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
2020 Breen, M. S.; Garg, P.; Tang, L.; Mendonca, D.; Levy, T.; Barbosa, M.; Arnett, A. B.; Kurtz-Nelson, E.; Agolini, E.; Battaglia, A.; Chiocchetti, A. G.; Freitag, C. M.; Garcia-Alcon, A.; Grammatico, P.; Hertz-Picciotto, I.; Ludena-Rodriguez, Y.; Moreno, C.; Novelli, A.; Parellada, M.; Pascolini, G.; Tassone, F.; Grice, D. E.; Di Marino, D.; Bernier, R. A.; Kolevzon, A.; Sharp, A. J.; Buxbaum, J. D.; Siper, P. M.; De Rubeis, S.
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations
2020 Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'Elia, G.; Novelli, A.; Majore, S.; Grammatico, P.
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype
2020 Pascolini, G.; Agolini, E.; Novelli, A.; Majore, S.; Grammatico, P.
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
2022 Pascolini, G.; Passarelli, C.; Lipari, M.; Chandramouli, B.; Chillemi, G.; Di Giosaffatte, N.; Novelli, A.; Grammatico, P.
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance
2022 Pascolini, G; Gnazzo, M; Novvelli, A; Grammatico, P
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses | 2015 | Castori, M; Servadei, F; Laino, Luigi; Pascolini, Giulia; Fabbri, R; Cifani, Ae; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola; NIEVES FABBRI, RICARDO JOSÉ | |
| Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients | 2017 | Margiotti, K; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; DI BONAVENTURA, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; DE LUCA, Alessandro | |
| Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement | 2018 | Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina | |
| 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 | |
| Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion | 2020 | Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P. | |
| Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication | 2020 | Pascolini, G.; Agolini, E.; Fleischer, N.; Pierantoni, R.; Loddo, S.; Novelli, A.; Bernardini, L.; Majore, S.; Grammatico, P. | |
| Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype | 2020 | Breen, M. S.; Garg, P.; Tang, L.; Mendonca, D.; Levy, T.; Barbosa, M.; Arnett, A. B.; Kurtz-Nelson, E.; Agolini, E.; Battaglia, A.; Chiocchetti, A. G.; Freitag, C. M.; Garcia-Alcon, A.; Grammatico, P.; Hertz-Picciotto, I.; Ludena-Rodriguez, Y.; Moreno, C.; Novelli, A.; Parellada, M.; Pascolini, G.; Tassone, F.; Grice, D. E.; Di Marino, D.; Bernier, R. A.; Kolevzon, A.; Sharp, A. J.; Buxbaum, J. D.; Siper, P. M.; De Rubeis, S. | |
| A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations | 2020 | Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'Elia, G.; Novelli, A.; Majore, S.; Grammatico, P. | |
| The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype | 2020 | Pascolini, G.; Agolini, E.; Novelli, A.; Majore, S.; Grammatico, P. | |
| Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB | 2022 | Pascolini, G.; Passarelli, C.; Lipari, M.; Chandramouli, B.; Chillemi, G.; Di Giosaffatte, N.; Novelli, A.; Grammatico, P. | |
| Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance | 2022 | Pascolini, G; Gnazzo, M; Novvelli, A; Grammatico, P |
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