Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2022 Mussa, A.; Leoni, C.; Iacoviello, M.; Carli, D.; Ranieri, C.; Pantaleo, A.; Buonuomo, P. S.; Bagnulo, R.; Ferrero, G. B.; Bartuli, A.; Melis, D.; Maitz, S.; Loconte, D. C.; Turchiano, A.; Piglionica, M.; De Luisi, A.; Susca, F. C.; Bukvic, N.; Forleo, C.; Selicorni, A.; Zampino, G.; Onesimo, R.; Cappuccio, G.; Garavelli, L.; Novelli, C.; Memo, L.; Morando, C.; Della Monica, M.; Accadia, M.; Capurso, M.; Piscopo, C.; Cereda, A.; Di Giacomo, M. C.; Saletti, V.; Spinelli, A. M.; Lastella, P.; Tenconi, R.; Dvorakova, V.; Irvine, A. D.; Resta, N.
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding
2021 D'Amico, A.; Perillo, T.; Ugga, L.; Melis, D.; Santoro, C.; Piluso, G.; Cinalli, G.; Russo, C.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
2022 Kerkhof, J.; Squeo, G. M.; Mcconkey, H.; Levy, M. A.; Piemontese, M. R.; Castori, M.; Accadia, M.; Biamino, E.; Della Monica, M.; Di Giacomo, M. C.; Gervasini, C.; Maitz, S.; Melis, D.; Milani, D.; Piccione, M.; Prontera, P.; Selicorni, A.; Sadikovic, B.; Merla, G.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
2021 D'Amico, A.; Rosano, C.; Pannone, L.; Pinna, V.; Assunto, A.; Motta, M.; Ugga, L.; Daniele, P.; Mandile, R.; Mariniello, L.; Siano, M. A.; Santoro, C.; Piluso, G.; Martinelli, S.; Strisciuglio, P.; De Luca, A.; Tartaglia, M.; Melis, D.
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding
2021 D'Amico, A.; Di Stasi, M.; Ugga, L.; Perillo, T.; Santoro, C.; Melis, D.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects
2021 Guida, V.; Sparascio, F. P.; Bernardini, L.; Pancheri, F.; Melis, D.; Cocciadiferro, D.; Pagnoni, M.; Puzzo, M.; Goldoni, M.; Barone, C.; Hozhabri, H.; Putotto, C.; Giuffrida, M. G.; Briuglia, S.; Palumbo, O.; Bianca, S.; Stanzial, F.; Benedicenti, F.; Kariminejad, A.; Forzano, F.; Baghernajad Salehi, L.; Mattina, T.; Brancati, F.; Castori, M.; Carella, M.; Fadda, M. T.; Iannetti, G.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Tartaglia, M.; De Luca, A.
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy
2022 Pepe, A.; Valitutti, F.; Veneruso, D.; Bove, M.; De Anseris, A. G. E.; Nazzaro, L.; Pisano, P.; Melis, D.; Mandato, C.
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome
2021 D'Amico, A.; Cipullo, M. B.; Falco, M.; Ugga, L.; Melis, D.
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1
1998 Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G.
A pilot clinical trial with losartan in Myhre syndrome
2021 Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N.
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients
2022 Resaz, R.; Cangelosi, D.; Segalerba, D.; Morini, M.; Uva, P.; Bosco, M. C.; Banderali, G.; Estrella, A.; Wanner, C.; Weinstein, D. A.; Sechi, A.; Paci, S.; Melis, D.; Di Rocco, M.; Lee, Y. M.; Eva, A.
From Natural Compounds to Bioactive Molecules through NMR and In Silico Methodologies
2020 DE VITA, Simona; Terracciano, Stefania; Bruno, Ines; Giovanna Chini, Maria
Recent Evidence of Tea Tree Oil Effectiveness in Blepharitis Treatment
2022 Capasso, Luigi; Abbinante, Giulia; Coppola, Alessia; Salerno, Giulio; De Bernardo, Maddalena
Letter to the Editor: Glycerin-preserved, Human-donor, Corneoscleral Patch Grafts for Glaucoma Drainage Devices
2021 Capasso, Luigi; Salerno, Giulio; Tortori, Antonia; De Bernardo, Maddalena
Comment on Iida et al. Development of a New Method for Calculating Intraocular Lens Power after Myopic Laser In Situ Keratomileusis by Combining the Anterior-Posterior Ratio of the Corneal Radius of the Curvature with the Double-K Method. J. Clin. Med. 2022, 11, 522
2022 Cione, Ferdinando; De Bernardo, Maddalena; Rosa, Nicola
Comment on: Comparison of different methods to calculate the axial length measured by optical biometry
2022 Cione, Ferdinando; De Bernardo, Maddalena; Rosa, Nicola
Comment on: Evaluation of choroidal thickness in amblyopia using optical coherence tomography
2022 De Bernardo, M; Gioia, M; Capasso, L; Rosa, N
Pediatric ultrasound evaluation of optic disc elevation to detect intracranial hypertension
2022 Vitiello, Livio; Capasso, Luigi; De Bernardo, Maddalena; Rosa, Nicola
Optic Nerve Drusen Evaluation: A Comparison between Ultrasound and OCT
2022 Rosa, Nicola; De Bernardo, Maddalena; Abbinante, Giulia; Vecchio, Gianluca; Cione, Ferdinando; Capasso, Luigi
Il collocamento dell’animale d’affezione nella crisi familiare: dalla “relazione” proprietaria alla responsabilità “padronale”
2022 Garofalo, Giuseppe
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants | 1-gen-2022 | Mussa, A.; Leoni, C.; Iacoviello, M.; Carli, D.; Ranieri, C.; Pantaleo, A.; Buonuomo, P. S.; Bagnulo, R.; Ferrero, G. B.; Bartuli, A.; Melis, D.; Maitz, S.; Loconte, D. C.; Turchiano, A.; Piglionica, M.; De Luisi, A.; Susca, F. C.; Bukvic, N.; Forleo, C.; Selicorni, A.; Zampino, G.; Onesimo, R.; Cappuccio, G.; Garavelli, L.; Novelli, C.; Memo, L.; Morando, C.; Della Monica, M.; Accadia, M.; Capurso, M.; Piscopo, C.; Cereda, A.; Di Giacomo, M. C.; Saletti, V.; Spinelli, A. M.; Lastella, P.; Tenconi, R.; Dvorakova, V.; Irvine, A. D.; Resta, N. | |
| Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding | 1-gen-2021 | D'Amico, A.; Perillo, T.; Ugga, L.; Melis, D.; Santoro, C.; Piluso, G.; Cinalli, G.; Russo, C. | |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies | 1-gen-2022 | Kerkhof, J.; Squeo, G. M.; Mcconkey, H.; Levy, M. A.; Piemontese, M. R.; Castori, M.; Accadia, M.; Biamino, E.; Della Monica, M.; Di Giacomo, M. C.; Gervasini, C.; Maitz, S.; Melis, D.; Milani, D.; Piccione, M.; Prontera, P.; Selicorni, A.; Sadikovic, B.; Merla, G. | |
| Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings | 1-gen-2021 | D'Amico, A.; Rosano, C.; Pannone, L.; Pinna, V.; Assunto, A.; Motta, M.; Ugga, L.; Daniele, P.; Mandile, R.; Mariniello, L.; Siano, M. A.; Santoro, C.; Piluso, G.; Martinelli, S.; Strisciuglio, P.; De Luca, A.; Tartaglia, M.; Melis, D. | |
| Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding | 1-gen-2021 | D'Amico, A.; Di Stasi, M.; Ugga, L.; Perillo, T.; Santoro, C.; Melis, D. | |
| Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects | 1-gen-2021 | Guida, V.; Sparascio, F. P.; Bernardini, L.; Pancheri, F.; Melis, D.; Cocciadiferro, D.; Pagnoni, M.; Puzzo, M.; Goldoni, M.; Barone, C.; Hozhabri, H.; Putotto, C.; Giuffrida, M. G.; Briuglia, S.; Palumbo, O.; Bianca, S.; Stanzial, F.; Benedicenti, F.; Kariminejad, A.; Forzano, F.; Baghernajad Salehi, L.; Mattina, T.; Brancati, F.; Castori, M.; Carella, M.; Fadda, M. T.; Iannetti, G.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Tartaglia, M.; De Luca, A. | |
| Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy | 1-gen-2022 | Pepe, A.; Valitutti, F.; Veneruso, D.; Bove, M.; De Anseris, A. G. E.; Nazzaro, L.; Pisano, P.; Melis, D.; Mandato, C. | |
| Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome | 1-gen-2021 | D'Amico, A.; Cipullo, M. B.; Falco, M.; Ugga, L.; Melis, D. | |
| Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 | 1-gen-1998 | Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G. | |
| A pilot clinical trial with losartan in Myhre syndrome | 1-gen-2021 | Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N. | |
| Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients | 1-gen-2022 | Resaz, R.; Cangelosi, D.; Segalerba, D.; Morini, M.; Uva, P.; Bosco, M. C.; Banderali, G.; Estrella, A.; Wanner, C.; Weinstein, D. A.; Sechi, A.; Paci, S.; Melis, D.; Di Rocco, M.; Lee, Y. M.; Eva, A. | |
| From Natural Compounds to Bioactive Molecules through NMR and In Silico Methodologies | 1-gen-2020 | DE VITA, Simona; Terracciano, Stefania; Bruno, Ines; Giovanna Chini, Maria | |
| Recent Evidence of Tea Tree Oil Effectiveness in Blepharitis Treatment | 1-gen-2022 | Capasso, Luigi; Abbinante, Giulia; Coppola, Alessia; Salerno, Giulio; De Bernardo, Maddalena | |
| Letter to the Editor: Glycerin-preserved, Human-donor, Corneoscleral Patch Grafts for Glaucoma Drainage Devices | 1-gen-2021 | Capasso, Luigi; Salerno, Giulio; Tortori, Antonia; De Bernardo, Maddalena | |
| Comment on Iida et al. Development of a New Method for Calculating Intraocular Lens Power after Myopic Laser In Situ Keratomileusis by Combining the Anterior-Posterior Ratio of the Corneal Radius of the Curvature with the Double-K Method. J. Clin. Med. 2022, 11, 522 | 1-gen-2022 | Cione, Ferdinando; De Bernardo, Maddalena; Rosa, Nicola | |
| Comment on: Comparison of different methods to calculate the axial length measured by optical biometry | 1-gen-2022 | Cione, Ferdinando; De Bernardo, Maddalena; Rosa, Nicola | |
| Comment on: Evaluation of choroidal thickness in amblyopia using optical coherence tomography | 1-gen-2022 | De Bernardo, M; Gioia, M; Capasso, L; Rosa, N | |
| Pediatric ultrasound evaluation of optic disc elevation to detect intracranial hypertension | 1-gen-2022 | Vitiello, Livio; Capasso, Luigi; De Bernardo, Maddalena; Rosa, Nicola | |
| Optic Nerve Drusen Evaluation: A Comparison between Ultrasound and OCT | 1-gen-2022 | Rosa, Nicola; De Bernardo, Maddalena; Abbinante, Giulia; Vecchio, Gianluca; Cione, Ferdinando; Capasso, Luigi | |
| Il collocamento dell’animale d’affezione nella crisi familiare: dalla “relazione” proprietaria alla responsabilità “padronale” | 1-gen-2022 | Garofalo, Giuseppe |
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