Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
2020-01-01 Sapuppo, A.; Pavone, P.; Pratico, A. D.; Ruggieri, M.; Bertino, G.; Fiumara, A.
Introduction to phacomatoses (neurocutaneous disorders) in childhood
2020-01-01 Ruggieri, M.; Polizzi, A.; Marceca, G. P.; Catanzaro, S.; Pratico, A. D.; Di Rocco, C.
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)
2018-01-01 Sullo, Federica; Praticò, Andrea D.; Polizzi, Agata; Catanzaro, Stefano; Mantegna, Selene; Lacarrubba, Francesco; Micali, Giuseppe; Fiumara, Agata; Smilari, Pierluigi; Greco, Filippo; Schepis, Carmelo; Pirrone, Concetta; Zanghì, Antonino; Pascual-Castroviejo, Ignacio; Ruggieri, Martino
Neurocutaneous syndromes in art and antiquities
2021-01-01 Ruggieri, Martino; Gentile, Amalia Egle; Ferrara, Vincenza; Papi, Massimo; Praticò, Andrea D.; Mudry, Albert; Taruscio, Domenica; Micali, Giuseppe; Polizzi, Agata
Holoprosencephaly and Recurrent Episodes of Severe Neurogenic Hypernatremia
2016-01-01 Pavone, P; Praticò, A; Ruggieri, Martino; Rizzo, Renata; Falsaperla, R.
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? J pediatric neonatal individualized medicine
2018-01-01 Pavone, P; Praticò, Ad; Falsaperla, R; Striano, P; Ruggieri, M
Psychological impact of neovagina creation and uterus transplantation in the patients affected from Mayer–Rokitanski–Kuster–Hauser syndrome: A narrative review
2024-01-01 Pecorino, Basilio; Scibilia, Giuseppe; Ferrara, Martina; Veroux, Pierfrancesco; Mereu, Liliana; Serretti, Alessandro; Scollo, Paolo
Predictive Artificial Intelligence Models for Energy Efficiency in Hybrid and Electric Vehicles: Analysis for Enna, Sicily
2024-01-01 Mądziel, Maksymilian; Campisi, Tiziana
SCN1B gene: A close relative to SCN1A
2021-01-01 Pasquetti, E.; Bianco, M. L.; Sullo, F.; Patane, F.; Sciuto, L.; Polizzi, A.; Pratico, A. D.; Zanghi, A.; Falsaperla, R.
The spectrum of KCNQ2- And KCNQ3-related epilepsy
2021-01-01 Portale, A.; Comella, M.; Salomone, G.; Di Nora, A.; Marino, L.; Leonardi, R.; Pratico, A. D.; Falsaperla, R.
Did Cro-Magnon 1 have neurofibromatosis type 2?
2018-01-01 Ruggieri, M; Praticò, Ad; Catanzaro, Stefano; Palmucci, S; Polizzi, A
Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes
2018-01-01 Ruggieri, Martino; Praticò, Andrea D.; Caltabiano, Rosario; Polizzi, Agata Rita Maria
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)
2018-01-01 Ranieri, C.; DI TOMMASO, SIMONA CRISTINA CHIARA; Loconte, D. C.; Grossi, V.; Sanese, P.; Bagnulo, R.; Susca, F. C.; Forte, G.; Peserico, A.; De Luisi, A.; Bartuli, A.; Selicorni, A.; Melis, D.; Lerone, M.; Praticò, A. D.; Abbadessa, G.; Yu, Y.; Schwartz, B.; Ruggieri, Martino; Simone, Cristiano; Resta, Nicoletta
Hypomelanosis of Ito
2018-01-01 Praticò, Andrea D.; Sullo, Federica; Polizzi, Agata; Battaglini, Chiara Maria; Schepis, Carmelo; Pirrone, Concetta; Lacarrubba, Francesco; Micali, Giuseppe; Dinotta, Franco; Savasta, Salvatore; Commodari, Elena; Salafia, STEFANIA FRANCESCA; Zanghì, Antonino; Pascual-Castroviejo, Ignacio; Ruggieri, Martino
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy
2020-01-01 Pavone, P.; Ruggieri, M.; Marino, S. D.; Corsello, G.; Pappalardo, X.; Polizzi, A.; Parano, E.; Romano, C.; Marino, S.; Pratico, A. D.; Falsaperla, R.
A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review
2016-01-01 Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M.
Ketogenic diet for infants with epilepsy: A literature review
2020-01-01 Falsaperla, R.; D'Angelo, G.; Pratico, A. D.; Mauceri, L.; Barbagallo, M.; Pavone, P.; Catanzaro, S.; Gitto, E.; Corsello, G.; Ruggieri, M.
Ataxia in children: early recognition and clinical evaluation
2017-01-01 Pavone, P; Praticò, Ad; Pavone, Vito; Lubrano, R; Falsaperla, R; Rizzo, Renata; Ruggieri, Martino
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020-01-01 Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
2021-01-01 Falsaperla, R.; Sciuto, L.; La Spina, L.; Sciuto, S.; Pratico, A. D.; Ruggieri, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype | 1-gen-2020 | Sapuppo, A.; Pavone, P.; Pratico, A. D.; Ruggieri, M.; Bertino, G.; Fiumara, A. | |
| Introduction to phacomatoses (neurocutaneous disorders) in childhood | 1-gen-2020 | Ruggieri, M.; Polizzi, A.; Marceca, G. P.; Catanzaro, S.; Pratico, A. D.; Di Rocco, C. | |
| Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) | 1-gen-2018 | Sullo, Federica; Praticò, Andrea D.; Polizzi, Agata; Catanzaro, Stefano; Mantegna, Selene; Lacarrubba, Francesco; Micali, Giuseppe; Fiumara, Agata; Smilari, Pierluigi; Greco, Filippo; Schepis, Carmelo; Pirrone, Concetta; Zanghì, Antonino; Pascual-Castroviejo, Ignacio; Ruggieri, Martino | |
| Neurocutaneous syndromes in art and antiquities | 1-gen-2021 | Ruggieri, Martino; Gentile, Amalia Egle; Ferrara, Vincenza; Papi, Massimo; Praticò, Andrea D.; Mudry, Albert; Taruscio, Domenica; Micali, Giuseppe; Polizzi, Agata | |
| Holoprosencephaly and Recurrent Episodes of Severe Neurogenic Hypernatremia | 1-gen-2016 | Pavone, P; Praticò, A; Ruggieri, Martino; Rizzo, Renata; Falsaperla, R. | |
| Is benign familial neonatal KCNQ2-related epilepsy always familially benign? J pediatric neonatal individualized medicine | 1-gen-2018 | Pavone, P; Praticò, Ad; Falsaperla, R; Striano, P; Ruggieri, M | |
| Psychological impact of neovagina creation and uterus transplantation in the patients affected from Mayer–Rokitanski–Kuster–Hauser syndrome: A narrative review | 1-gen-2024 | Pecorino, Basilio; Scibilia, Giuseppe; Ferrara, Martina; Veroux, Pierfrancesco; Mereu, Liliana; Serretti, Alessandro; Scollo, Paolo | |
| Predictive Artificial Intelligence Models for Energy Efficiency in Hybrid and Electric Vehicles: Analysis for Enna, Sicily | 1-gen-2024 | Mądziel, Maksymilian; Campisi, Tiziana | |
| SCN1B gene: A close relative to SCN1A | 1-gen-2021 | Pasquetti, E.; Bianco, M. L.; Sullo, F.; Patane, F.; Sciuto, L.; Polizzi, A.; Pratico, A. D.; Zanghi, A.; Falsaperla, R. | |
| The spectrum of KCNQ2- And KCNQ3-related epilepsy | 1-gen-2021 | Portale, A.; Comella, M.; Salomone, G.; Di Nora, A.; Marino, L.; Leonardi, R.; Pratico, A. D.; Falsaperla, R. | |
| Did Cro-Magnon 1 have neurofibromatosis type 2? | 1-gen-2018 | Ruggieri, M; Praticò, Ad; Catanzaro, Stefano; Palmucci, S; Polizzi, A | |
| Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes | 1-gen-2018 | Ruggieri, Martino; Praticò, Andrea D.; Caltabiano, Rosario; Polizzi, Agata Rita Maria | |
| In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) | 1-gen-2018 | Ranieri, C.; DI TOMMASO, SIMONA CRISTINA CHIARA; Loconte, D. C.; Grossi, V.; Sanese, P.; Bagnulo, R.; Susca, F. C.; Forte, G.; Peserico, A.; De Luisi, A.; Bartuli, A.; Selicorni, A.; Melis, D.; Lerone, M.; Praticò, A. D.; Abbadessa, G.; Yu, Y.; Schwartz, B.; Ruggieri, Martino; Simone, Cristiano; Resta, Nicoletta | |
| Hypomelanosis of Ito | 1-gen-2018 | Praticò, Andrea D.; Sullo, Federica; Polizzi, Agata; Battaglini, Chiara Maria; Schepis, Carmelo; Pirrone, Concetta; Lacarrubba, Francesco; Micali, Giuseppe; Dinotta, Franco; Savasta, Salvatore; Commodari, Elena; Salafia, STEFANIA FRANCESCA; Zanghì, Antonino; Pascual-Castroviejo, Ignacio; Ruggieri, Martino | |
| Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy | 1-gen-2020 | Pavone, P.; Ruggieri, M.; Marino, S. D.; Corsello, G.; Pappalardo, X.; Polizzi, A.; Parano, E.; Romano, C.; Marino, S.; Pratico, A. D.; Falsaperla, R. | |
| A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review | 1-gen-2016 | Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M. | |
| Ketogenic diet for infants with epilepsy: A literature review | 1-gen-2020 | Falsaperla, R.; D'Angelo, G.; Pratico, A. D.; Mauceri, L.; Barbagallo, M.; Pavone, P.; Catanzaro, S.; Gitto, E.; Corsello, G.; Ruggieri, M. | |
| Ataxia in children: early recognition and clinical evaluation | 1-gen-2017 | Pavone, P; Praticò, Ad; Pavone, Vito; Lubrano, R; Falsaperla, R; Rizzo, Renata; Ruggieri, Martino | |
| Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis | 1-gen-2020 | Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele | |
| Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review | 1-gen-2021 | Falsaperla, R.; Sciuto, L.; La Spina, L.; Sciuto, S.; Pratico, A. D.; Ruggieri, M. |
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