Wyburn-Mason Syndrome
2018-01-01 STEFANIA PIERA, Tomarchio; Anna, Portale; Praticò, Andrea D.; Stefano, Catanzaro; Polizzi, Agata; Giuseppe, Belfiore; Pirrone, Concetta; Schepis, Carmelo; Commodari, Elena; ELENA RITA, Pratico'; Zanghì, Antonio; Ruggieri, Martino; Konez, Orhan
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
2019-01-01 Pavone, Piero; Falsaperla, Raffaele; Rizzo, Renata; Praticò, Andrea D.; Ruggieri, Martino
Phacomatosis Pigmentokeratotica
2018-01-01 Strano, Serena; Polizzi, Agata; Ruggieri, Martino; Garozzo, Maria Teresa; La Mendola, Flavia; Marino, Simona; Pirrone, Concetta; Zanghì, Antonino; Lacarrubba, Francesco; Micali, Giuseppe; Schepis, Carmelo; Praticò, Elena R.; Praticò, Andrea D.
Clinical course of N-methyl-D-aspartate receptor encephalitis and the effectiveness of cyclophosphamide treatment
2017-01-01 Pavone, P; Falsaperla, R; Ruggieri, Martino; Verrotti, A; Lubrano, R; Rizzo, Renata; Salomone, Salvatore; Praticò, A. D.
Cognitive disabilities and bioethical implications in down syndrome
2019-01-01 Tornali, C.; Martini, M.; Giangiuseppe Vecchio, F. A.; Bragazzi, N. L.; Pratico, A.; Polizzi, A.; Ruggieri, M.; Vecchio, I.
Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis
2019-01-01 Pavone, Piero; Falsaperla, Raffaele; Marino, Silvia; Ruggieri, Martino; Praticò, Andrea D; Nardone, Beatrice
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases
2020-01-01 Fiumara, A; Lanzafame, G; Arena, A; Sapuppo, A; Raudino, F; Praticò, A; Pavone, P; Barone, R.
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment
2017-01-01 Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele
Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment
2017-01-01 Pavone, Piero; Pratico', ANDREA DOMENICO; Ruggieri, Martino; Rizzo, Renata; Falsaperla, Raffaele Giuseppe
A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features
2016-01-01 Pavone, P; Praticò, Ad; Gentile, G; Falsaperla, R; Iemmolo, R; Guarnaccia, M; Cavallaro, S; Ruggieri, Martino
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)
2018-01-01 Garozzo, Maria Teresa; Attardo, DANIELE BALDASSARE; Smilari, Pierluigi; Greco, Filippo; Fiumara, Agata; Polizzi, Agata; Praticò, Andrea D.; Mazzurco, MARINA GIUSEPPINA; Pirrone, Concetta; Zanghì, Antonio; Schepis, Carmelo; Lacarrubba, Francesco; Micali, Giuseppe; Ruggieri, Martino
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Wyburn-Mason Syndrome | 1-gen-2018 | STEFANIA PIERA, Tomarchio; Anna, Portale; Praticò, Andrea D.; Stefano, Catanzaro; Polizzi, Agata; Giuseppe, Belfiore; Pirrone, Concetta; Schepis, Carmelo; Commodari, Elena; ELENA RITA, Pratico'; Zanghì, Antonio; Ruggieri, Martino; Konez, Orhan | |
| Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome? | 1-gen-2019 | Pavone, Piero; Falsaperla, Raffaele; Rizzo, Renata; Praticò, Andrea D.; Ruggieri, Martino | |
| Phacomatosis Pigmentokeratotica | 1-gen-2018 | Strano, Serena; Polizzi, Agata; Ruggieri, Martino; Garozzo, Maria Teresa; La Mendola, Flavia; Marino, Simona; Pirrone, Concetta; Zanghì, Antonino; Lacarrubba, Francesco; Micali, Giuseppe; Schepis, Carmelo; Praticò, Elena R.; Praticò, Andrea D. | |
| Clinical course of N-methyl-D-aspartate receptor encephalitis and the effectiveness of cyclophosphamide treatment | 1-gen-2017 | Pavone, P; Falsaperla, R; Ruggieri, Martino; Verrotti, A; Lubrano, R; Rizzo, Renata; Salomone, Salvatore; Praticò, A. D. | |
| Cognitive disabilities and bioethical implications in down syndrome | 1-gen-2019 | Tornali, C.; Martini, M.; Giangiuseppe Vecchio, F. A.; Bragazzi, N. L.; Pratico, A.; Polizzi, A.; Ruggieri, M.; Vecchio, I. | |
| Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis | 1-gen-2019 | Pavone, Piero; Falsaperla, Raffaele; Marino, Silvia; Ruggieri, Martino; Praticò, Andrea D; Nardone, Beatrice | |
| COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases | 1-gen-2020 | Fiumara, A; Lanzafame, G; Arena, A; Sapuppo, A; Raudino, F; Praticò, A; Pavone, P; Barone, R. | |
| A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment | 1-gen-2017 | Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele | |
| Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment | 1-gen-2017 | Pavone, Piero; Pratico', ANDREA DOMENICO; Ruggieri, Martino; Rizzo, Renata; Falsaperla, Raffaele Giuseppe | |
| A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features | 1-gen-2016 | Pavone, P; Praticò, Ad; Gentile, G; Falsaperla, R; Iemmolo, R; Guarnaccia, M; Cavallaro, S; Ruggieri, Martino | |
| Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) | 1-gen-2018 | Garozzo, Maria Teresa; Attardo, DANIELE BALDASSARE; Smilari, Pierluigi; Greco, Filippo; Fiumara, Agata; Polizzi, Agata; Praticò, Andrea D.; Mazzurco, MARINA GIUSEPPINA; Pirrone, Concetta; Zanghì, Antonio; Schepis, Carmelo; Lacarrubba, Francesco; Micali, Giuseppe; Ruggieri, Martino | |
| 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. |
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