Search Results - "GIUSTINI, Sandra"

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    An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1 by Mallone, Fabiana, Lucchino, Luca, Giustini, Sandra, Lambiase, Alessandro, Moramarco, Antonietta

    Published in Orphanet journal of rare diseases (13-06-2022)
    “…Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and…”
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    Journal Article
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    Retinal microvascular abnormalities in neurofibromatosis type 1 by Moramarco, Antonietta, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Iacovino, Chiara, Bruscolini, Alice, Giustolisi, Rosalia, Giustini, Sandra

    Published in British journal of ophthalmology (01-11-2019)
    “…The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative…”
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    Journal Article
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    Ocular manifestations in Gorlin-Goltz syndrome by Moramarco, Antonietta, Himmelblau, Ehud, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Franzone, Federica, Iacovino, Chiara, Giustini, Sandra, Lambiase, Alessandro

    Published in Orphanet journal of rare diseases (18-09-2019)
    “…Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with…”
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    Journal Article
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    Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I by Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra

    Published in Orphanet journal of rare diseases (23-03-2021)
    “…Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with…”
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    Journal Article
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    Neuroretinal dysfunction in patients affected by neurofibromatosis type 1 by Moramarco, Antonietta, Lucchino, Luca, Mallone, Fabiana, Marcelli, Michela, Alisi, Ludovico, Roberti, Vincenzo, Giustini, Sandra, Lambiase, Alessandro, Nebbioso, Marcella

    “…To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway…”
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    Ophthalmic Manifestation in Neurofibromatosis Type 2 by Armentano, Marta, Lucchino, Luca, Alisi, Ludovico, Chicca, Antonio Valerio, Di Martino, Valerio, Miraglia, Emanuele, Iannetti, Ludovico, Comberiati, Anna Maria, Giustini, Sandra, Lambiase, Alessandro, Moramarco, Antonietta

    Published in Applied sciences (01-05-2023)
    “…Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal…”
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    Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects by Zinnamosca, Laura, Petramala, Luigi, Cotesta, Dario, Marinelli, Cristiano, Schina, Mauro, Cianci, Rosario, Giustini, Sandra, Sciomer, Susanna, Anastasi, Emanuela, Calvieri, Stefano, De Toma, Giorgio, Letizia, Claudio

    Published in Archives of Dermatological Research (01-07-2011)
    “…The aim of the study was to evaluate the prevalence of pheochromocytoma (PHEO) in patients with neurofibromatosis type 1 (NF1), and to analyze the behavior of…”
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    Journal Article
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    Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases by Giustini, Sandra, Miraglia, Emanuele, Berardesca, Enzo, Milani, Massimo, Calvieri, Stefano

    Published in Case reports in dermatology (19-09-2014)
    “…Skin cancer is common in xeroderma pigmentosum (XP) due to a DNA repair mechanisms genetic defect. Ultraviolet (UV) exposure is the main cause of increased…”
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    Journal Article
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    Gastrointestinal and Retroperitoneal Manifestations of Type 1 Neurofibromatosis by Basile, Ursula, Cavallaro, Giuseppe, Polistena, Andrea, Giustini, Sandra, Orlando, Gennaro, Cotesta, Dario, Petramala, Luigi, Letizia, Claudio, Calvieri, Stefano, De Toma, Giorgio

    “…Background Type 1 neurofibromatosis (NF1) is a genetic disease characterized by neoplastic and not neoplastic disorders, involving tissues of neuroectodermal…”
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    Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion by Bottillo, Irene, Torrente, Isabella, Lanari, Valentina, Pinna, Valentina, Giustini, Sandra, Divona, Luigina, De Luca, Alessandro, Dallapiccola, Bruno

    “…We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected…”
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    Surgical management of abdominal manifestations of type 1 neurofibromatosis: experience of a single center by Cavallaro, Giuseppe, Basile, Ursula, Polistena, Andrea, Giustini, Sandra, Arena, Rossella, Scorsi, Alessandro, Zinnamosca, Laura, Letizia, Claudio, Calvieri, Stefano, De Toma, Giorgio

    Published in The American surgeon (01-04-2010)
    “…Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and nonneoplastic disorders involving tissues of neuroectodermal and…”
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    Role of maxillofacial surgery in patients with neurofibromatosis type I by Fadda, Maria Teresa, Giustini, Sandra S, Verdino, Giuseppe G, Bartoli, Davina D, Mustazza, Maria Cristina, Iannetti, Giorgio G, Calvieri, Stefano S

    Published in The Journal of craniofacial surgery (01-05-2007)
    “…Neurofibromas are a clinical manifestation of neurofibromatos is type I (NF1). Management of these tumors remains a challenge for the clinician. The goal of…”
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    Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1 by Moramarco, Antonietta, Giustini, Sandra, Nofroni, Italo, Mallone, Fabiana, Miraglia, Emanuele, Iacovino, Chiara, Calvieri, Stefano, Lambiase, Alessandro

    “…Purpose Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of…”
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    Journal Article
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