Search Results - "GIUSTINI, Sandra"
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An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1
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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Retinal microvascular abnormalities in neurofibromatosis type 1
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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Ocular manifestations in Gorlin-Goltz syndrome
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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Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
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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Concomitant segmental vitiligo and segmental morphea in an 8-year-old boy
Published in Indian journal of dermatology (01-05-2021)Get full text
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Neuroretinal dysfunction in patients affected by neurofibromatosis type 1
Published in International journal of ophthalmology (2022)“…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
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
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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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
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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Gastrointestinal and Retroperitoneal Manifestations of Type 1 Neurofibromatosis
Published in Journal of gastrointestinal surgery (2010)“…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
Published in American journal of medical genetics. Part A (01-06-2010)“…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
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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Halo-like phenomenon in a patient with neurofibromatosis type 1 and Mongolian spot
Published in Italian journal of dermatology and venereology (01-12-2021)Get more information
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Role of maxillofacial surgery in patients with neurofibromatosis type I
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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An Unusual Case: Neurofibromatosis Type 5
Published in Journal of International Dental & Medical Research (01-07-2012)Get full text
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Genital lichen sclerosus after nivolumab
Published in Dermatology online journal (15-11-2020)Get full text
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SD-OCT in NIR modality to diagnose retinal microvascular abnormalities in neurofibromatosis type 1
Published in Graefe's archive for clinical and experimental ophthalmology (01-09-2018)Get full text
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Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1
Published in Graefe's archive for clinical and experimental ophthalmology (01-02-2018)“…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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Lichen sclerosus and Sjögren's Syndrome
Published in Italian journal of dermatology and venereology (01-12-2021)Get more information
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A case of Cowden Syndrome associated with melanoma: the role of the dermatologist
Published in Italian journal of dermatology and venereology (01-12-2021)Get more information
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