Clinical characterization of children and adolescents with NF1 microdeletions
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DOI: 10.1007/s00381-020-04717-0
Abstract: An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and… read more here.
Keywords: clinical characterization; nf1 microdeletions; characterization children; children adolescents ... See more keywords
Ocular surface involvement in patients with neurofibromatosis type 1 syndrome
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DOI: 10.1007/s00417-020-04717-5
Abstract: Purpose The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1). Methods Twenty-eight patients with NF1 and 14 healthy subjects were included in this… read more here.
Keywords: ocular surface; corneal sensitivity; surface; patients neurofibromatosis ... See more keywords
The importance of suicide risk assessment in patients affected by neurofibromatosis.
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DOI: 10.1080/13651501.2021.1921217
Abstract: OBJECTIVE Neurofibromatosis 1 (NF1) is a chronic medical disease that often presents with psychiatric disorders. We investigated suicidal ideation in NF1 patients compared to healthy controls. We also evaluated whether hopelessness, depressive symptoms and perceived… read more here.
Keywords: ideation; perceived disability; suicidal ideation; importance suicide ... See more keywords
Neurofibromatosis type 1
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DOI: 10.1590/0100-3984.2022.55.1e2
Abstract: 1. Sabin Medicina Diagnóstica, Brasília, DF. Brazil. Email: alex.manzano1@ gmail.com. https://orcid.org/0000-0003-3047-519X. Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic diseases, with an estimated incidence of 1:2,500 to 1:3,000… read more here.
Keywords: patients nf1; disease; tomography; neurofibromatosis type ... See more keywords