Search Results - "Divona, Luigina"
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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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Concomitant Right Subscapular and Left Olecranon Elastofibroma Followed by Inversion of the Lesions: Case Report
Published in Anticancer research (01-02-2009)“…Elastofibroma is a benign, poorly circumscribed, tumor-like condition involving, in the vast majority of cases, the subscapular region of elderly individuals,…”
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Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients
Published in Dermatology (Basel) (2009)“…Neurofibromatosis type 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a…”
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NF1 gene analysis based on DHPLC
Published in Human mutation (01-02-2003)“…The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. The majority of these mutations are private and rare, generating…”
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Coincidence of Neurofibromatosis Type 1 and Multiple Endocrine Neoplasia Type 2
Published in The Endocrinologist (Baltimore, Md.) (01-11-2008)Get full text
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