Search Results - "Doumar, Diane"
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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Published in Orphanet journal of rare diseases (03-02-2020)“…Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects…”
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Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1
Published in British journal of dermatology (1951) (23-01-2024)“…Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous…”
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Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients
Published in Journal of the European Academy of Dermatology and Venereology (01-05-2022)“…Background Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical…”
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Journal Article