Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
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DOI: 10.1007/s00439-021-02410-z
Abstract: Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as… read more here.
Keywords: neurofibromatosis type; nf1 young; diagnostic criteria; young children ... See more keywords
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas
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DOI: 10.1111/exd.13212
Abstract: Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in… read more here.
Keywords: nf1 gene; type nf1; neurofibromatosis type; gene beyond ... See more keywords
Neurofibromatosis type 1 (Nf1)‐mutant mice exhibit increased sleep fragmentation
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DOI: 10.1111/jsr.12816
Abstract: Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder in which affected children and adults are at a higher risk of sleep disorders. In an effort to identify potential sleep disturbances in a small animal model,… read more here.
Keywords: type nf1; nf1 mutant; neurofibromatosis type; nf1cko mice ... See more keywords
Abstract PR07: Phase II Trial of the MEK 1/2 inhibitor selumetinib (AZD6344, ARRY-142886 hydrogen sulphate) in adults with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PN)
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cancer Therapeutics"
DOI: 10.1158/1535-7163.targ-19-pr07
Abstract: Background: Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN) are locally invasive tumors that can cause debilitating complications including pain, disfigurement, and functional limitations. The primary treatment option is surgical debulking, which is often challenging and… read more here.
Keywords: neurofibromatosis type; mek; plexiform neurofibromas; nf1 inoperable ... See more keywords