Current understanding of neurofibromatosis type 1, 2, and schwannomatosis
R Tamura - International journal of molecular sciences, 2021 - mdpi.com
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of
tumors of the central or peripheral nervous system including the brain, spinal cord, organs …
tumors of the central or peripheral nervous system including the brain, spinal cord, organs …
The diagnosis and management of neurofibromatosis type 1
KI Ly, JO Blakeley - Medical Clinics, 2019 - medical.theclinics.com
Neurofibromatosis (NF) type 1 (NF1), NF type 2 (NF2), and schwannomatosis constitute a
group of autosomal dominant tumor suppressor syndromes that predispose to benign and …
group of autosomal dominant tumor suppressor syndromes that predispose to benign and …
Neurofibromin structure, functions and regulation
M Bergoug, M Doudeau, F Godin, C Mosrin, B Vallée… - Cells, 2020 - mdpi.com
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …
Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1
C Anastasaki, J Mo, JK Chen, J Chatterjee… - Nature …, 2022 - nature.com
Neuronal activity is emerging as a driver of central and peripheral nervous system cancers.
Here, we examined neuronal physiology in mouse models of the tumor predisposition …
Here, we examined neuronal physiology in mouse models of the tumor predisposition …
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
C Bergqvist, A Servy, L Valeyrie-Allanore… - Orphanet Journal of …, 2020 - Springer
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for …
H Kehrer-Sawatzki, DN Cooper - Human genetics, 2022 - Springer
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 …
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …
[HTML][HTML] Neurofibromatosis 1
JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
Optic pathway gliomas in neurofibromatosis‐1: controversies and recommendations
R Listernick, RE Ferner, GT Liu… - Annals of Neurology …, 2007 - Wiley Online Library
Optic pathway glioma (OPG), seen in 15% to 20% of individuals with neurofibromatosis type
1 (NF1), account for significant morbidity in young children with NF1. Overwhelmingly a …
1 (NF1), account for significant morbidity in young children with NF1. Overwhelmingly a …
An update on neurofibromatosis type 1-associated gliomas
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome
that affects children and adults. Individuals with NF1 are at high risk for central nervous …
that affects children and adults. Individuals with NF1 are at high risk for central nervous …
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in …
M Koczkowska, T Callens, Y Chen, A Gomes… - Human …, 2020 - Wiley Online Library
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.
Met1149, p. Arg1276, or p. Lys1423, representing three nontruncating NF1 hotspots in the …
Met1149, p. Arg1276, or p. Lys1423, representing three nontruncating NF1 hotspots in the …