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 …

Neurofibromatosis type 1

DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

[HTML][HTML] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

E Legius, L Messiaen, P Wolkenstein, P Pancza… - Genetics in …, 2021 - nature.com
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

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 …

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Health supervision for children with neurofibromatosis type 1

DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

The NF1 somatic mutational landscape in sporadic human cancers

C Philpott, H Tovell, IM Frayling, DN Cooper… - Human genomics, 2017 - Springer
Abstract Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man
(OMIM)# 162200) is an autosomal dominantly inherited tumour predisposition syndrome …

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 …

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Cancer Genome Atlas Research Network Tissue … - Nature, 2008 - nature.com
Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide
substitutions and epigenetic modifications that drive malignant transformation. The Cancer …

The molecular landscape of glioma in patients with Neurofibromatosis 1

F D'Angelo, M Ceccarelli, Tala, L Garofano, J Zhang… - Nature medicine, 2019 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in
which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a …