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 …
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 …
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
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …
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 …
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 …
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 …
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 …
(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 …
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 …
substitutions and epigenetic modifications that drive malignant transformation. The Cancer …
The molecular landscape of glioma in patients with Neurofibromatosis 1
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 …
which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a …