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] 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 …
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
RE Ferner, SM Huson, N Thomas, C Moss… - Journal of medical …, 2007 - jmg.bmj.com
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression …
dominant pattern of inheritance. The complications are diverse and disease expression …
The congenital and acquired mechanisms implicated in the etiology of central precocious puberty
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …
congenital and acquired causes that can be associated with structural or functional brain …
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 …
Optic pathway gliomas in neurofibromatosis type 1
CJ Campen, DH Gutmann - Journal of child neurology, 2018 - journals.sagepub.com
Neurofibromatosis type 1 (NF1) is one of the most common brain tumor predisposition
syndromes, in which affected children are prone to the development of low-grade gliomas …
syndromes, in which affected children are prone to the development of low-grade gliomas …
Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective
RE Ferner - The Lancet Neurology, 2007 - thelancet.com
Summary Historically, neurofibromatosis 1 (NF1) has been inextricably linked with
neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous …
neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous …
Neurofibromatosis type 1 (NF1): diagnosis and management
RE Ferner, DH Gutmann - Handbook of clinical neurology, 2013 - Elsevier
Abstract Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major
impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a …
impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a …
Visual outcomes in children with neurofibromatosis type 1–associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis
MJ Fisher, M Loguidice, DH Gutmann… - Neuro …, 2012 - academic.oup.com
Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1
(NF1); up to half become symptomatic. There is little information regarding ophthalmologic …
(NF1); up to half become symptomatic. There is little information regarding ophthalmologic …
[HTML][HTML] 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 …