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] 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 …

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 …

The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
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 …

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 …

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 …

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 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 …

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 …

[HTML][HTML] An update on neurofibromatosis type 1-associated gliomas

M Lobbous, JD Bernstock, E Coffee, GK Friedman… - Cancers, 2020 - mdpi.com
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 …