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 …
[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 …
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809 …
K Rojnueangnit, J Xie, A Gomes, A Sharp… - Human …, 2015 - Wiley Online Library
ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders,
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
Cutaneous neurofibromas: current clinical and pathologic issues
N Ortonne, P Wolkenstein, JO Blakeley, B Korf… - Neurology, 2018 - AAN Enterprises
Objective To present the current terminology and natural history of neurofibromatosis 1
(NF1) cutaneous neurofibromas (cNF). Methods NF1 experts from various research and …
(NF1) cutaneous neurofibromas (cNF). Methods NF1 experts from various research and …
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
Background Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition
syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and …
syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and …
Mind–body therapy via videoconferencing in patients with neurofibromatosis: an RCT
AM Vranceanu, E Riklin, VL Merker, EA Macklin… - Neurology, 2016 - AAN Enterprises
Objective: To test, within a single-blind randomized controlled trial, the feasibility,
acceptability, efficacy, and durability of a mind–body program (the Relaxation Response …
acceptability, efficacy, and durability of a mind–body program (the Relaxation Response …
Effect of mind-body skills training on quality of life for geographically diverse adults with neurofibromatosis: a fully remote Randomized Clinical Trial
AM Vranceanu, HR Manglani, NR Choukas… - JAMA Network …, 2023 - jamanetwork.com
Importance Neurofibromatoses (NF; NF1, NF2, and schwannomatosis) are hereditary tumor
predisposition syndromes with a risk for poor quality of life (QOL) and no evidence-based …
predisposition syndromes with a risk for poor quality of life (QOL) and no evidence-based …
Neurofibromatosis‐and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations
A Goetsch Weisman, S Weiss McQuaid… - American Journal of …, 2023 - Wiley Online Library
Neurofibromatosis (NF) and schwannomatosis (SWN) are genetic conditions characterized
by the risk of developing nervous system tumors. Recently revised diagnostic criteria include …
by the risk of developing nervous system tumors. Recently revised diagnostic criteria include …
[PDF][PDF] Quality of life in patients with neurofibromatosis type 1 and 2 in Canada
Background There is scarce data on the quality of life of people with neurofibromatosis type
1 (NF1) and type 2 (NF2) in Canada. Methods A cross-sectional study of adults with NF1 and …
1 (NF1) and type 2 (NF2) in Canada. Methods A cross-sectional study of adults with NF1 and …