Results 1 to 10 of about 33,733 (216)

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Genes, 2021
Hildegard Kehrer-Sawatzki, David N Cooper, Victor-Felix Mautner   +2 more
exaly  

NF1-mutated melanomas reveal distinct clinical characteristics depending on tumour origin and respond favourably to immune checkpoint inhibitors

European Journal of Cancer, 2021
Carl M Thielmann, Eleftheria Chorti, Rajmohan Murali   +2 more
exaly  

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

Frontiers in Neurology, 2021
Cheng-Jiang Wei, Yue-Hua Li, Yi-Hui Gu   +2 more
exaly  

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Human Mutation, 2010
Eric Pasmant, Gill Spurlock, S Barbarot   +2 more
exaly  

NF1

2017
openaire   +1 more source

Unequal expression of NF1 alleles

Nature Genetics, 1994
S, Hoffmeyer, G, Assum, D, Kaufmann, W, Krone   +3 more
openaire   +2 more sources

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016
D Gareth Evans, E Howard, S M Huson
exaly  

NF1

2005
openaire   +1 more source

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

Human Mutation, 2004
Lan Kluwe, Stefan Gesk, Reinhard E Friedrich   +2 more
exaly  

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Human Mutation, 2013
Eric Pasmant, Armelle Lușcan, Michel Vidaud   +2 more
exaly