Associated Papers
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
Santoro C et al.
Plos One, 2018
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Santoro C et al.
American Journal of Medical Genetics. Part A, 2017
Germline and somatic NF1 gene mutations in plexiform neurofibromas.
Upadhyaya M et al.
Human Mutation, 2008
Select a paper to view details