Associated Papers
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
31730495 (PubMed )
Supplement: 13023_2019_1223_MOESM1_ESM.doc
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
Ben-Shachar S et al.
European Journal of Human Genetics : Ejhg, 2013
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.
Ruggieri M et al.
American Journal of Medical Genetics. Part A, 2011
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
Nyström AM et al.
Clinical Genetics, 2009
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A et al.
American Journal of Human Genetics, 2005
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