Online Mendelian Inheritance in Man Database - Entry #162200. http://www.omim.org/entry/162200. Accessed January 1, 2017
Anderson J. L. Gutmann D. H. Neurofibromatosis type 1. Handb Clin Neurol: 2015; 132 75 86
Hirbe A. C. Gutmann D. H. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol: 2014; 13 08 834 843
Marchuk D. A. Saulino A. M. Tavakkol R., et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics: 1991; 11 04 931 940
Upadhyaya M. Huson S. M. Davies M., et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet: 2007; 80 01 140 151
Abramowicz A. Gos M. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease. Dev Period Med: 2014; 18 03 297 306
Trovó-Marqui A. B. Tajara E. H. Neurofibromin: a general outlook. Clin Genet: 2006; 70 01 1 13
Upadhyaya M. Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn: 2010; 4 04 307 322
Valero M. C. Martín Y. Hernández-Imaz E., et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn: 2011; 13 02 113 122
Ben-Salem S. Al-Shamsi A. M. Ali B. R. Al-Gazali L. The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. Childs Nerv Syst: 2014; 30 07 1183 1189
The Human Gene Mutation Database http:/www.hgmd.org. Accessed January 1, 2017
Pasmant E. Sabbagh A. Spurlock G., et al. members of the NF France Network. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat: 2010; 31 06 E1506 E1518
Alkindy A. Chuzhanova N. Kini U. Cooper D. N. Upadhyaya M. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics: 2012; 6 12
Castle B. Baser M. E. Huson S. M. Cooper D. N. Upadhyaya M. Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet: 2003; 40 10 e109
Sabbagh A. Pasmant E. Laurendeau I., et al. members of the NF France Network. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet: 2009; 18 15 2768 2778
Stewart D. R. Brems H. Gomes A. G., et al. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med: 2014; 16 06 448 459
Friedrich R. E. Mautner V. F. Scheuer H. A. Loss of heterozygosity in tumor cells of a recurrent mandibular giant cell granuloma in neurofibromatosis type 1. Anticancer Res: 2007; 27 (4A): 2079 2083