Cited by

• Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

  Stevenson DA, Viskochil DH, Rope AF, Carey JC. Stevenson DA, et al. Clin Genet. 2006 Mar;69(3):246-53. doi: 10.1111/j.1399-0004.2006.00576.x. Clin Genet. 2006. PMID: 16542390 Free PMC article.
• Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

  Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
• 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.

  Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
• An Update on the Ophthalmologic Features in the Phakomatoses.

  Abdolrahimzadeh S, Plateroti AM, Recupero SM, Lambiase A. Abdolrahimzadeh S, et al. J Ophthalmol. 2016;2016:3043026. doi: 10.1155/2016/3043026. Epub 2016 Jul 17. J Ophthalmol. 2016. PMID: 27493794 Free PMC article. Review.
• Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

  Tartaglia M, Gelb BD. Tartaglia M, et al. Ann N Y Acad Sci. 2010 Dec;1214:99-121. doi: 10.1111/j.1749-6632.2010.05790.x. Epub 2010 Oct 19. Ann N Y Acad Sci. 2010. PMID: 20958325 Free PMC article. Review.