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2014, Número 3-4

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MEDICC Review 2014; 16 (3-4)


Neurofibromatosis 1 prevalence in children aged 9–11 years, Pinar del Río province, Cuba

Orraca CM, Morejón HG, Cabrera RN, Menéndez GR, Orraca CO

Idioma: Ingles.
Referencias bibliográficas: 22
Paginas: 22-26
Archivo PDF: 132.98 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, et al. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat. 2011 Feb;32(2):213–9.

  2. Pascual I, editor. Introducción e historia. Epidemiología: Prevalencia. In: Neurofibromatosis. Madrid: Escuela Libre Editorial, Fundación Once (ES); 2001. p. 13–9. Spanish.

  3. Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Neurofibromatosis type 1: from genotype to phenotype. J Med Genet [Internet]. 2012 Aug [cited 2014 Jan 6];49(8):483–9. Available from: http://jmg.bmj.com/content/49/8/483.full.pdf+html

  4. Espósito M, Marotta R, Roccella M, Gallai B, Parisi L, Lavano SM, et al. Pediatric neurofibromatosis 1 and parental stress: a multicenter study. Neuropsychiatr Dis Treat. [Internet]. 2014 Jan 22 [cited 2014 Jan 6];10:141–6. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904813/pdf/ndt-10-141.pdf

  5. Hsueh YP. From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation. J Biomed Sci [Internet]. 2012 Mar 26 [cited 2014 Jan 6];19:3. Available from: http://www.jbiomedsci.com/content/pdf/1423-0127-19-33.pdf

  6. Ferner RE. Neurofibromatosis 1. Eur J Hum Gent [Internet]. 2007 Feb [cited 2014 Jan 6];15(2):131–8. Available from: http://www.nature.com/ejhg/journal/vaop/ncurrent/full/5201676a.html

  7. Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of neurofibromatosis 1. Am J Pathol [Internet]. 2011 May [cited 2014 Jan 6];178(5):1932–9. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081157/pdf/main.pdf

  8. Online Mendelian Inheritance in Men [Internet]. Maryland: John Hopkins University (US); c1966–2014. Neurofibromatosis, Type I; 2013 [updated 2014 Jul 16; cited 2014 Jan 6]; [about 6 screens]. Available from: http://omim.org/entry/162200

  9. Medline Plus [Internet]. Washington, DC: National Library of Medicine (US); c2014. Neurofibromatosis-1; 2012 [updated 2014 Feb 3; cited 2014 Jan 10]; [about 3 p.]. Available from: http://www.nlm.nih.gov/medlineplus/spanish/neurofibromatosis.html

  10. Jiménez PE, López F, Portilla JC, Romero RM, Fermín JA, Casado I. Manifestaciones clínicas y neurorradiológicas en los adultos con neurofibromatosis tipo 1. Rev Neurol [Internet]. 2013 Jul–Aug [cited 2014 Jan 6];28(6):361–5. Available from: http://ac.els-cdn.com/S2173580813001028/1-s2.0-S2173580813001028-main.pdf?_tid=16b09d8a-9811-11e3-85f8-00000aab0f6b&acdnat=1392668671_4377a56b825cf586cc9bc236f3ad3f3c. Spanish.

  11. Pascual I, Pascual SI. Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum. Childs Nerv Syst [Internet]. 2012 Dec [cited 2014 Jan 6];28(12):2177–80. Available from: http://download.springer.com/static/pdf/165/art%253A10.1007%252Fs00381-012-1903-9.pdf?auth66=1393085479_1491348da5fabe525024ec5472568648&ext=.pdf

  12. Pérez J. Apuntes sobre la historia de la Neurofibromatosis tipo I (enfermedad de Von Recklinghausen). Piel [Internet]. 2006 Jan [cited 2014 Jan 6];21(1):[about 5 p.]. Available from: http://www.elsevier.es/es/revistas/piel-21/apuntes-historia-neurofibromatosis-tipo-i-enfermedad-von-13083553-historia-2006. Spanish.

  13. Ji J, Shimony J, Gao F, McKinstry RC, Gutmann DH. Optic nerve tortuosity in children with neurofibromatosis type 1. Pediatr Radiol [Internet]. 2013 Oct [cited 2014 Jan 6]; 43(10):1336–43. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904184/

  14. Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations. J Med Genet [Internet]. 2011 Apr [cited 2014 Jan 6];48(4):256–60. Available from: http://jmg.bmj.com/content/48/4/256.full.pdf+html

  15. Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, et al. Visual outcomes in children with neurofibromatosis type 1–associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol [Internet]. 2012 Jun [cited 2014 Jan 6];14(6):[about 8 p.]. Available from: http://neuro-oncology.oxfordjournals.org/content/14/6/790.full.pdf+html

  16. Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DV, et al. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat [Internet]. 2011 Jun [cited 2014 Jan 6];32(6):E2134–47. Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.21476/pdf

  17. Pascual I, Pascual SI, Velázquez R, Viaño J. Tumor del cuerpo calloso como presentación de neurofibromatosis tipo 1 en un paciente y revisión de la bibliografía. Rev Neurol [Internet]. 2012 Nov 1 [cited 2014 Jan 6];55(9):528–32. Available from: http://www.neurologia.com/pdf/Web/5509/bi090528.pdf. Spanish.

  18. Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, et al. A novel gene mutation in an italian family with neurofibromatosis type 1. Childs Nervs Syst. 2011 Apr;27(4):635–8.

  19. Secchi NC, Jiménez D. Manifestaciones neurológicas y crisis epilépticas secundarias a neurofibromatosis. Reporte de un caso. Med Int Mex [Internet]. 2011 [cited 2014 Jan 6];27(5):479–84. Available from:http://www.medigraphic.com/pdfs/medintmex/mim-2011/mim115k.pdf. Spanish.

  20. Sahin M. Neurocutaneous Syndromes. In: Nelson Textbook of Pediatrics. 19th ed. Philadelphia: Saunders Elsevier; 2011. p. 589.

  21. Fazii P, Passamonti M, Lappa G, Di Mascio R, Ballone E. Prevalence of neurofibromatosis type 1 among the young adult population of central Italy. Arch Dermatol [Internet]. 1998 Oct [cited 2014 Jan 6];134(10):1303–4. Available from: http://archderm.ama-assn.org/cgi/reprint/134/10/1303

  22. Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol [Internet]. 2005 Jan [cited 2014 Jan 6];141(1):71–4. Available from: http://archderm.ama-assn.org/cgi/reprint/141/1/71




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