Neurofibromatosis: the current state of the problem

Abstract


Neurofibromatosis is a genetically heterogenic group of monogenic diseases with determined etiology (neurofibromatosis I, neurofibromatosis II, schwannomatosis) and disorders with unclear molecular nature. In this review diagnostic criteria of neurofibromatosis I and II and schwannomatosis are presented. New data concerning correlation of genotype and phenotype in neurofibromatosis I as well as clinical and genetic characteristics of other forms.

References

  1. Мордовцев В. Н., Филиппова М. Г., Мозолевский Ю. В. // Рус. мед. журн. - 1997. - Т. 5, № 11. - С. 23-25.
  2. Филиппова М. Г., Мордовцева В. В. // Детская дерматовенерология: Руководство для врачей. - Казань; 1996. - С. 56-62.
  3. Bausch B., Borozdin W., Neumann H. P. // N. Engl. J. Med. - 2006. - Vol. 354. - P. 2729-2731.
  4. De Raedt T., Brems H., Wolkenstein P. et al. // Am. J. Hum. Genet. - 2003. - Vol. 72. - P. 1288-1292.
  5. De Raedt T., Brems H., Lopez-Correa C. et al. // Genomics. - 2004. - Vol. 84. - P. 346-360.
  6. De Smet L., Sciot R., Legius E. // J. Med. Genetics. - 2002. - Vol. 39, N 8. - P. e45.
  7. Evans D. G., Moran A., King A. et al. // Otol. Neurotol. - 2005. - Vol. 26. - P. 93-97.
  8. Evans D. G., Birch J. M., Ramsden R. T. et al. // J. Med. Genetics. - 2006. - Vol. 43. - P. 289-294.
  9. Felton K. E., Gilchrist D. M., Andrew S. E. // Clin. Genet. - 2007. - Vol. 71. - P. 483-498.
  10. Ferner R. E., Huson S. M., Thomas N. et al. // J. Med. Genet. - 2007. -Vol. 44, N 2. - P. 81-88.
  11. Hulsebos T. J., Plomp A. S., Wolterman R. A. et al. // Am. J. Hum. Genet. - 2007. - Vol. 80. - P. 805-810.
  12. Kluwe L., Mautner V., Heinrrich B. et al. // J. Med. Genet. - 2003. - Vol. 40. - P. 109-114.
  13. Legius E., Marchuk D. A., Collins F. S., Glover T. W. // Nat. Genet. - 1993. - Vol. 3. - P. 122-126.
  14. Listernick R., Darling C., Grennwald M. et al. // J. Pediatr. - 1995. - Vol. 127. - P. 718-722.
  15. MacCollin M., Chiocca E. A., Evans D. G. et al. // Neurology. - 2005. - Vol. 64. - P. 1838-1845.
  16. Mordovzeva V. V., Filippova M. G. // Dermatol. Cosmetica. - 1997. - Vol. 7. - P. 297-304.
  17. National Institutes of Health Consensus Development Conference Statement (1988) Neurofibromatosis. Bethesda Md., USA, July 13-15, 1987 // Neurofibromatosis. - 1988. - Vol. 1, N 3. - P. 172-178.
  18. Niemeyer C. M., Locatelli F. // Childhood leukemias / Ed. C. H. Pui. - New York: Cambridge University Press; 2006. - P. 571-598.
  19. Rouleau G. A., Merel P., Lutchman M. et al. // Nature. - 1993. - Vol. 363. - P. 515-521.
  20. Antinheimo J., Sankila R., Carpén O. et al. // Neurology. - 2000. - Vol. 54, N 1. - P. 71-76.
  21. Senger C., Serra E., Lazaro C. et al. // Am. J. Hum. Genet. - 2007. - Vol. 81. - P. 1201-1220.
  22. Wallace M. R., Marchuk D. A., Andersen L. B. et al. // Science. - 1990. - Vol. 249. - P. 181-186.
  23. http://humbio.ru/humbio/har/0049df89.htm

Statistics

Views

Abstract - 18

Cited-By


Article Metrics

Metrics Loading ...

PlumX

Dimensions


Copyright (c) 2020 Asanov A.Y., Filippova M.G., Asanov A.Y., Filippova M.G.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies