Seminars in Pediatric Neurology
Volume 13, Issue 1 , Pages 43-47 , March 2006

Genetic Aspects of Neurocutaneous Disorders

References 

  1. Berlin AL , Paller AS , Chan LS . Incontinentia pigmenti (A review and update on the molecular basis of pathophysiology) . J Am Acad Dermatol . 2002;47:169–187
  2. The International Incontinentia Pigmenti Consortium. Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti . Nature . 2000;405:466–472
  3. Aradhya S , Woffendin H , Jakins T , et al.   A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations . Hum Mol Genet . 2001;10:2171–2179
  4. Parrish JE , Scheuerle AE , Lewis RA , et al.   Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2 . Hum Mol Genet . 1996;5:1777–1783
  5. Schuin T , Yamazaki I , Tamura K , et al.   Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease . Int J Clin Oncol . 2004;9:283–287
  6. Seizinger BR , Rouleau GA , Ozelius LJ , et al.   Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma . Nature . 1988;332:268–269
  7. Latif F , Tory K , Gnarra J , et al.   Identification of the von Hippel-Lindau disease tumor suppressor gene . Science . 1993;260:1317–1320
  8. Kaelin WG . Molecular basis of the VHL hereditary cancer syndrome . Nat Rev Cancer . 2002;2:673–682
  9. Sims K . Von Hippel-Lindau disease (gene to bedside) . Curr Opin Neurol . 2001;14:695–703
  10. Kim W , Kaelin WG . The von Hippel-Lindau tumor suppressor protein (New insights into oxygen sensing and cancer) . Curr Opin Genet Dev . 2003;13:55–60
  11. Beroud C , Joly D , Gallou C , et al.   Software and database for the analysis of mutations in the VHL gene . Nucleic Acids Res . 1998;26:256–258
  12. Friedrich CA . Genotype-phenotype correlation in von Hippel-Lindau syndrome . Hum Mol Genet . 2001;10:763–767
  13. Fryer AE , Chalmers A , Connor JM , et al.   Evidence that the gene for tuberous sclerosis is on chromosome 9 . Lancet . 1987;1:659–661
  14. Kandt RS , Haines JL , Smith M , et al.   Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease . Nat Genet . 1992;2:37–41
  15. van Slegtenhorst M , de Hoogt R , Hermans C , et al.   Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 . Science . 1997;277:805–808
  16. Consortium (ECTS)–European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16 . Cell . 1993;75:1305–1315
  17. Narayanan V . Tuberous sclerosis complex (genetics to pathogenesis) . Pediatr Neurol . 2003;29:404–409
  18. Dabora SL , Jozwiak S , Franz DN , et al.   Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 compared to TSC1 disease in multiple organs . Am J Hum Genet . 2001;68:64–80
  19. Viskochil D , White R , Cawthon R . The neurofibromatosis type 1 gene . Ann Rev Neurosci . 1993;16:183–205
  20. Friedman JM . Clinical genetics . In:  Friedman JM ,  Gurman DH ,  MacCollin M , et al. editor. Neurofibromatosis (Phenotype, Natural History, and Pathogenesis) . (ed 3). Baltimore, Maryland: Johns Hopkins University Press; 1999;p. 110–118

 Supported in part by the Barrow Neurological Foundation.

PII: S1071-9091(06)00014-3

doi: 10.1016/j.spen.2006.01.010

Seminars in Pediatric Neurology
Volume 13, Issue 1 , Pages 43-47 , March 2006

Article Tools

* Image Usage & Resolution