MeSH Review:
Neurocutaneous Syndromes
- Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. MacCollin, M., Kwiatkowski, D. Curr. Opin. Neurol. (2001)
- Epilepsy in the setting of neurocutaneous syndromes. Kotagal, P., Rothner, A.D. Epilepsia (1993)
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Yamamoto, T., Pipo, J.R., Feng, J.H., Takeda, H., Nanba, E., Ninomiya, H., Ohno, K. Brain Dev. (2002)
- Incontinentia pigmenti in combination with decreased IgG subclass concentrations in a female newborn. Pauly, E., Linderkamp, O., Pöschl, J. Biol. Neonate (2005)
- Disorders of hypopigmentation in children. Pinto, F.J., Bolognia, J.L. Pediatr. Clin. North Am. (1991)
- Neurofibromatosis type 1: pathology, clinical features and molecular genetics. von Deimling, A., Krone, W., Menon, A.G. Brain Pathol. (1995)
- Epilepsy with bilateral occipital calcifications: a benign onset with progressive severity. Gobbi, G., Sorrenti, G., Santucci, M., Rossi, P.G., Ambrosetto, P., Michelucci, R., Tassinari, C.A. Neurology (1988)
- Neurocutaneous disorder and mental functioning. The Blake March Lecture for 1974, delivered before the Royal College of Psychiatrists, 4 February 1974. Jancar, J. The British journal of psychiatry : the journal of mental science. (1975)
- Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning. Jeganathan, D., Fox, M.F., Young, J.M., Yates, J.R., Osborne, J.P., Povey, S. Hum. Genet. (2002)
- Preimplantation genetic diagnosis for neurofibromatosis type 1. Spits, C., De Rycke, M., Van Ranst, N., Joris, H., Verpoest, W., Lissens, W., Devroey, P., Van Steirteghem, A., Liebaers, I., Sermon, K. Mol. Hum. Reprod. (2005)
- The tuberous sclerosis complex genes in tumor development. Mak, B.C., Yeung, R.S. Cancer Invest. (2004)
- Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome. Sener, R.N. Pediatric radiology. (1994)
- Phakomatosis pigmentovascularis type IIa with generalized vitiligo. Kim, Y.C., Park, H.J., Cinn, Y.W. Br. J. Dermatol. (2002)
- Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Torrelo, A., Zambrano, A., Happle, R. Br. J. Dermatol. (2003)
- Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome. DiFazio, M.P., Levin, S., Depper, M. J. Child Neurol. (2002)
- Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis. Eng, C. Ann. N. Y. Acad. Sci. (2002)
- Costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association. Tubbs, R.S., Oakes, W.J. J. Child Neurol. (2003)