-
1
-
-
0026065777
-
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy
-
Pavone L., Curatolo P., Rizzo R., Micali G., Incorpora G., Garg B.P., et al. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 1991, 41:266-271.
-
(1991)
Neurology
, vol.41
, pp. 266-271
-
-
Pavone, L.1
Curatolo, P.2
Rizzo, R.3
Micali, G.4
Incorpora, G.5
Garg, B.P.6
-
2
-
-
0027295685
-
Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review
-
Grebe T.A., Rimsza M.E., Richter S.F., Hansen R.C., Hoyme H. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. Am J Med Genet 1993, 47:24-30.
-
(1993)
Am J Med Genet
, vol.47
, pp. 24-30
-
-
Grebe, T.A.1
Rimsza, M.E.2
Richter, S.F.3
Hansen, R.C.4
Hoyme, H.5
-
3
-
-
0034855277
-
Hemimegalencephaly and linear nevus sebaceous syndrome
-
Herman T.E., Siegel M.J. Hemimegalencephaly and linear nevus sebaceous syndrome. J Perinatol 2001, 21:336-338.
-
(2001)
J Perinatol
, vol.21
, pp. 336-338
-
-
Herman, T.E.1
Siegel, M.J.2
-
4
-
-
0032910116
-
Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?
-
Hennekam R.C., Kwa V.I., van Amerongen A. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?. Clin Dysmorphol 1999, 8:111-115.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 111-115
-
-
Hennekam, R.C.1
Kwa, V.I.2
van Amerongen, A.3
-
5
-
-
0028932489
-
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome
-
Dodge N.N., Dobyns W.B. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995, 56:147-150.
-
(1995)
Am J Med Genet
, vol.56
, pp. 147-150
-
-
Dodge, N.N.1
Dobyns, W.B.2
-
6
-
-
0042706380
-
Epidermal nevus syndrome: megalencephaly with bihemispheric and cerebellar involvement: imaging and neuropathologic correlation
-
Abdelhalim A.N., Moritani T., Richfield E., Ekholm S.E., Westesson P.L. Epidermal nevus syndrome: megalencephaly with bihemispheric and cerebellar involvement: imaging and neuropathologic correlation. J Comput Assist Tomogr 2003, 27:534-537.
-
(2003)
J Comput Assist Tomogr
, vol.27
, pp. 534-537
-
-
Abdelhalim, A.N.1
Moritani, T.2
Richfield, E.3
Ekholm, S.E.4
Westesson, P.L.5
-
7
-
-
70349772941
-
Epidermal nevus syndrome: an unusual cerebellar involvement
-
Pereira S., Serra D., Freitas P.M., Santiago D., Brito O. Epidermal nevus syndrome: an unusual cerebellar involvement. J Neuroradiol 2009, 36:237-239.
-
(2009)
J Neuroradiol
, vol.36
, pp. 237-239
-
-
Pereira, S.1
Serra, D.2
Freitas, P.M.3
Santiago, D.4
Brito, O.5
-
8
-
-
33644998123
-
Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip
-
Fink A.J., Englund C., Daza R.A., Pham D., Lau C., Nivison M., et al. Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip. J Neurosci 2006, 26:3066-3076.
-
(2006)
J Neurosci
, vol.26
, pp. 3066-3076
-
-
Fink, A.J.1
Englund, C.2
Daza, R.A.3
Pham, D.4
Lau, C.5
Nivison, M.6
-
9
-
-
33748456214
-
Congenital medulloblastoma
-
Ermis B., Aydemir C., Taspinar O., Cagavi F., Bahadir B., Ozdemir H. Congenital medulloblastoma. Arch Dis Child Fetal Neonatal Ed 2006, 91:F373.
-
(2006)
Arch Dis Child Fetal Neonatal Ed
, vol.91
-
-
Ermis, B.1
Aydemir, C.2
Taspinar, O.3
Cagavi, F.4
Bahadir, B.5
Ozdemir, H.6
-
10
-
-
0027194928
-
Neonatal medulloblastoma
-
Kayama T., Yoshimoto T., Shimizu H., Sakurai Y. Neonatal medulloblastoma. J Neurooncol 1993, 15:157-163.
-
(1993)
J Neurooncol
, vol.15
, pp. 157-163
-
-
Kayama, T.1
Yoshimoto, T.2
Shimizu, H.3
Sakurai, Y.4
-
11
-
-
34548069945
-
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern
-
Hafner C., López-Knowles E., Luis N.M., Toll A., Baselga E., Fernández-Casado A., et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 2007, 104:13450-13454.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13450-13454
-
-
Hafner, C.1
López-Knowles, E.2
Luis, N.M.3
Toll, A.4
Baselga, E.5
Fernández-Casado, A.6
-
12
-
-
33746754183
-
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
-
Hafner C., van Oers J.M., Vogt T., Landthaler M., Stoehr R., Blaszyk H., et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006, 116:2201-2207.
-
(2006)
J Clin Invest
, vol.116
, pp. 2201-2207
-
-
Hafner, C.1
van Oers, J.M.2
Vogt, T.3
Landthaler, M.4
Stoehr, R.5
Blaszyk, H.6
-
13
-
-
78649620521
-
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma
-
Bourdeaut F., Hérault A., Gentien D., Pierron G., Ballet S., Reynaud S., et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010, 47:859-862.
-
(2010)
J Med Genet
, vol.47
, pp. 859-862
-
-
Bourdeaut, F.1
Hérault, A.2
Gentien, D.3
Pierron, G.4
Ballet, S.5
Reynaud, S.6
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