메뉴 건너뛰기




Volumn 54, Issue 1, 1997, Pages 61-64

A new family with periventricular nodular heterotopia and peculiar dysmorphic features: A probable X-linked dominant trait

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FACE DYSMORPHIA; FEMALE; HETEROTOPIA; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; RECTUM POLYP; SEIZURE; SYNDROME DELINEATION; URINARY TRACT MALFORMATION; X CHROMOSOME DOMINANT DISORDER;

EID: 0031039091     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.1997.00550130045014     Document Type: Article
Times cited : (11)

References (18)
  • 4
    • 0027458874 scopus 로고
    • New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death
    • Gustavson KH, Annerén G, Malmgren H, Dahin N, Ljiunggren CG, Backman H. New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. Am J Med Genet. 1993;45:654-658.
    • (1993) Am J Med Genet , vol.45 , pp. 654-658
    • Gustavson, K.H.1    Annerén, G.2    Malmgren, H.3    Dahin, N.4    Ljiunggren, C.G.5    Backman, H.6
  • 5
    • 0028155980 scopus 로고
    • Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorders in two brothers: A new syndrome?
    • Feigenbaum A, Bergeron C, Richardson R, Wherret J, Robinson B, Weksberg R. Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorders in two brothers: a new syndrome? Am J Med Genet. 1994;49:118-124.
    • (1994) Am J Med Genet , vol.49 , pp. 118-124
    • Feigenbaum, A.1    Bergeron, C.2    Richardson, R.3    Wherret, J.4    Robinson, B.5    Weksberg, R.6
  • 6
    • 0028295153 scopus 로고
    • Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tonz syndrome?
    • Guazzi G, Palmer S, Malandrini A, et al. Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tonz syndrome? Am J Med Genet. 1994;50:79-83.
    • (1994) Am J Med Genet , vol.50 , pp. 79-83
    • Guazzi, G.1    Palmer, S.2    Malandrini, A.3
  • 7
    • 0028902294 scopus 로고
    • A further family with epilepsy, dementia and yellow teeth: The Kohlschütter syndrome
    • Musumeci SA, Elia M, Ferri R, Romano C, Scuderi C, Del Gracco S. A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. Brain Dev. 1995;17:133-138.
    • (1995) Brain Dev , vol.17 , pp. 133-138
    • Musumeci, S.A.1    Elia, M.2    Ferri, R.3    Romano, C.4    Scuderi, C.5    Del Gracco, S.6
  • 9
    • 0027312620 scopus 로고
    • Familial band heterotopias simulating tuberous sclerosis
    • DiMario FJ, Cobb RJ, Ramsby GR, Leicher C. Familial band heterotopias simulating tuberous sclerosis. Neurology. 1993;43:1424-1426.
    • (1993) Neurology , vol.43 , pp. 1424-1426
    • DiMario, F.J.1    Cobb, R.J.2    Ramsby, G.R.3    Leicher, C.4
  • 11
    • 0028277332 scopus 로고
    • Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
    • Courtens W, Petersen MB, Noël JC, et al. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies. Am J Med Genet. 1994;51:260-265.
    • (1994) Am J Med Genet , vol.51 , pp. 260-265
    • Courtens, W.1    Petersen, M.B.2    Noël, J.C.3
  • 12
    • 0020518999 scopus 로고
    • Computed tomography in migratory disorders of human brain development
    • Zimmerman RA, Bilaniuk LT, Grossman RI. Computed tomography in migratory disorders of human brain development. Neuroradiology. 1983;25:257-263.
    • (1983) Neuroradiology , vol.25 , pp. 257-263
    • Zimmerman, R.A.1    Bilaniuk, L.T.2    Grossman, R.I.3
  • 13
    • 0023122493 scopus 로고
    • Disorders of neuronal migration
    • Barth PG. Disorders of neuronal migration. Can J Neurol Sci. 1987;14:1-16.
    • (1987) Can J Neurol Sci , vol.14 , pp. 1-16
    • Barth, P.G.1
  • 16
    • 0021368047 scopus 로고
    • Neuropathological findings in primary generalized epilepsy: A study of eight cases
    • Meencke HJ, Janz D. Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia. 1984;25:8-21.
    • (1984) Epilepsia , vol.25 , pp. 8-21
    • Meencke, H.J.1    Janz, D.2
  • 17
    • 0025734430 scopus 로고
    • The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
    • Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol. 1991;30: 139-146.
    • (1991) Ann Neurol , vol.30 , pp. 139-146
    • Barkovich, A.J.1    Koch, T.K.2    Carrol, C.L.3
  • 18
    • 0018200078 scopus 로고
    • Recent advances in the phakomatoses
    • Person JR, Perry HO. Recent advances in the phakomatoses. Int J Dermatol. 1978;17:1-13.
    • (1978) Int J Dermatol , vol.17 , pp. 1-13
    • Person, J.R.1    Perry, H.O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.