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Volumn 1, Issue 4, 1999, Pages 136-140

Structural anomalies reveajed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BRAIN; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETICS; HUMAN; INTELLIGENCE TEST; MALE; MENTAL DEFICIENCY; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

EID: 0033123544     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-199905000-00004     Document Type: Article
Times cited : (31)

References (22)
  • 2
    • 0028307561 scopus 로고
    • Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities
    • North K, Joy P, Yuille D, Cocks N, Mobbs E, Hutchins P, McHugh K, de Suva M. Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities. Neurology 1994;44:878-883.
    • (1994) Neurology , vol.44 , pp. 878-883
    • North, K.1    Joy, P.2    Yuille, D.3    Cocks, N.4    Mobbs, E.5    Hutchins, P.6    McHugh, K.7    De Suva, M.8
  • 4
    • 0028280567 scopus 로고
    • Neurofibromatosis type I in childhood: A study of the neuropsychological profile in 45 children
    • Legius E, Descheemaeker MJ, Spaepen A, Casaer P, Fryns JP. Neurofibromatosis type I in childhood: A study of the neuropsychological profile in 45 children. Genet Couns 1994;5:51-60.
    • (1994) Genet Couns , vol.5 , pp. 51-60
    • Legius, E.1    Descheemaeker, M.J.2    Spaepen, A.3    Casaer, P.4    Fryns, J.P.5
  • 5
    • 0030937491 scopus 로고    scopus 로고
    • Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 cognitive disorders task force
    • North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB. Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 cognitive disorders task force. Neurology 1997;48:1121-1127.
    • (1997) Neurology , vol.48 , pp. 1121-1127
    • North, K.N.1    Riccardi, V.2    Samango-Sprouse, C.3    Ferner, R.4    Moore, B.5    Legius, E.6    Ratner, N.7    Denckla, M.B.8
  • 6
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988;111:1355-1381.
    • (1988) Brain , vol.111 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.S.3
  • 7
    • 0018604894 scopus 로고
    • Penetrance and variability in neurofibromatosis: A genetic study of 60 families
    • Carey JC, Laub JM, Hall BD. Penetrance and variability in neurofibromatosis: A genetic study of 60 families. Birth Defects: Original Article Series 1979;15, No. 56:271-281.
    • (1979) Birth Defects: Original Article Series , vol.15 , Issue.56 , pp. 271-281
    • Carey, J.C.1    Laub, J.M.2    Hall, B.D.3
  • 8
    • 0014172196 scopus 로고
    • The brain in multiple neurofibromatosis (von Recklinghausen's disease): A suggested neuropathological basis for the associated mental defect
    • Rosman NP, Pearce J. The brain in multiple neurofibromatosis (von Recklinghausen's disease): A suggested neuropathological basis for the associated mental defect. Brain 1967;90:829-838.
    • (1967) Brain , vol.90 , pp. 829-838
    • Rosman, N.P.1    Pearce, J.2
  • 9
    • 0027460345 scopus 로고
    • Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development
    • Daston MM, Ratner N. Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn 1993;195:216-226.
    • (1993) Dev Dyn , vol.195 , pp. 216-226
    • Daston, M.M.1    Ratner, N.2
  • 10
    • 0026603826 scopus 로고
    • The protein product of the neurofibromatosis type I gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes
    • Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N. The protein product of the neurofibromatosis type I gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 1992;8:415-428.
    • (1992) Neuron , vol.8 , pp. 415-428
    • Daston, M.M.1    Scrable, H.2    Nordlund, M.3    Sturbaum, A.K.4    Nissen, L.M.5    Ratner, N.6
  • 11
    • 0030016355 scopus 로고    scopus 로고
    • MRI findings in children with neurofibromatosis type 1: A prospective study
    • Es SV, North KN, McHugh K, Suva MD. MRI findings in children with neurofibromatosis type 1: A prospective study. Pediatr Radiol 1996;26:478-487.
    • (1996) Pediatr Radiol , vol.26 , pp. 478-487
    • Es, S.V.1    North, K.N.2    McHugh, K.3    Suva, M.D.4
  • 13
    • 0029938960 scopus 로고    scopus 로고
    • Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type I
    • Terada H, Barkovich AJ, Edwards MS, Ciricillo SM. Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type I. Am J Neuroradiol 1996;17:755-760.
    • (1996) Am J Neuroradiol , vol.17 , pp. 755-760
    • Terada, H.1    Barkovich, A.J.2    Edwards, M.S.3    Ciricillo, S.M.4
  • 14
    • 0024538478 scopus 로고
    • The significance of MRI 1 abnormalities in children with neurofibromatosis
    • Duffner PK, Cohen ME, Seidel FG, Shucard DW. The significance of MRI 1 abnormalities in children with neurofibromatosis. Neurology 1989;39:373-378.
    • (1989) Neurology , vol.39 , pp. 373-378
    • Duffner, P.K.1    Cohen, M.E.2    Seidel, F.G.3    Shucard, D.W.4
  • 17
    • 0027276978 scopus 로고
    • MRI in neurofibromatosis 1. the nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment
    • Ferner RE, Chaudhuri R, Bingham I, Cox T, Hughes RA. MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 1993;56:492-495.
    • (1993) J Neurol Neurosurg Psychiatry , vol.56 , pp. 492-495
    • Ferner, R.E.1    Chaudhuri, R.2    Bingham, I.3    Cox, T.4    Hughes, R.A.5
  • 19
    • 0030783781 scopus 로고    scopus 로고
    • Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata
    • Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K. Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am I Med Genet 1997;73:197-204.
    • (1997) Am I Med Genet , vol.73 , pp. 197-204
    • Leppig, K.A.1    Kaplan, P.2    Viskochil, D.3    Weaver, M.4    Ortenberg, J.5    Stephens, K.6
  • 21
    • 0028799029 scopus 로고
    • Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations
    • Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR. Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations. Am J Med Genet 1995;59:528-535.
    • (1995) Am J Med Genet , vol.59 , pp. 528-535
    • Wu, B.L.1    Austin, M.A.2    Schneider, G.H.3    Boles, R.G.4    Korf, B.R.5
  • 22
    • 0031039550 scopus 로고    scopus 로고
    • Deletion of the entire NF1 gene causing distinct manifestations in a family
    • Wu BL, Schneider GH, Korf BR. Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet 1997;69:98-101.
    • (1997) Am J Med Genet , vol.69 , pp. 98-101
    • Wu, B.L.1    Schneider, G.H.2    Korf, B.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.