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Volumn 99, Issue 4, 2000, Pages 425-427

A case of Miller-Dieker syndrome in a family with neurofibromatosis type I

Author keywords

Lissencephaly; Migration; Miller Dieker; Neurofibromatosis

Indexed keywords

AGYRIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN SLICE; CAFE AU LAIT SPOT; CASE REPORT; CELL MIGRATION; CESAREAN SECTION; CHROMOSOME 17; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; DEATH; EPILEPSY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GRAY MATTER; HUMAN; HUMAN CELL; HUMAN TISSUE; MILLER DIEKER SYNDROME; MUSCLE HYPOTONIA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; WHITE MATTER;

EID: 0034071093     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010051145     Document Type: Article
Times cited : (3)

References (11)
  • 1
    • 0037919879 scopus 로고
    • Pathological aspects: General
    • Churchill-Livingstone, Edinburgh
    • Crome L, Stern J (1972) Pathological aspects: general. In: Pathology of mental retardation, 2nd edn. Churchill-Livingstone, Edinburgh, pp 137-141
    • (1972) Pathology of Mental Retardation, 2nd Edn. , pp. 137-141
    • Crome, L.1    Stern, J.2
  • 3
    • 0028023599 scopus 로고
    • Miller-Diecker lissencephaly gene encodes a subunit of brain platelet-activating factor
    • Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K (1994) Miller-Dicker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 370 : 216-217
    • (1994) Nature , vol.370 , pp. 216-217
    • Hattori, M.1    Adachi, H.2    Tsujimoto, M.3    Arai, H.4    Inoue, K.5
  • 4
    • 0029090875 scopus 로고
    • Dysembryoplastic neuroepithelial tumours in two children with neurofibromatosis type 1
    • Lellouche-Tubiana A, Bourgeois M, Vekemans M, Robain O (1995) Dysembryoplastic neuroepithelial tumours in two children with neurofibromatosis type 1. Acta Neuropathol 90 : 319-322
    • (1995) Acta Neuropathol , vol.90 , pp. 319-322
    • Lellouche-Tubiana, A.1    Bourgeois, M.2    Vekemans, M.3    Robain, O.4
  • 5
    • 0027464397 scopus 로고
    • Stable inheritance of the CMTIA DNA duplication in two patients with CMT1 and NF1
    • Lupski J, Pentau L, Williams L, Patel P (1993) Stable inheritance of the CMTIA DNA duplication in two patients with CMT1 and NF1. Am J Med Genet 45 : 92-96
    • (1993) Am J Med Genet , vol.45 , pp. 92-96
    • Lupski, J.1    Pentau, L.2    Williams, L.3    Patel, P.4
  • 6
    • 0030937722 scopus 로고    scopus 로고
    • Characterisation and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene
    • Maynard J, Krawczak M, Upadhyaya M (1997) Characterisation and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99 : 674-676
    • (1997) Hum Genet , vol.99 , pp. 674-676
    • Maynard, J.1    Krawczak, M.2    Upadhyaya, M.3
  • 7
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S, Dykes D, Polesky H (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 : 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.1    Dykes, D.2    Polesky, H.3
  • 8
    • 0014172196 scopus 로고
    • The brain in multiple neurofibromatosis (Von Recklinhausen's disease): A suggested neuropathological basis for the associated mental defect
    • Rosman N, Pearce J (1967) The Brain in multiple neurofibromatosis (Von Recklinhausen's disease): a suggested neuropathological basis for the associated mental defect. Brain 90 : 829-837
    • (1967) Brain , vol.90 , pp. 829-837
    • Rosman, N.1    Pearce, J.2
  • 9
    • 0022924117 scopus 로고
    • The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis: A neuropathological study of 22 cases
    • Rubinstein L (1986) The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis: a neuropathological study of 22 cases. Ann N Y Acad Sci 486 : 14-30
    • (1986) Ann N Y Acad Sci , vol.486 , pp. 14-30
    • Rubinstein, L.1
  • 11
    • 0029035747 scopus 로고
    • Neurofibromatosis type 1: Pathology, clinical features and molecular genetics
    • Von Diemling A, Krone W, Menon A (1995) Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 5 : 153-162
    • (1995) Brain Pathol , vol.5 , pp. 153-162
    • Von Diemling, A.1    Krone, W.2    Menon, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.