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Volumn 15, Issue 6, 2000, Pages 401-405

Agenesis of corpus callosum: Clinical description and etiology

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AICARDI SYNDROME; ARTICLE; BRAIN HEMORRHAGE; CHILD; CHROMOSOME 10Q; CHROMOSOME DUPLICATION; CORPUS CALLOSUM AGENESIS; DANDY WALKER SYNDROME; FACE DYSMORPHIA; FEMALE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL TRISOMY 13; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE;

EID: 0034101182     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500609     Document Type: Article
Times cited : (40)

References (28)
  • 1
    • 0001533636 scopus 로고
    • Malformations of the CNS
    • Aicardi J (ed): London, Mac Keith Press
    • Aicardi J: Malformations of the CNS, in Aicardi J (ed): Diseases of the Nervous System in Childhood. London, Mac Keith Press, 1992, pp 108-202.
    • (1992) Diseases of the Nervous System in Childhood , pp. 108-202
    • Aicardi, J.1
  • 2
    • 0031982125 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum: A United Kingdom series of 56 cases
    • Taylor M, David AS: Agenesis of the corpus callosum: A United Kingdom series of 56 cases. J Neurol Neurosurg Psychiatry 1998; 64:131-134.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 131-134
    • Taylor, M.1    David, A.S.2
  • 3
    • 0002846655 scopus 로고
    • Neural tube formation and prosencephalic development
    • Volpe JJ (ed): London, WB Saunders
    • Volpe JJ: Neural tube formation and prosencephalic development, in Volpe JJ (ed): Neurology of the Newborn, 3rd ed. London, WB Saunders, 1995, pp 3-42.
    • (1995) Neurology of the Newborn, 3rd Ed. , pp. 3-42
    • Volpe, J.J.1
  • 5
  • 7
    • 0030858735 scopus 로고    scopus 로고
    • CRASH syndrome: Mutations in L1CAM correlate with severity of the disease
    • Yamasaki M, Thompson P, Lemmon V: CRASH syndrome: Mutations in L1CAM correlate with severity of the disease. Neuropediatrics 1997;28:175-178.
    • (1997) Neuropediatrics , vol.28 , pp. 175-178
    • Yamasaki, M.1    Thompson, P.2    Lemmon, V.3
  • 8
    • 0028282618 scopus 로고
    • Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum
    • Vergani P, Ghidini A, Strobelt N, et al: Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. Am J Obstet Gynecol 1994;170:753-758.
    • (1994) Am J Obstet Gynecol , vol.170 , pp. 753-758
    • Vergani, P.1    Ghidini, A.2    Strobelt, N.3
  • 9
    • 0027310580 scopus 로고
    • Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis
    • De Meirleir L, Lissens W, Denis R, et al: Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis. Pediatr Neurol 1993;9:216-220.
    • (1993) Pediatr Neurol , vol.9 , pp. 216-220
    • De Meirleir, L.1    Lissens, W.2    Denis, R.3
  • 11
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy: Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 12
    • 0026467686 scopus 로고
    • Agenesis of the corpus callosum and epilepsy in two brothers. Neurophysiological and MRI features
    • Luef G, Birbamer G, Marosi M, et al: Agenesis of the corpus callosum and epilepsy in two brothers. Neurophysiological and MRI features. Wien Klin Wochenschr 1992;104:301-304.
    • (1992) Wien Klin Wochenschr , vol.104 , pp. 301-304
    • Luef, G.1    Birbamer, G.2    Marosi, M.3
  • 13
    • 0028700950 scopus 로고
    • Electroencephalography in congenital malformations of the central nervous system
    • Campos P, Cruz G, Lizarraga R, et al: Electroencephalography in congenital malformations of the central nervous system. Arq Neuropsiquiatr 1994;52:515-522.
    • (1994) Arq Neuropsiquiatr , vol.52 , pp. 515-522
    • Campos, P.1    Cruz, G.2    Lizarraga, R.3
  • 15
    • 0027768994 scopus 로고
    • Aicardi syndrome: A variant example with new clinical findings
    • Gedik Y, Erduran E, Aslan Y, et al: Aicardi syndrome: A variant example with new clinical findings. Genet Couns 1993;4:281-283.
    • (1993) Genet Couns , vol.4 , pp. 281-283
    • Gedik, Y.1    Erduran, E.2    Aslan, Y.3
  • 16
    • 0030884932 scopus 로고    scopus 로고
    • Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome
    • Hoag HM, Taylor SA, Duncan AM, Khalifa MM: Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. Hum Genet 1997;100:459-464.
    • (1997) Hum Genet , vol.100 , pp. 459-464
    • Hoag, H.M.1    Taylor, S.A.2    Duncan, A.M.3    Khalifa, M.M.4
  • 17
    • 0030886963 scopus 로고    scopus 로고
    • Aicardi syndrome and acquired retinal detachment
    • Kleiner A, Clemens S: Aicardi syndrome and acquired retinal detachment. Klin Monatsbl Augenheilkd 1997;210:116-118.
    • (1997) Klin Monatsbl Augenheilkd , vol.210 , pp. 116-118
    • Kleiner, A.1    Clemens, S.2
  • 18
    • 85037965766 scopus 로고
    • 8p duplication region associated with agenesis/hypoplasia of corpus callosum
    • Report of the Second International Workshop on Human Chromosome 8 Mapping 1994, abstract
    • Zuffardi O, Floridia G, Piantanida M, et al: 8p duplication region associated with agenesis/hypoplasia of corpus callosum. Report of the Second International Workshop on Human Chromosome 8 Mapping 1994, abstract. Cytogenet Cell Genet 1995;68:164.
    • (1995) Cytogenet Cell Genet , vol.68 , pp. 164
    • Zuffardi, O.1    Floridia, G.2    Piantanida, M.3
  • 19
    • 0028876309 scopus 로고
    • CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene L1
    • Fransen E, Lemmon V, Van Camp G, et al: CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene L1. Eur J Hum Genet 1995;3:273-278.
    • (1995) Eur J Hum Genet , vol.3 , pp. 273-278
    • Fransen, E.1    Lemmon, V.2    Van Camp, G.3
  • 20
    • 0030858735 scopus 로고    scopus 로고
    • CRASH syndrome: Mutations in L1CAM correlate with severity of the disease
    • Yamasaki M, Thompson P, Lemmon V: CRASH syndrome: Mutations in L1CAM correlate with severity of the disease. Neuropediatrics 1997;28:175-178.
    • (1997) Neuropediatrics , vol.28 , pp. 175-178
    • Yamasaki, M.1    Thompson, P.2    Lemmon, V.3
  • 22
    • 0027974140 scopus 로고
    • A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of corpus callosum
    • Genuardi M, Calvieri V, Tozzi C, et al: A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of corpus callosum. Clin Dysmorphol 1994;3:292-296.
    • (1994) Clin Dysmorphol , vol.3 , pp. 292-296
    • Genuardi, M.1    Calvieri, V.2    Tozzi, C.3
  • 23
    • 0027076730 scopus 로고
    • The Wolf-Hirschhorn syndrome in fetuses
    • Tachdjian G, Fondacci C, Tapia S, et al: The Wolf-Hirschhorn syndrome in fetuses. Clin Genet 1992;42:281-287.
    • (1992) Clin Genet , vol.42 , pp. 281-287
    • Tachdjian, G.1    Fondacci, C.2    Tapia, S.3
  • 24
    • 0029874862 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting
    • Rubtsov N, Senger G, Kuzcera H, et al: Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting. Hum Genet 1996;97:705-709.
    • (1996) Hum Genet , vol.97 , pp. 705-709
    • Rubtsov, N.1    Senger, G.2    Kuzcera, H.3
  • 25
    • 0027200492 scopus 로고
    • Monosomy 11q: Report of two familial cases and review of the literature
    • Hustinx R, Verloes A, Grattagliano B, et al: Monosomy 11q: Report of two familial cases and review of the literature. Am J Med Genet 1993;47:312-317.
    • (1993) Am J Med Genet , vol.47 , pp. 312-317
    • Hustinx, R.1    Verloes, A.2    Grattagliano, B.3
  • 26
    • 0028277332 scopus 로고
    • Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
    • Courtens W, Petersen MB, Noel 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    Noel, J.C.3
  • 27
    • 0030835283 scopus 로고    scopus 로고
    • Monozygotic twins discordant for Aicardi syndrome
    • Costa T, Greer W, Rysiecki G, et al: Monozygotic twins discordant for Aicardi syndrome. J Med Genet 1997;34:688-691.
    • (1997) J Med Genet , vol.34 , pp. 688-691
    • Costa, T.1    Greer, W.2    Rysiecki, G.3
  • 28
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • Brunelli S, Faiella A, Capra V, et al: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996;12:94-96.
    • (1996) Nat Genet , vol.12 , pp. 94-96
    • Brunelli, S.1    Faiella, A.2    Capra, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.