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Volumn 3, Issue 6, 1999, Pages 291-292

Central nervous system malformations: Locations of known human mutations

Author keywords

[No Author keywords available]

Indexed keywords

AGYRIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CENTRAL NERVOUS SYSTEM MALFORMATION; HOLOPROSENCEPHALY; HUMAN; PRIORITY JOURNAL; SACRUM AGENESIS; SCHIZENCEPHALY; SHORT SURVEY; TUBEROUS SCLEROSIS; X CHROMOSOME LINKED DISORDER;

EID: 0032703927     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(99)90986-8     Document Type: Note
Times cited : (4)

References (25)
  • 1
    • 0027477150 scopus 로고
    • Physical mapping of the holoprosencephaly critical region on chromosome 7q36
    • F. Gurrieri B.J. Trask G. van den Engh Physical mapping of the holoprosencephaly critical region on chromosome 7q36 Nature Genet 3 1993 247 251
    • (1993) Nature Genet , vol.3 , pp. 247-251
    • Gurrieri, F.1    Trask, B.J.2    van den Engh, G.3
  • 2
    • 0030294408 scopus 로고    scopus 로고
    • Mutations in the human Sonic hedgehog gene cause holoprosencephaly
    • E. Roessler E. Belloni K. Gaudenz Mutations in the human Sonic hedgehog gene cause holoprosencephaly Nature Genet 14 1996 357 360
    • (1996) Nature Genet , vol.14 , pp. 357-360
    • Roessler, E.1    Belloni, E.2    Gaudenz, K.3
  • 3
    • 0032567983 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
    • G.H. Vance C. Nickerson L. Sarat Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q Am J Med Genet 76 1998 51 57
    • (1998) Am J Med Genet , vol.76 , pp. 51-57
    • Vance, G.H.1    Nickerson, C.2    Sarat, L.3
  • 4
    • 0031694448 scopus 로고    scopus 로고
    • Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila oddpaired
    • S.A. Brown D. Warburton L.Y. Brown Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila oddpaired Nature Genet 20 1998 180 183
    • (1998) Nature Genet , vol.20 , pp. 180-183
    • Brown, S.A.1    Warburton, D.2    Brown, L.Y.3
  • 5
    • 0033064156 scopus 로고    scopus 로고
    • Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
    • D.E. Wallis E. Roessler U. Hehr Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly Nature Genet 22 1999 196 198
    • (1999) Nature Genet , vol.22 , pp. 196-198
    • Wallis, D.E.1    Roessler, E.2    Hehr, U.3
  • 6
    • 0027486966 scopus 로고
    • Lissencephaly: a human brain malformation associated with deletion of the LIST gene located at chromosome 17pl3
    • W.B. Dobyns O. Reiner R. Carrozzo D.H. Ledbetter Lissencephaly: a human brain malformation associated with deletion of the LIST gene located at chromosome 17pl3 J Am Med Assoc 270 1993 2838 2842
    • (1993) J Am Med Assoc , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 7
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
    • S.S. Chong S.D. Pack A.V. Roschke A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3 Hum Mol Genet 6 1997 147 155
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3
  • 8
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIST, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • C. Lo Nigro S.S. Chong A.C.M. Smith Point mutations and an intragenic deletion in LIST, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome Hum Mol Genet 6 1997 157 164
    • (1997) Hum Mol Genet , vol.6 , pp. 157-164
    • Lo Nigro, C.1    Chong, S.S.2    Smith, A.C.M.3
  • 9
    • 0031054980 scopus 로고    scopus 로고
    • Immunohistochemical expression of cell adhesion molecule Ll in hemimegalencephaly
    • A. Tsuru M. Mizuguchi K. Uyemura Immunohistochemical expression of cell adhesion molecule Ll in hemimegalencephaly Pediatr Neurol 16 1997 45 49
    • (1997) Pediatr Neurol , vol.16 , pp. 45-49
    • Tsuru, A.1    Mizuguchi, M.2    Uyemura, K.3
  • 10
    • 0030027091 scopus 로고    scopus 로고
    • Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development
    • Y.Z. Eksioglu I.E. Scheffer P. Cardena Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development Neuron 16 1996 77 87
    • (1996) Neuron , vol.16 , pp. 77-87
    • Eksioglu, Y.Z.1    Scheffer, I.E.2    Cardena, P.3
  • 11
    • 0032422555 scopus 로고    scopus 로고
    • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
    • J.W. Fox E.D. Lamperti Y.Z. Eksioglu Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia Neuron 21 1998 1315 1325
    • (1998) Neuron , vol.21 , pp. 1315-1325
    • Fox, J.W.1    Lamperti, E.D.2    Eksioglu, Y.Z.3
  • 12
    • 0029115664 scopus 로고
    • A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7836
    • A.S. Lynch P.M. Bond A.J. Copp A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7836 Nature Genet 11 1995 93 95
    • (1995) Nature Genet , vol.11 , pp. 93-95
    • Lynch, A.S.1    Bond, P.M.2    Copp, A.J.3
  • 13
    • 0030876204 scopus 로고    scopus 로고
    • Isolated sacral agenesis in a fetus monosomic for 7q36.1(qter)
    • N.M. Savage N.A. Maclachlan C.A. Joyce Isolated sacral agenesis in a fetus monosomic for 7q36.1(qter) J Med Genet 34 1997 866 868
    • (1997) J Med Genet , vol.34 , pp. 866-868
    • Savage, N.M.1    Maclachlan, N.A.2    Joyce, C.A.3
  • 14
    • 0030975567 scopus 로고    scopus 로고
    • Familial schizencephaly associated with EMX2 mutation
    • G.T. Faina F.A. Cardini L. D'Incerti Familial schizencephaly associated with EMX2 mutation Neurology 48 1997 1403 1406
    • (1997) Neurology , vol.48 , pp. 1403-1406
    • Faina, G.T.1    Cardini, F.A.2    D'Incerti, L.3
  • 15
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • J.G. Gleeson K.M. Allen J.W. Fox Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein Cell 92 1998 63 72
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3
  • 16
    • 0032965786 scopus 로고    scopus 로고
    • Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
    • J.G. Gleeson S.R. Minnerath J.W. Fox Characterization of mutations in the gene doublecortin in patients with double cortex syndrome Ann Neurol 45 1999 146 153
    • (1999) Ann Neurol , vol.45 , pp. 146-153
    • Gleeson, J.G.1    Minnerath, S.R.2    Fox, J.W.3
  • 17
    • 17444444915 scopus 로고    scopus 로고
    • A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    • V. des Portes J.M. Pinard P. Billuart A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome Cell 92 1998 51 61
    • (1998) Cell , vol.92 , pp. 51-61
    • des Portes, V.1    Pinard, J.M.2    Billuart, P.3
  • 18
    • 0029826140 scopus 로고    scopus 로고
    • Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues
    • M. Menchine J.K. Emeline P.S. Mischel Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues Modern Pathol 9 1996 1071 1080
    • (1996) Modern Pathol , vol.9 , pp. 1071-1080
    • Menchine, M.1    Emeline, J.K.2    Mischel, P.S.3
  • 19
    • 0031033220 scopus 로고    scopus 로고
    • Expression of the TSC2 product tuberin and its target Rapl in normal human tissues
    • R. Wienecke J.C. Maize Jr J.A. Reed Expression of the TSC2 product tuberin and its target Rapl in normal human tissues Am J Pathol 150 1997 43 50
    • (1997) Am J Pathol , vol.150 , pp. 43-50
    • Wienecke, R.1    Maize, J.C.2    Reed, J.A.3
  • 20
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • M. van Slegtenhorst R. de Hoogt C. Hermans Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 Science 277 1997 805 808
    • (1997) Science , vol.277 , pp. 805-808
    • van Slegtenhorst, M.1    de Hoogt, R.2    Hermans, C.3
  • 21
    • 0031726093 scopus 로고    scopus 로고
    • Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis
    • J.B. Ali T. Sepp S. Ward Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis J Med Genet 35 1998 969 972
    • (1998) J Med Genet , vol.35 , pp. 969-972
    • Ali, J.B.1    Sepp, T.2    Ward, S.3
  • 22
    • 0031888424 scopus 로고    scopus 로고
    • Germ-line mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients
    • K.S. Au J.A. Rodriguez J.L. Finch Germ-line mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients Am J Hum Genet 62 1998 286 294
    • (1998) Am J Hum Genet , vol.62 , pp. 286-294
    • Au, K.S.1    Rodriguez, J.A.2    Finch, J.L.3
  • 23
    • 0000013813 scopus 로고    scopus 로고
    • Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance
    • J. Kwiatkowska S. Jozwiak F. Hall Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance Ann Hum Genet 18 1998 9365 9375
    • (1998) Ann Hum Genet , vol.18 , pp. 9365-9375
    • Kwiatkowska, J.1    Jozwiak, S.2    Hall, F.3
  • 24
    • 0028888191 scopus 로고
    • Gene analysis of Ll neural cell adhesion molecule in prenatal diagnosis of hydrocephalus
    • M. Jouet S. Kenwrick Gene analysis of Ll neural cell adhesion molecule in prenatal diagnosis of hydrocephalus Lancet 345 1995 161 162
    • (1995) Lancet , vol.345 , pp. 161-162
    • Jouet, M.1    Kenwrick, S.2
  • 25
    • 0032411902 scopus 로고    scopus 로고
    • The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus
    • W.D. Graf D.E. Born H.B. Sarat The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus Eur J Pediatr Surg 8 Suppl 1 1998 10 14
    • (1998) Eur J Pediatr Surg , vol.8 , Issue.Suppl 1 , pp. 10-14
    • Graf, W.D.1    Born, D.E.2    Sarat, H.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.