메뉴 건너뛰기




Volumn 61, Issue 2, 1997, Pages 379-387

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0030826427     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514863     Document Type: Article
Times cited : (79)

References (35)
  • 2
    • 0026567180 scopus 로고
    • Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations
    • Barkovich AJ, Kjos BO (1992) Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 182:493-499
    • (1992) Radiology , vol.182 , pp. 493-499
    • Barkovich, A.J.1    Kjos, B.O.2
  • 5
    • 85030298671 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia (BPNH) with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome
    • in press
    • Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont MEM, Breningstall G, Tock DH, Bonanni P, et al. Bilateral periventricular nodular heterotopia (BPNH) with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology (in press)
    • Neurology
    • Dobyns, W.B.1    Guerrini, R.2    Czapansky-Beilman, D.K.3    Mem, P.4    Breningstall, G.5    Tock, D.H.6    Bonanni, P.7
  • 6
    • 0029000061 scopus 로고
    • Lissencephaly and other malformations of cortical development: 1995 update
    • Dobyns WB, Truwit CL (1995) Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 26:132-148
    • (1995) Neuropediatrics , vol.26 , pp. 132-148
    • Dobyns, W.B.1    Truwit, C.L.2
  • 7
    • 0028856316 scopus 로고
    • Periventricular and subcortical nodular heterotopia: A study of 33 patients
    • Dubeau F, Tampieri D, Lee N (1995) Periventricular and subcortical nodular heterotopia: a study of 33 patients. Brain 118:1273-1287
    • (1995) Brain , vol.118 , pp. 1273-1287
    • Dubeau, F.1    Tampieri, D.2    Lee, N.3
  • 8
    • 0030027091 scopus 로고    scopus 로고
    • Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
    • Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, et al (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77-87
    • (1996) Neuron , vol.16 , pp. 77-87
    • Eksioglu, Y.Z.1    Scheffer, I.E.2    Cardenas, P.3    Knoll, J.4    DiMario, F.5    Ramsby, G.6    Berg, M.7
  • 9
    • 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, Vits L, Coucke P, Willems PJ (1995) 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 3:273-284
    • (1995) Eur J Hum Genet , vol.3 , pp. 273-284
    • Fransen, E.1    Lemmon, V.2    Van Camp, G.3    Vits, L.4    Coucke, P.5    Willems, P.J.6
  • 11
    • 0026010655 scopus 로고
    • Molecular structure and functional testing of human L1CAM: An interspecies comparison
    • Hlavin ML, Lemmon V (1991) Molecular structure and functional testing of human L1CAM: an interspecies comparison. Genomics 11:416-423
    • (1991) Genomics , vol.11 , pp. 416-423
    • Hlavin, M.L.1    Lemmon, V.2
  • 13
    • 0027215439 scopus 로고
    • Familial periventricular nodular heterotopia
    • Kamuro K, Tenokuchi Y (1993) Familial periventricular nodular heterotopia. Brain Dev 15:237-241
    • (1993) Brain Dev , vol.15 , pp. 237-241
    • Kamuro, K.1    Tenokuchi, Y.2
  • 14
    • 0027032834 scopus 로고
    • Preparing and using agarose microbeads
    • Koob M, Szybalski W (1992) Preparing and using agarose microbeads. Methods Enzymol 216:13-20
    • (1992) Methods Enzymol , vol.216 , pp. 13-20
    • Koob, M.1    Szybalski, W.2
  • 15
    • 0028091740 scopus 로고
    • Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- Karyotype
    • Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC (1994) Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. Nat Genet 8:243-250
    • (1994) Nat Genet , vol.8 , pp. 243-250
    • Lahn, B.T.1    Ma, N.2    Breg, W.R.3    Stratton, R.4    Surti, U.5    Page, D.C.6
  • 16
    • 0002023195 scopus 로고
    • Harvesting, slide-making, and chromosome elongation techniques
    • Barch MJ (ed) Raven Press, New York
    • Lawce HJ, Brown MG (1991) Harvesting, slide-making, and chromosome elongation techniques. In: Barch MJ (ed) The ACT cytogenetics laboratory manual, 2d ed. Raven Press, New York, pp 31-66
    • (1991) The ACT Cytogenetics Laboratory Manual, 2d Ed. , pp. 31-66
    • Lawce, H.J.1    Brown, M.G.2
  • 17
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13:826-828
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 19
    • 0029132035 scopus 로고
    • Fibroblast-growth-factor receptor mutations in human skeletal disorders
    • Muenke M, Schell U (1995) Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 11:308-313
    • (1995) Trends Genet , vol.11 , pp. 308-313
    • Muenke, M.1    Schell, U.2
  • 21
    • 0017049228 scopus 로고
    • Syndrome familial associant grele court, malroration intestinale, hypertrophie du pylore et malformation cerebrale
    • Nezelof C, Jaubert F, Lyon G (1976) Syndrome familial associant grele court, malroration intestinale, hypertrophie du pylore et malformation cerebrale. Ann Anat Pathol 21:401-412
    • (1976) Ann Anat Pathol , vol.21 , pp. 401-412
    • Nezelof, C.1    Jaubert, F.2    Lyon, G.3
  • 25
  • 27
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, et al (1993) Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3    Kulpa, D.A.4    Wise, C.A.5    Mueller, J.6    Welcher, A.A.7
  • 28
    • 0029024347 scopus 로고
    • Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families
    • Schrander-Stumpel C, Howeler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, et al (1995) Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): clinical review with six additional families. Am J Med Genet 57:107-116
    • (1995) Am J Med Genet , vol.57 , pp. 107-116
    • Schrander-Stumpel, C.1    Howeler, C.2    Jones, M.3    Sommer, A.4    Stevens, C.5    Tinschert, S.6    Israel, J.7
  • 29
    • 0002461619 scopus 로고
    • Development of the human central nervous system
    • Haymaker W, Adams RD (eds) Charles C Thomas, Springfield, IL
    • Sidman RL, Rakic P (1982) Development of the human central nervous system. In: Haymaker W, Adams RD (eds) Histology and histopathology of the nervous system. Charles C Thomas, Springfield, IL, pp 3-45
    • (1982) Histology and Histopathology of the Nervous System , pp. 3-45
    • Sidman, R.L.1    Rakic, P.2
  • 30
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type IA duplication
    • Timmerman V, Nelis E, Hul WV, Nieuwenhuijsen BW, Chen KL, Wang S, Othman KB, et al (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type IA duplication. Nat Genet 1:171-175
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Hul, W.V.3    Nieuwenhuijsen, B.W.4    Chen, K.L.5    Wang, S.6    Othman, K.B.7
  • 31
    • 0026017360 scopus 로고
    • Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei
    • Trask BJ, Massa H, Kenwrick S, Gitschier J (1991) Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet 48:1-15
    • (1991) Am J Hum Genet , vol.48 , pp. 1-15
    • Trask, B.J.1    Massa, H.2    Kenwrick, S.3    Gitschier, J.4
  • 34
  • 35
    • 0017258328 scopus 로고
    • High resolution of human chromosomes
    • Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268-1270
    • (1976) Science , vol.191 , pp. 1268-1270
    • Yunis, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.