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Volumn 124, Issue 1, 2008, Pages 73-80

Chromosomal map of human brain malformations

Author keywords

[No Author keywords available]

Indexed keywords

AGYRIA; ANENCEPHALUS; ARNOLD CHIARI MALFORMATION; ARTICLE; AUTOSOMAL DISORDER; BRAIN AQUEDUCT STENOSIS; BRAIN MALFORMATION; CEREBELLUM DISEASE; CHROMOSOME ABERRATION; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CORPUS CALLOSUM AGENESIS; CYCLOPIA; DANDY WALKER SYNDROME; ENCEPHALOCELE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC DATABASE; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; MENINGOCELE; NEURAL TUBE DEFECT; PACHYGYRIA; PHENOTYPE; PRIORITY JOURNAL; SCHIZENCEPHALY; SPINA BIFIDA;

EID: 46949096772     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0528-2     Document Type: Article
Times cited : (11)

References (62)
  • 1
  • 2
    • 46949100005 scopus 로고    scopus 로고
    • Congenital malformations of the nervous system
    • In: Panteliadis C, Darras B (eds) Thessaloniki
    • Arvanitis D (1999) Congenital malformations of the nervous system. In: Panteliadis C, Darras B (eds) Encyclopaedia of peadiatric neurology, Thessaloniki
    • (1999) Encyclopaedia of Peadiatric Neurology
    • Arvanitis, D.1
  • 3
    • 0347916881 scopus 로고    scopus 로고
    • Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists
    • Avsian-Kretchmer O, Hsueh AJ (2004) Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists. Mol Endocrinol 18:1-12
    • (2004) Mol Endocrinol , vol.18 , pp. 1-12
    • Avsian-Kretchmer, O.1    Hsueh, A.J.2
  • 8
    • 0033361899 scopus 로고    scopus 로고
    • A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - And tolerance of segmental aneuploidy - In humans
    • Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1999) A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 64:1702-1708
    • (1999) Am J Hum Genet , vol.64 , pp. 1702-1708
    • Brewer, C.1    Holloway, S.2    Zawalnyski, P.3    Schinzel, A.4    FitzPatrick, D.5
  • 9
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
    • Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993) Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59
    • (1993) Am J Med Genet , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane-Yeboa, K.3    Warburton, D.4
  • 11
    • 37249038572 scopus 로고    scopus 로고
    • Status of the human malformation map: 2007
    • Carey JC, Viskochil DH (2007) Status of the human malformation map: 2007. Am J Med Genet A 143:2868-2885
    • (2007) Am J Med Genet A , vol.143 , pp. 2868-2885
    • Carey, J.C.1    Viskochil, D.H.2
  • 13
    • 0035888111 scopus 로고    scopus 로고
    • Problems in the definition of holoprosencephaly
    • Cohen MM Jr (2001) Problems in the definition of holoprosencephaly. Am J Med Genet 103:183-187
    • (2001) Am J Med Genet , vol.103 , pp. 183-187
    • Cohen Jr., M.M.1
  • 15
    • 0029655911 scopus 로고    scopus 로고
    • Absence makes the search grow longer
    • Dobyns WB (1996) Absence makes the search grow longer. Am J Hum Genet 58:7-16
    • (1996) Am J Hum Genet , vol.58 , pp. 7-16
    • Dobyns, W.B.1
  • 16
    • 0041319265 scopus 로고    scopus 로고
    • FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications
    • Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL (2003) FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications. Am J Med Genet A 117:251-254
    • (2003) Am J Med Genet A , vol.117 , pp. 251-254
    • Gentile, M.1    Di Carlo, A.2    Volpe, P.3    Pansini, A.4    Nanna, P.5    Valenzano, M.C.6    Buonadonna, A.L.7
  • 17
    • 15844421228 scopus 로고    scopus 로고
    • The ZIC gene family in development and disease
    • Grinberg I, Millen KJ (2005) The ZIC gene family in development and disease. Clin Genet 67:290-296
    • (2005) Clin Genet , vol.67 , pp. 290-296
    • Grinberg, I.1    Millen, K.J.2
  • 18
    • 6944220087 scopus 로고    scopus 로고
    • Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
    • Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ (2004) Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet 36:1053-1055
    • (2004) Nat Genet , vol.36 , pp. 1053-1055
    • Grinberg, I.1    Northrup, H.2    Ardinger, H.3    Prasad, C.4    Dobyns, W.B.5    Millen, K.J.6
  • 20
    • 0035280521 scopus 로고    scopus 로고
    • Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43
    • Halford S, Freedman MS, Bellingham J, Inglis SL, Poopalasundaram S, Soni BG, Foster RG, Hunt DM (2001) Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43. Genomics 72:203-208
    • (2001) Genomics , vol.72 , pp. 203-208
    • Halford, S.1    Freedman, M.S.2    Bellingham, J.3    Inglis, S.L.4    Poopalasundaram, S.5    Soni, B.G.6    Foster, R.G.7    Hunt, D.M.8
  • 21
    • 23244447637 scopus 로고    scopus 로고
    • BT-IgSF, a novel immunoglobulin superfamily protein, functions as a cell adhesion molecule
    • Harada H, Suzu S, Hayashi Y, Okada S (2005) BT-IgSF, a novel immunoglobulin superfamily protein, functions as a cell adhesion molecule. J Cell Physiol 204:919-926
    • (2005) J Cell Physiol , vol.204 , pp. 919-926
    • Harada, H.1    Suzu, S.2    Hayashi, Y.3    Okada, S.4
  • 23
    • 0024418401 scopus 로고
    • Tandem Y/6 translocation with partial deletion 6 (p23-pter)
    • Kelly PC, Blake WW, Davis JR (1989) Tandem Y/6 translocation with partial deletion 6 (p23-pter). Clin Genet 36:204-207
    • (1989) Clin Genet , vol.36 , pp. 204-207
    • Kelly, P.C.1    Blake, W.W.2    Davis, J.R.3
  • 24
    • 0036550633 scopus 로고    scopus 로고
    • Expression of WRCH1 in human cancer and down-regulation of WRCH1 by beta-estradiol in MCF-7 cells
    • Kirikoshi H, Katoh M (2002) Expression of WRCH1 in human cancer and down-regulation of WRCH1 by beta-estradiol in MCF-7 cells. Int J Oncol 20:777-783
    • (2002) Int J Oncol , vol.20 , pp. 777-783
    • Kirikoshi, H.1    Katoh, M.2
  • 26
    • 0004293174 scopus 로고    scopus 로고
    • 3rd edn. Churchill Livingstone, New York
    • Larsen W (2001) Human embryology, 3rd edn. Churchill Livingstone, New York
    • (2001) Human Embryology
    • Larsen, W.1
  • 27
    • 33748549597 scopus 로고    scopus 로고
    • Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum
    • Lawson-Yuen A, Berend SA, Soul JS, Irons M (2006) Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol 15:217-220
    • (2006) Clin Dysmorphol , vol.15 , pp. 217-220
    • Lawson-Yuen, A.1    Berend, S.A.2    Soul, J.S.3    Irons, M.4
  • 28
    • 0034191965 scopus 로고    scopus 로고
    • Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system
    • Leader B, Leder P (2000) Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system. Mech Dev 93:221-231
    • (2000) Mech Dev , vol.93 , pp. 221-231
    • Leader, B.1    Leder, P.2
  • 29
    • 0026518338 scopus 로고
    • Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
    • Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH (1992) Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 50:182-189
    • (1992) Am J Hum Genet , vol.50 , pp. 182-189
    • Ledbetter, S.A.1    Kuwano, A.2    Dobyns, W.B.3    Ledbetter, D.H.4
  • 31
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164
    • (1997) Hum Mol Genet , vol.6 , pp. 157-164
    • Lo Nigro, C.1    Chong, C.S.2    Smith, A.C.3    Dobyns, W.B.4    Carrozzo, R.5    Ledbetter, D.H.6
  • 32
    • 0034105691 scopus 로고    scopus 로고
    • Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
    • Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS (2000) Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34. Am J Med Genet 91:227-230
    • (2000) Am J Med Genet , vol.91 , pp. 227-230
    • Luo, J.1    Balkin, N.2    Stewart, J.F.3    Sarwark, J.F.4    Charrow, J.5    Nye, J.S.6
  • 33
    • 0027279190 scopus 로고
    • Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes
    • Lurie IW (1993) Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes. Am J Med Genet 47:410-416
    • (1993) Am J Med Genet , vol.47 , pp. 410-416
    • Lurie, I.W.1
  • 34
    • 0037020216 scopus 로고    scopus 로고
    • Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched
    • Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, Beachy PA (2002) Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched. Cell 111:63-75
    • (2002) Cell , vol.111 , pp. 63-75
    • Ma, Y.1    Erkner, A.2    Gong, R.3    Yao, S.4    Taipale, J.5    Basler, K.6    Beachy, P.A.7
  • 37
    • 0037766786 scopus 로고    scopus 로고
    • DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: Regulation and loss of interaction with mutation
    • Morris JA, Kandpal G, Ma L, Austin CP (2003) DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: Regulation and loss of interaction with mutation. Hum Mol Genet 12:1591-1608
    • (2003) Hum Mol Genet , vol.12 , pp. 1591-1608
    • Morris, J.A.1    Kandpal, G.2    Ma, L.3    Austin, C.P.4
  • 39
    • 0033604913 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    • Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 6:63-70
    • (1999) DNA Res , vol.6 , pp. 63-70
    • Nagase, T.1    Ishikawa, K.2    Suyama, M.3    Kikuno, R.4    Hirosawa, M.5    Miyajima, N.6    Tanaka, A.7    Kotani, H.8    Nomura, N.9    Ohara, O.10
  • 42
    • 0036674092 scopus 로고    scopus 로고
    • Analysis and classification of cerebellar malformations
    • Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 23:1074-1087
    • (2002) AJNR Am J Neuroradiol , vol.23 , pp. 1074-1087
    • Patel, S.1    Barkovich, A.J.2
  • 43
    • 0029983910 scopus 로고    scopus 로고
    • cDNA cloning and structural analysis of the human limbic-system-associated membrane protein (LAMP)
    • Pimenta AF, Fischer I, Levitt P (1996) cDNA cloning and structural analysis of the human limbic-system-associated membrane protein (LAMP). Gene 170:189-195
    • (1996) Gene , vol.170 , pp. 189-195
    • Pimenta, A.F.1    Fischer, I.2    Levitt, P.3
  • 44
    • 0031786268 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
    • Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O (1998) Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031-1033
    • (1998) J Med Genet , vol.35 , pp. 1031-1033
    • Pirola, B.1    Bortotto, L.2    Giglio, S.3    Piovan, E.4    Janes, A.5    Guerrini, R.6    Zuffardi, O.7
  • 46
    • 0029099297 scopus 로고
    • Isolation of cDNA clones encoding eight different human G protein gamma subunits, including three novel forms designated the gamma 4, gamma 10, and gamma 11 subunits
    • Ray K, Kunsch C, Bonner LM, Robishaw JD (1995) Isolation of cDNA clones encoding eight different human G protein gamma subunits, including three novel forms designated the gamma 4, gamma 10, and gamma 11 subunits. J Biol Chem 270:21765-21771
    • (1995) J Biol Chem , vol.270 , pp. 21765-21771
    • Ray, K.1    Kunsch, C.2    Bonner, L.M.3    Robishaw, J.D.4
  • 48
    • 29644444482 scopus 로고    scopus 로고
    • CNS malformations: Gene locations of known human mutations
    • Sarnat HB (2005) CNS malformations: Gene locations of known human mutations. Eur J Paediatr Neurol 9:427-431
    • (2005) Eur J Paediatr Neurol , vol.9 , pp. 427-431
    • Sarnat, H.B.1
  • 49
  • 51
    • 24944478689 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
    • Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42:699-705
    • (2005) J Med Genet , vol.42 , pp. 699-705
    • Schoumans, J.1    Ruivenkamp, C.2    Holmberg, E.3    Kyllerman, M.4    Anderlid, B.M.5    Nordenskjold, M.6
  • 54
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241-248
    • (2004) J Med Genet , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3    Rio, M.4    Willatt, L.5    Fiegler, H.6    Firth, H.7    Sanlaville, D.8    Winter, R.9    Colleaux, L.10    Bobrow, M.11    Carter, N.P.12
  • 55
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 13(Spec no 1):R57-R64
    • (2004) Hum Mol Genet , vol.13 , Issue.1
    • Shaw, C.J.1    Lupski, J.R.2
  • 57
    • 0028853240 scopus 로고
    • Neuronal pathfinding is abnormal in mice lacking the neuronal growth cone protein GAP-43
    • Strittmatter SM, Fankhauser C, Huang PL, Mashimo H, Fishman MC (1995) Neuronal pathfinding is abnormal in mice lacking the neuronal growth cone protein GAP-43. Cell 80:445-452
    • (1995) Cell , vol.80 , pp. 445-452
    • Strittmatter, S.M.1    Fankhauser, C.2    Huang, P.L.3    Mashimo, H.4    Fishman, M.C.5
  • 58
    • 0034962161 scopus 로고    scopus 로고
    • De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus
    • Sudha T, Dawson AJ, Prasad AN, Konkin D, de Groot GW, Prasad C (2001) De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus. Clin Dysmorphol 10:193-196
    • (2001) Clin Dysmorphol , vol.10 , pp. 193-196
    • Sudha, T.1    Dawson, A.J.2    Prasad, A.N.3    Konkin, D.4    de Groot, G.W.5    Prasad, C.6
  • 61
    • 0028014337 scopus 로고
    • The molecular basis of genetic dominance
    • Wilkie AO (1994) The molecular basis of genetic dominance. J Med Genet 31:89-98
    • (1994) J Med Genet , vol.31 , pp. 89-98
    • Wilkie, A.O.1
  • 62
    • 4243249923 scopus 로고
    • Interstitial deletion of chromosome 3q with Dandy-Walker syndrome
    • Willner J, Vosatka R, Hirschhorn K (1990) Interstitial deletion of chromosome 3q with Dandy-Walker syndrome. Am J Hum Genet 47:A44
    • (1990) Am J Hum Genet , vol.47
    • Willner, J.1    Vosatka, R.2    Hirschhorn, K.3


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