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Volumn 1, Issue 1, 2010, Pages 35-41

Periventricular heterotopia in common microdeletion syndromes

Author keywords

Microdeletion syndrome; Neuronal migration; Periventricular heterotopia

Indexed keywords

GENOMIC DNA;

EID: 77952704322     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000274491     Document Type: Article
Times cited : (26)

References (38)
  • 1
    • 34047260547 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3)
    • Balci S, Unal A, Engiz O, Aktas D, Liehr T, et al: Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Dev Med Child Neurol 49: 219-224 (2007).
    • (2007) Dev Med Child Neurol , vol.49 , pp. 219-224
    • Balci, S.1    Unal, A.2    Engiz, O.3    Aktas, D.4    Liehr, T.5
  • 3
    • 38849085346 scopus 로고    scopus 로고
    • Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
    • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, et al: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121: 404-410 (2008).
    • (2008) Pediatrics , vol.121 , pp. 404-410
    • Battaglia, A.1    Hoyme, H.E.2    Dallapiccola, B.3    Zackai, E.4    Hudgins, L.5
  • 4
    • 33645870983 scopus 로고    scopus 로고
    • Parieto-occipital grey matter abnormalities in children with Williams syndrome
    • Boddaert N, Mochel F, Meresse I, Seidenwurm D, Cachia A, et al: Parieto-occipital grey matter abnormalities in children with Williams syndrome. Neuroimage 30: 721-725 (2006).
    • (2006) Neuroimage , vol.30 , pp. 721-725
    • Boddaert, N.1    Mochel, F.2    Meresse, I.3    Seidenwurm, D.4    Cachia, A.5
  • 5
    • 62849121751 scopus 로고    scopus 로고
    • Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
    • Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, et al: Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 72: 784-792 (2009).
    • (2009) Neurology , vol.72 , pp. 784-792
    • Cardoso, C.1    Boys, A.2    Parrini, E.3    Mignon-Ravix, C.4    McMahon, J.M.5
  • 6
    • 20044379739 scopus 로고    scopus 로고
    • Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia
    • Chang BS, Ly J, Appignani B, Bodell A, Apse KA, et al: Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology 64: 799-803 (2005).
    • (2005) Neurology , vol.64 , pp. 799-803
    • Chang, B.S.1    Ly, J.2    Appignani, B.3    Bodell, A.4    Apse, K.A.5
  • 7
    • 34347214068 scopus 로고    scopus 로고
    • 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry
    • Chiang MC, Reiss AL, Lee AD, Bellugi U, Galaburda AM, et al: 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Neuroimage 36: 1096-1109 (2007).
    • (2007) Neuroimage , vol.36 , pp. 1096-1109
    • Chiang, M.C.1    Reiss, A.L.2    Lee, A.D.3    Bellugi, U.4    Galaburda, A.M.5
  • 8
    • 47149093878 scopus 로고    scopus 로고
    • Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
    • Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, et al: Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A:1637-1654 (2008).
    • (2008) Am J Med Genet A , vol.146 A , pp. 1637-1654
    • Dobyns, W.B.1    Mirzaa, G.2    Christian, S.L.3    Petras, K.4    Roseberry, J.5
  • 10
    • 0030826427 scopus 로고    scopus 로고
    • Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia
    • Fink JM, Dobyns WB, Guerrini R, Hirsch BA: Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet 61: 379-387 (1997).
    • (1997) Am J Hum Genet , vol.61 , pp. 379-387
    • Fink, J.M.1    Dobyns, W.B.2    Guerrini, R.3    Hirsch, B.A.4
  • 11
    • 0032422555 scopus 로고    scopus 로고
    • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
    • Fox JW, Lamperti ED, Ekşioǧlu YZ, Hong SE, Feng Y, et al: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21: 1315-1325 (1998).
    • (1998) Neuron , vol.21 , pp. 1315-1325
    • Fox, J.W.1    Lamperti, E.D.2    Ekşioǧlu, Y.Z.3    Hong, S.E.4    Feng, Y.5
  • 14
    • 43949102420 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12; 17)(q24.31; p13.3) translocation
    • Grosso S, Fichera M, Galesi O, Luciano D, Pucci L, et al: Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12; 17)(q24.31; p13.3) translocation. Dev Med Child Neurol 50: 473-476 (2008).
    • (2008) Dev Med Child Neurol , vol.50 , pp. 473-476
    • Grosso, S.1    Fichera, M.2    Galesi, O.3    Luciano, D.4    Pucci, L.5
  • 15
    • 0025260871 scopus 로고
    • Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome
    • Jernigan TL, Bellugi U: Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Arch Neurol 47: 529-533 (1990).
    • (1990) Arch Neurol , vol.47 , pp. 529-533
    • Jernigan, T.L.1    Bellugi, U.2
  • 17
    • 0032706078 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: A case report and review of the literature
    • Kraynack NC, Hostoffer RW, Robin NH: Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature. J Child Neurol 14: 754-756 (1999).
    • (1999) J Child Neurol , vol.14 , pp. 754-756
    • Kraynack, N.C.1    Hostoffer, R.W.2    Robin, N.H.3
  • 19
    • 1542752904 scopus 로고    scopus 로고
    • Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1; 6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes
    • Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, et al: Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1; 6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet 40:e128 (2003).
    • (2003) J Med Genet , vol.40
    • Leeflang, E.P.1    Marsh, S.E.2    Parrini, E.3    Moro, F.4    Pilz, D.5
  • 20
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408 (2001).
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 21
    • 46349099218 scopus 로고    scopus 로고
    • Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    • Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, et al: Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83: 106-111 (2008).
    • (2008) Am J Hum Genet , vol.83 , pp. 106-111
    • Marshall, C.R.1    Young, E.J.2    Pani, A.M.3    Freckmann, M.L.4    Lacassie, Y.5
  • 22
    • 0031290380 scopus 로고    scopus 로고
    • Chiari I malformation in asymptomatic young children with Williams syndrome: Clinical and MRI study
    • Mercuri E, Atkinson J, Braddick O, Rutherford MA, Cowan FM, et al: Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. Eur J Paediatr Neurol 1: 177-181 (1997).
    • (1997) Eur J Paediatr Neurol , vol.1 , pp. 177-181
    • Mercuri, E.1    Atkinson, J.2    Braddick, O.3    Rutherford, M.A.4    Cowan, F.M.5
  • 24
    • 22244453416 scopus 로고    scopus 로고
    • A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
    • Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, et al: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 65: 6071-6079 (2005).
    • (2005) Cancer Res , vol.65 , pp. 6071-6079
    • Nannya, Y.1    Sanada, M.2    Nakazaki, K.3    Hosoya, N.4    Wang, L.5
  • 25
    • 33746602228 scopus 로고    scopus 로고
    • Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia
    • Neal J, Apse K, Sahin M, Walsh CA, Sheen VL: Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. Am J Med Genet A 140: 1692-1695 (2006).
    • (2006) Am J Med Genet A , vol.140 , pp. 1692-1695
    • Neal, J.1    Apse, K.2    Sahin, M.3    Walsh, C.A.4    Sheen, V.L.5
  • 26
    • 33644530031 scopus 로고    scopus 로고
    • Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia
    • Ozawa H, Osawa M, Nagai T, Sakura N: Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. Pediatr Neurol 34: 239-241 (2006).
    • (2006) Pediatr Neurol , vol.34 , pp. 239-241
    • Ozawa, H.1    Osawa, M.2    Nagai, T.3    Sakura, N.4
  • 27
    • 33745685474 scopus 로고    scopus 로고
    • Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations
    • Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, et al: Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 129: 1892-1906 (2006).
    • (2006) Brain , vol.129 , pp. 1892-1906
    • Parrini, E.1    Ramazzotti, A.2    Dobyns, W.B.3    Mei, D.4    Moro, F.5
  • 28
    • 33750580533 scopus 로고    scopus 로고
    • Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
    • Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, et al: Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A 140: 2416-2425 (2006).
    • (2006) Am J Med Genet A , vol.140 , pp. 2416-2425
    • Robin, N.H.1    Taylor, C.J.2    McDonald-McGinn, D.M.3    Zackai, E.H.4    Bingham, P.5
  • 29
    • 34249867946 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia with amniotic band syndrome
    • Ruggieri M, Spalice A, Polizzi A, Roggini M, Iannetti P: Bilateral periventricular nodular heterotopia with amniotic band syndrome. Pediatr Neurol 36: 407-410 (2007).
    • (2007) Pediatr Neurol , vol.36 , pp. 407-410
    • Ruggieri, M.1    Spalice, A.2    Polizzi, A.3    Roggini, M.4    Iannetti, P.5
  • 30
    • 56049116986 scopus 로고    scopus 로고
    • Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36
    • Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, et al: Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. Am J Med Genet A 146A:2891-2897 (2008).
    • (2008) Am J Med Genet A , vol.146 A , pp. 2891-2897
    • Saito, S.1    Kawamura, R.2    Kosho, T.3    Shimizu, T.4    Aoyama, K.5
  • 31
    • 0035880455 scopus 로고    scopus 로고
    • Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
    • Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, et al: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 10: 1775-1783 (2001).
    • (2001) Hum Mol Genet , vol.10 , pp. 1775-1783
    • Sheen, V.L.1    Dixon, P.H.2    Fox, J.W.3    Hong, S.E.4    Kinton, L.5
  • 32
    • 0037465847 scopus 로고    scopus 로고
    • Periventricular heterotopia associated with chromosome 5p anomalies
    • Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, et al: Periventricular heterotopia associated with chromosome 5p anomalies. Neurology 60: 1033-1036 (2003).
    • (2003) Neurology , vol.60 , pp. 1033-1036
    • Sheen, V.L.1    Wheless, J.W.2    Bodell, A.3    Braverman, E.4    Cotter, P.D.5
  • 33
    • 9144274368 scopus 로고    scopus 로고
    • Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
    • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, et al: Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 36: 69-76 (2004).
    • (2004) Nat Genet , vol.36 , pp. 69-76
    • Sheen, V.L.1    Ganesh, V.S.2    Topcu, M.3    Sebire, G.4    Bodell, A.5
  • 34
    • 19944432730 scopus 로고    scopus 로고
    • Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
    • Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, et al: Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 64: 254-262 (2005).
    • (2005) Neurology , vol.64 , pp. 254-262
    • Sheen, V.L.1    Jansen, A.2    Chen, M.H.3    Parrini, E.4    Morgan, T.5
  • 35
    • 34548828266 scopus 로고    scopus 로고
    • De Morsier syndrome associated with periventricular nodular heterotopia: Case report
    • Spinosa MJ, Liberalesso PB, Vieira SC, Lohr A Jr: De Morsier syndrome associated with periventricular nodular heterotopia: case report. Arq Neuropsiquiatr 65: 693-696 (2007).
    • (2007) Arq Neuropsiquiatr , vol.65 , pp. 693-696
    • Spinosa, M.J.1    Liberalesso, P.B.2    Vieira, S.C.3    Lohr Jr., A.4
  • 37
    • 15944385977 scopus 로고    scopus 로고
    • Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
    • Tsao CY, Wenger GD, Bartholomew DW: Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. Am J Med Genet A 134A:198-201 (2005).
    • (2005) Am J Med Genet A , vol.134 A , pp. 198-201
    • Tsao, C.Y.1    Wenger, G.D.2    Bartholomew, D.W.3


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