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Journal Abstract Search

182 related items for PubMed ID: 11914408

  • 1. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
    Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R.
    Neurology; 2002 Mar 26; 58(6):916-21. PubMed ID: 11914408
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  • 2. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
    Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.
    Neurology; 2004 Jul 13; 63(1):51-6. PubMed ID: 15249610
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  • 3. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
    Masruha MR, Caboclo LO, Carrete H, Cendes IL, Rodrigues MG, Garzon E, Yacubian EM, Sakamoto AC, Sheen V, Harney M, Neal J, Hill RS, Bodell A, Walsh C, Vilanova LC.
    Epilepsia; 2006 Jan 13; 47(1):211-4. PubMed ID: 16417552
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  • 4. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
    Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.
    J Neurol Neurosurg Psychiatry; 2009 Dec 13; 80(12):1394-8. PubMed ID: 19917821
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  • 5. 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, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA.
    Hum Mol Genet; 2001 Aug 15; 10(17):1775-83. PubMed ID: 11532987
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  • 9. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
    Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F.
    Am J Med Genet A; 2006 May 15; 140(10):1041-6. PubMed ID: 16596669
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  • 10. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
    Neurology; 2005 Jan 25; 64(2):254-62. PubMed ID: 15668422
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  • 11. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
    Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C.
    Eur J Med Genet; 2012 May 25; 55(5):313-8. PubMed ID: 22366253
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  • 17. Epilepsy and genetic malformations of the cerebral cortex.
    Guerrini R, Carrozzo R.
    Am J Med Genet; 2001 May 25; 106(2):160-73. PubMed ID: 11579436
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  • 18. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
    Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H.
    Acta Neuropathol; 2002 Dec 25; 104(6):649-57. PubMed ID: 12410386
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  • 20. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
    Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA.
    Brain Dev; 2004 Aug 25; 26(5):326-34. PubMed ID: 15165674
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