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Journal Abstract Search

240 related items for PubMed ID: 23032111

  • 1. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
    Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP.
    Eur J Hum Genet; 2013 May; 21(5):494-502. PubMed ID: 23032111
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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 25; 80(12):1394-8. PubMed ID: 19917821
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  • 4. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
    Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM.
    J Med Genet; 2006 Mar 25; 43(3):232-7. PubMed ID: 15994863
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  • 5. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.
    Brain; 2006 Jul 25; 129(Pt 7):1892-906. PubMed ID: 16684786
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  • 6. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
    Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.
    BMC Med Genet; 2018 Aug 08; 19(1):140. PubMed ID: 30089473
    [Abstract] [Full Text] [Related]

  • 7. Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
    de Wit MC, Kros JM, Halley DJ, de Coo IF, Verdijk R, Jacobs BC, Mancini GM.
    J Neurol Neurosurg Psychiatry; 2009 Apr 08; 80(4):426-8. PubMed ID: 19289478
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  • 11. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
    Sheen VL, Walsh CA.
    Clin Med Res; 2005 Nov 08; 3(4):229-33. PubMed ID: 16303888
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  • 13. A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process.
    Tsuneda SS, Torres FR, Montenegro MA, Guerreiro MM, Cendes F, Lopes-Cendes I.
    J Mol Neurosci; 2008 Jun 08; 35(2):195-200. PubMed ID: 18427995
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  • 18. Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.
    Verrotti A, Monacelli D, Castagnino M, Villa MP, Parisi P.
    Seizure; 2014 Nov 08; 23(10):819-24. PubMed ID: 25131162
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