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Journal Abstract Search


206 related items for PubMed ID: 22238415

  • 21. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
    Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C.
    Hum Mol Genet; 2012 Mar 01; 21(5):1004-17. PubMed ID: 22076441
    [Abstract] [Full Text] [Related]

  • 22. Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
    Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T.
    Am J Med Genet A; 2012 Aug 01; 158A(8):1897-901. PubMed ID: 22740120
    [Abstract] [Full Text] [Related]

  • 23. 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 01; 80(4):426-8. PubMed ID: 19289478
    [Abstract] [Full Text] [Related]

  • 24. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
    Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L.
    Eur J Med Genet; 2011 Apr 01; 54(1):25-8. PubMed ID: 20888935
    [Abstract] [Full Text] [Related]

  • 25. Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation.
    Liu W, An D, Niu R, Gong Q, Zhou D.
    Neuroimage Clin; 2018 Apr 01; 17():109-114. PubMed ID: 29062687
    [Abstract] [Full Text] [Related]

  • 26. Novel no-stop FLNA mutation causes multi-organ involvement in males.
    Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.
    Am J Med Genet A; 2013 Sep 01; 161A(9):2376-84. PubMed ID: 23873601
    [Abstract] [Full Text] [Related]

  • 27. In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
    Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R.
    Am J Med Genet A; 2011 May 01; 155A(5):1140-6. PubMed ID: 21484998
    [Abstract] [Full Text] [Related]

  • 28. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
    Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao YC, Diamond R, Mei D, Banham AH, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL.
    Hum Mol Genet; 2009 Feb 01; 18(3):497-516. PubMed ID: 18996916
    [Abstract] [Full Text] [Related]

  • 29. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
    Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R, EPGP Investigators.
    Epilepsy Behav; 2015 Oct 01; 51():321-7. PubMed ID: 26340046
    [Abstract] [Full Text] [Related]

  • 30. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
    Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.
    Brain; 2013 Nov 01; 136(Pt 11):3378-94. PubMed ID: 24056535
    [Abstract] [Full Text] [Related]

  • 31. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
    Liu W, Yan B, An D, Xiao J, Hu F, Zhou D.
    Epilepsy Res; 2017 Jul 01; 133():33-40. PubMed ID: 28411558
    [Abstract] [Full Text] [Related]

  • 32. Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
    Gerlevik U, Saygı C, Cangül H, Kutlu A, Çaralan EF, Topçu Y, Özören N, Sezerman OU.
    PLoS One; 2022 Jul 01; 17(5):e0265400. PubMed ID: 35613087
    [Abstract] [Full Text] [Related]

  • 33. Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex.
    Sarkisian MR, Bartley CM, Rakic P.
    Trends Neurosci; 2008 Feb 01; 31(2):54-61. PubMed ID: 18201775
    [Abstract] [Full Text] [Related]

  • 34. [New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases].
    Cao M, Liu C, Wei Z, Qiao X, Deng Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul 10; 38(7):626-630. PubMed ID: 34247364
    [Abstract] [Full Text] [Related]

  • 35. Cardiac malformations and midline skeletal defects in mice lacking filamin A.
    Hart AW, Morgan JE, Schneider J, West K, McKie L, Bhattacharya S, Jackson IJ, Cross SH.
    Hum Mol Genet; 2006 Aug 15; 15(16):2457-67. PubMed ID: 16825286
    [Abstract] [Full Text] [Related]

  • 36. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
    Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S.
    Brain Dev; 2018 Jun 15; 40(6):489-492. PubMed ID: 29449050
    [Abstract] [Full Text] [Related]

  • 37. Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.
    Loft Nagel J, Jønch AE, Nguyen NTTN, Bygum A.
    BMJ Case Rep; 2022 Apr 12; 15(4):. PubMed ID: 35414575
    [Abstract] [Full Text] [Related]

  • 38. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
    Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA.
    Pediatr Radiol; 2000 Nov 12; 30(11):748-55. PubMed ID: 11100490
    [Abstract] [Full Text] [Related]

  • 39. Autosomal recessive form of periventricular heterotopia.
    Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA.
    Neurology; 2003 Apr 08; 60(7):1108-12. PubMed ID: 12682315
    [Abstract] [Full Text] [Related]

  • 40. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
    Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C.
    Blood; 2011 Nov 24; 118(22):5928-37. PubMed ID: 21960593
    [Abstract] [Full Text] [Related]


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