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PUBMED FOR HANDHELDS

Journal Abstract Search

236 related items for PubMed ID: 16825286

  • 41.
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  • 42. 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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  • 43. 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 15; 35(2):195-200. PubMed ID: 18427995
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  • 46. 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 15; 161A(9):2376-84. PubMed ID: 23873601
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  • 47. Familial cardiac valvulopathy due to filamin A mutation.
    Bernstein JA, Bernstein D, Hehr U, Hudgins L.
    Am J Med Genet A; 2011 Sep 15; 155A(9):2236-41. PubMed ID: 21815255
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  • 48. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
    Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH.
    Am J Hum Genet; 2010 Jul 09; 87(1):146-53. PubMed ID: 20598277
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  • 51. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
    Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P.
    Rev Esp Cardiol (Engl Ed); 2018 Jul 09; 71(7):545-552. PubMed ID: 29146485
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  • 52.
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  • 54. Filamin a regulates neural progenitor proliferation and cortical size through Wee1-dependent Cdk1 phosphorylation.
    Lian G, Lu J, Hu J, Zhang J, Cross SH, Ferland RJ, Sheen VL.
    J Neurosci; 2012 May 30; 32(22):7672-84. PubMed ID: 22649246
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  • 55. Heterogeneity of platelet functional alterations in patients with filamin A mutations.
    Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M.
    Arterioscler Thromb Vasc Biol; 2013 Jan 30; 33(1):e11-8. PubMed ID: 23117662
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  • 56.
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  • 57. 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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  • 58. FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
    Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.
    J Hum Genet; 2010 Dec 13; 55(12):844-6. PubMed ID: 20844545
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