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PUBMED FOR HANDHELDS

Journal Abstract Search

296 related items for PubMed ID: 30089473

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  • 23. Lung disease associated with filamin A gene mutation: a case report.
    Eltahir S, Ahmad KS, Al-Balawi MM, Bukhamsien H, Al-Mobaireek K, Alotaibi W, Al-Shamrani A.
    J Med Case Rep; 2016 Apr 18; 10():97. PubMed ID: 27091362
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  • 25. 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 18; 54(1):25-8. PubMed ID: 20888935
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  • 26. Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.
    Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP.
    Am J Med Genet A; 2014 Jan 18; 164A(1):113-9. PubMed ID: 24243761
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  • 29. 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 18; 71(7):545-552. PubMed ID: 29146485
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  • 31. 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 18; 26(5):326-34. PubMed ID: 15165674
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  • 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 Aug 18; 17(5):e0265400. PubMed ID: 35613087
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  • 33. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M.
    Clin Genet; 2018 Jan 18; 93(1):126-133. PubMed ID: 28386937
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  • 38. 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 18; 55(5):313-8. PubMed ID: 22366253
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  • 40. Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease.
    Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S.
    Respir Investig; 2019 Jul 18; 57(4):395-398. PubMed ID: 30987847
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