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Journal Abstract Search

144 related items for PubMed ID: 30987847

  • 21. 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; 54(1):25-8. PubMed ID: 20888935
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  • 22. 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
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  • 23. Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
    Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T.
    Eur J Hum Genet; 2016 Mar 12; 24(3):408-14. PubMed ID: 26059841
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  • 29. Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.
    Deng X, Li S, Qiu Q, Jin B, Yan M, Hu Y, Wu Y, Zhou H, Zhang G, Zheng X.
    BMC Pediatr; 2020 Nov 03; 20(1):504. PubMed ID: 33143682
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  • 30. 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 03; 80(12):1394-8. PubMed ID: 19917821
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  • 31. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
    van Kogelenberg M, Clark AR, Jenkins Z, Morgan T, Anandan A, Sawyer GM, Edwards M, Dudding T, Homfray T, Castle B, Tolmie J, Stewart F, Kivuva E, Pilz DT, Gabbett M, Sutherland-Smith AJ, Robertson SP.
    J Mol Med (Berl); 2015 Jul 03; 93(7):773-82. PubMed ID: 25686753
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  • 32. 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 03; 47(1):211-4. PubMed ID: 16417552
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  • 33. Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.
    Shelmerdine SC, Semple T, Wallis C, Aurora P, Moledina S, Ashworth MT, Owens CM.
    Pediatr Pulmonol; 2017 Oct 03; 52(10):1306-1315. PubMed ID: 28898549
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  • 34. Allogeneic mesenchymal stromal cells: Novel therapeutic option for mutated FLNA-associated respiratory failure in the pediatric setting.
    Pelizzo G, Avanzini MA, Lenta E, Mantelli M, Croce S, Catenacci L, Acquafredda G, Ferraro AL, Giambanco C, D'Amelio L, Giordano S, Re G, Zennaro F, Calcaterra V.
    Pediatr Pulmonol; 2020 Jan 03; 55(1):190-197. PubMed ID: 31468740
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  • 35. 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 Jan 03; 17(5):e0265400. PubMed ID: 35613087
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  • 36. Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.
    Burrage LC, Heinle JS, Cerfolio RH, Guillerman RP, Patel KR, Santiago NC, Hoover WC, Mallory GB.
    Pediatr Pulmonol; 2022 Jan 03; 57(1):224-230. PubMed ID: 34882997
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  • 37. FLNA genomic rearrangements cause periventricular nodular heterotopia.
    Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA.
    Neurology; 2012 Jan 24; 78(4):269-78. PubMed ID: 22238415
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  • 38. 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 24; 26(5):326-34. PubMed ID: 15165674
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  • 39. Asymmetrical aortic root aneurism in patient with Filamin A mutation.
    Martin-Suarez S, Gliozzi G, Pagano V, Leone O, Foà A, Ruggiero A, Snaidero S, Cerchierini E, Pacini D.
    J Card Surg; 2022 Oct 24; 37(10):3408-3412. PubMed ID: 35819109
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  • 40. 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 24; 71(7):545-552. PubMed ID: 29146485
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