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144 related items for PubMed ID: 30987847

  • 1. 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; 57(4):395-398. PubMed ID: 30987847
    [Abstract] [Full Text] [Related]

  • 2. A review of filamin A mutations and associated interstitial lung disease.
    Sasaki E, Byrne AT, Phelan E, Cox DW, Reardon W.
    Eur J Pediatr; 2019 Feb; 178(2):121-129. PubMed ID: 30547349
    [Abstract] [Full Text] [Related]

  • 3. Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
    Pelizzo G, Collura M, Puglisi A, Pappalardo MP, Agolini E, Novelli A, Piccione M, Cacace C, Bussani R, Corsello G, Calcaterra V.
    BMC Pediatr; 2019 Mar 29; 19(1):86. PubMed ID: 30922288
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.
    Shah AS, Black ED, Simon DM, Gambello MJ, Garber KB, Iannucci GJ, Riedesel EL, Kasi AS.
    Pediatr Allergy Immunol Pulmonol; 2021 Mar 18; 34(1):7-14. PubMed ID: 33734874
    [Abstract] [Full Text] [Related]

  • 6. 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 18; 40(6):489-492. PubMed ID: 29449050
    [Abstract] [Full Text] [Related]

  • 7. Lung Transplantation for FLNA-Associated Progressive Lung Disease.
    Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB.
    J Pediatr; 2017 Jul 18; 186():118-123.e6. PubMed ID: 28457522
    [Abstract] [Full Text] [Related]

  • 8. Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.
    Meliota G, Vairo U, Ficarella R, Milella L, Faienza MF, D'Amato G.
    Adv Neonatal Care; 2022 Apr 01; 22(2):125-131. PubMed ID: 33852449
    [Abstract] [Full Text] [Related]

  • 9. Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
    Yang L, Wu G, Yin H, Pan M, Zhu Y.
    BMC Pediatr; 2023 Jul 08; 23(1):346. PubMed ID: 37422633
    [Abstract] [Full Text] [Related]

  • 10. 47 patients with FLNA associated periventricular nodular heterotopia.
    Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U.
    Orphanet J Rare Dis; 2015 Oct 15; 10():134. PubMed ID: 26471271
    [Abstract] [Full Text] [Related]

  • 11. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
    Tanner LM, Kunishima S, Lehtinen E, Helin T, Volmonen K, Lassila R, Pöyhönen M.
    Am J Med Genet A; 2022 Jun 15; 188(6):1716-1722. PubMed ID: 35156755
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study.
    Calcaterra V, Avanzini MA, Mantelli M, Agolini E, Croce S, De Silvestri A, Re G, Collura M, Maltese A, Novelli A, Pelizzo G.
    Medicine (Baltimore); 2018 Dec 25; 97(50):e13033. PubMed ID: 30557962
    [Abstract] [Full Text] [Related]

  • 15. Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?
    Valentin V, Bervar JF, Vincent-Delorme C, Smol T, Wemeau L, Remy M, Le Rouzic O, Chenivesse C.
    Chest; 2021 Mar 25; 159(3):e131-e135. PubMed ID: 33678279
    [Abstract] [Full Text] [Related]

  • 16. Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.
    Lord A, Shapiro AJ, Saint-Martin C, Claveau M, Melançon S, Wintermark P.
    Respir Care; 2014 Nov 25; 59(11):e171-7. PubMed ID: 25053830
    [Abstract] [Full Text] [Related]

  • 17. Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
    Chen MH, Choudhury S, Hirata M, Khalsa S, Chang B, Walsh CA.
    Am J Med Genet A; 2018 Feb 25; 176(2):337-350. PubMed ID: 29334594
    [Abstract] [Full Text] [Related]

  • 18. Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
    Desnous B, Carles G, Riccardi F, Stremler N, Baravalle M, El-Louali F, Testud B, Milh M.
    Prenat Diagn; 2024 Mar 25; 44(3):364-368. PubMed ID: 38148030
    [Abstract] [Full Text] [Related]

  • 19. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.
    J Med Genet; 2015 Jun 25; 52(6):405-12. PubMed ID: 25755106
    [Abstract] [Full Text] [Related]

  • 20. 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]

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