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Journal Abstract Search

202 related items for PubMed ID: 33852449

  • 1. 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
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  • 3. 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 01; 40(6):489-492. PubMed ID: 29449050
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  • 6. 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
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  • 8. 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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  • 16. 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 18; 176(2):337-350. PubMed ID: 29334594
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  • 17. 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
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  • 19. 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 Jul 08; 54(1):25-8. PubMed ID: 20888935
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  • 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
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