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Journal Abstract Search

126 related items for PubMed ID: 38148030

  • 1. 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; 44(3):364-368. PubMed ID: 38148030
    [Abstract] [Full Text] [Related]

  • 2. Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation.
    Liu W, An D, Niu R, Gong Q, Zhou D.
    Neuroimage Clin; 2018 Mar; 17():109-114. PubMed ID: 29062687
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 40(6):489-492. PubMed ID: 29449050
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
    Liu W, Yan B, An D, Xiao J, Hu F, Zhou D.
    Epilepsy Res; 2017 Jul 08; 133():33-40. PubMed ID: 28411558
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 52(6):405-12. PubMed ID: 25755106
    [Abstract] [Full Text] [Related]

  • 8. Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
    Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N.
    Eur J Med Genet; 2018 Dec 08; 61(12):773-782. PubMed ID: 30391507
    [Abstract] [Full Text] [Related]

  • 9. A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause.
    Neves MT, Borges AL, Martins G, Sá G, Loureiro T, Moldovan O.
    Radiol Case Rep; 2024 Nov 08; 19(11):5393-5398. PubMed ID: 39285959
    [Abstract] [Full Text] [Related]

  • 10. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
    Kasper BS, Kurzbuch K, Chang BS, Pauli E, Hamer HM, Winkler J, Hehr U.
    Am J Med Genet A; 2013 Jun 08; 161A(6):1323-8. PubMed ID: 23636902
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
    Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R, EPGP Investigators.
    Epilepsy Behav; 2015 Oct 29; 51():321-7. PubMed ID: 26340046
    [Abstract] [Full Text] [Related]

  • 13. Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling.
    Chen CP, Chern SR, Chiu NC, Liu YP, Chen YN, Chen SW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Dec 29; 55(6):897-899. PubMed ID: 28040145
    [No Abstract] [Full Text] [Related]

  • 14. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
    Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.
    Brain; 2013 Nov 29; 136(Pt 11):3378-94. PubMed ID: 24056535
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 01; 161A(9):2376-84. PubMed ID: 23873601
    [Abstract] [Full Text] [Related]

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  • 18. Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging.
    Blondiaux E, Sileo C, Nahama-Allouche C, Moutard ML, Gelot A, Jouannic JM, Ducou le Pointe H, Garel C.
    Ultrasound Obstet Gynecol; 2013 Aug 01; 42(2):149-55. PubMed ID: 23151899
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