These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

246 related items for PubMed ID: 35613087

  • 1. 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; 17(5):e0265400. PubMed ID: 35613087
    [Abstract] [Full Text] [Related]

  • 2. 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; 52(6):405-12. PubMed ID: 25755106
    [Abstract] [Full Text] [Related]

  • 3. 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; 161A(9):2376-84. PubMed ID: 23873601
    [Abstract] [Full Text] [Related]

  • 4. 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; 188(6):1716-1722. PubMed ID: 35156755
    [Abstract] [Full Text] [Related]

  • 5. 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; 161A(6):1323-8. PubMed ID: 23636902
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 12; 93(7):773-82. PubMed ID: 25686753
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 08; 178(2):121-129. PubMed ID: 30547349
    [Abstract] [Full Text] [Related]

  • 10. 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 08; 47(1):211-4. PubMed ID: 16417552
    [Abstract] [Full Text] [Related]

  • 11. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.
    Brain; 2006 Jul 08; 129(Pt 7):1892-906. PubMed ID: 16684786
    [Abstract] [Full Text] [Related]

  • 12. 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 08; 80(12):1394-8. PubMed ID: 19917821
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. Germline mosaicism in X-linked periventricular nodular heterotopia.
    LaPointe MM, Spriggs EL, Mhanni AA.
    BMC Neurol; 2014 Jun 07; 14():125. PubMed ID: 24906659
    [Abstract] [Full Text] [Related]

  • 16. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
    Lu YT, Hsu CY, Liu YT, Chan CK, Chuang YC, Lin CH, Chang KP, Ho CJ, Ng CC, Lim KS, Tsai MH.
    Biomed J; 2022 Jun 07; 45(3):542-548. PubMed ID: 35660364
    [Abstract] [Full Text] [Related]

  • 17. 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 Jun 07; 17():109-114. PubMed ID: 29062687
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 19(11):5393-5398. PubMed ID: 39285959
    [Abstract] [Full Text] [Related]

  • 19. 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 07; 40(6):489-492. PubMed ID: 29449050
    [Abstract] [Full Text] [Related]

  • 20. 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 07; 55(5):313-8. PubMed ID: 22366253
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.