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Journal Abstract Search


255 related items for PubMed ID: 20888935

  • 21. 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
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  • 22. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
    Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao YC, Diamond R, Mei D, Banham AH, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL.
    Hum Mol Genet; 2009 Feb 01; 18(3):497-516. PubMed ID: 18996916
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  • 23. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
    Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.
    Hum Mol Genet; 2009 Dec 15; 18(24):4791-800. PubMed ID: 19773341
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  • 24. Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.
    Grosso S, Fichera M, Galesi O, Luciano D, Pucci L, Giardini F, Berardi R, Balestri P.
    Dev Med Child Neurol; 2008 Jun 15; 50(6):473-6. PubMed ID: 18384621
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  • 25. Combined cardiological and neurological abnormalities due to filamin A gene mutation.
    de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM.
    Clin Res Cardiol; 2011 Jan 15; 100(1):45-50. PubMed ID: 20730588
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  • 26. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
    Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A.
    Am J Hum Genet; 2004 Apr 15; 74(4):731-7. PubMed ID: 14988809
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  • 28. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
    Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.
    Am J Med Genet A; 2005 Jul 15; 136(2):190-3. PubMed ID: 15940695
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  • 31. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.
    Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ.
    Am J Surg Pathol; 2010 Oct 15; 34(10):1528-43. PubMed ID: 20871226
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  • 34. In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
    Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R.
    Am J Med Genet A; 2011 May 15; 155A(5):1140-6. PubMed ID: 21484998
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  • 35. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
    Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI.
    Am J Med Genet A; 2007 May 15; 143A(10):1120-5. PubMed ID: 17431908
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  • 36. Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
    de Wit MC, Kros JM, Halley DJ, de Coo IF, Verdijk R, Jacobs BC, Mancini GM.
    J Neurol Neurosurg Psychiatry; 2009 Apr 15; 80(4):426-8. PubMed ID: 19289478
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  • 37. Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
    McCann MV, Pongonis SJ, Golomb MR, Edwards-Brown M, Christensen CK, Sokol DK.
    J Child Neurol; 2008 Aug 15; 23(8):950-3. PubMed ID: 18660478
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  • 38. 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
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  • 39. Periventricular nodular heterotopia with overlying polymicrogyria.
    Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB.
    Brain; 2005 Dec 15; 128(Pt 12):2811-21. PubMed ID: 16311271
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