BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 18(3):497-516. PubMed ID: 18996916
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 18(24):4791-800. PubMed ID: 19773341
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 50(6):473-6. PubMed ID: 18384621
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 100(1):45-50. PubMed ID: 20730588
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 74(4):731-7. PubMed ID: 14988809
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Structure of the human filamin A actin-binding domain.
    Ruskamo S; Ylänne J
    Acta Crystallogr D Biol Crystallogr; 2009 Nov; 65(Pt 11):1217-21. PubMed ID: 19923718
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 136(2):190-3. PubMed ID: 15940695
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process.
    Tsuneda SS; Torres FR; Montenegro MA; Guerreiro MM; Cendes F; Lopes-Cendes I
    J Mol Neurosci; 2008 Jun; 35(2):195-200. PubMed ID: 18427995
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
    Sheen VL; Basel-Vanagaite L; Goodman JR; Scheffer IE; Bodell A; Ganesh VS; Ravenscroft R; Hill RS; Cherry TJ; Shugart YY; Barkovich J; Straussberg R; Walsh CA
    Brain Dev; 2004 Aug; 26(5):326-34. PubMed ID: 15165674
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 34(10):1528-43. PubMed ID: 20871226
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
    Reinstein E; Chang BS; Robertson SP; Rimoin DL; Katzir T
    Am J Med Genet A; 2012 Aug; 158A(8):1897-901. PubMed ID: 22740120
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 136(Pt 11):3378-94. PubMed ID: 24056535
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 155A(5):1140-6. PubMed ID: 21484998
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 143A(10):1120-5. PubMed ID: 17431908
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 80(4):426-8. PubMed ID: 19289478
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 23(8):950-3. PubMed ID: 18660478
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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; 128(Pt 12):2811-21. PubMed ID: 16311271
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
    Nurden P; Debili N; Coupry I; Bryckaert M; Youlyouz-Marfak I; Solé G; Pons AC; Berrou E; Adam F; Kauskot A; Lamazière JM; Rameau P; Fergelot P; Rooryck C; Cailley D; Arveiler B; Lacombe D; Vainchenker W; Nurden A; Goizet C
    Blood; 2011 Nov; 118(22):5928-37. PubMed ID: 21960593
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.