BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 17357080)

  • 1. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
    Gargiulo A; Auricchio R; Barone MV; Cotugno G; Reardon W; Milla PJ; Ballabio A; Ciccodicola A; Auricchio A
    Am J Hum Genet; 2007 Apr; 80(4):751-8. PubMed ID: 17357080
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 47(1):211-4. PubMed ID: 16417552
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL; Jansen A; Chen MH; Parrini E; Morgan T; Ravenscroft R; Ganesh V; Underwood T; Wiley J; Leventer R; Vaid RR; Ruiz DE; Hutchins GM; Menasha J; Willner J; Geng Y; Gripp KW; Nicholson L; Berry-Kravis E; Bodell A; Apse K; Hill RS; Dubeau F; Andermann F; Barkovich J; Andermann E; Shugart YY; Thomas P; Viri M; Veggiotti P; Robertson S; Guerrini R; Walsh CA
    Neurology; 2005 Jan; 64(2):254-62. PubMed ID: 15668422
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
    Santos HH; Garcia PP; Pereira L; Leão LL; Aguiar RA; Lana AM; Carvalho MR; Aguiar MJ
    Am J Med Genet A; 2010 Mar; 152A(3):726-31. PubMed ID: 20186808
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 129(Pt 7):1892-906. PubMed ID: 16684786
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial cardiac valvulopathy due to filamin A mutation.
    Bernstein JA; Bernstein D; Hehr U; Hudgins L
    Am J Med Genet A; 2011 Sep; 155A(9):2236-41. PubMed ID: 21815255
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
    Duff RM; Tay V; Hackman P; Ravenscroft G; McLean C; Kennedy P; Steinbach A; Schöffler W; van der Ven PFM; Fürst DO; Song J; Djinović-Carugo K; Penttilä S; Raheem O; Reardon K; Malandrini A; Gambelli S; Villanova M; Nowak KJ; Williams DR; Landers JE; Brown RH; Udd B; Laing NG
    Am J Hum Genet; 2011 Jun; 88(6):729-740. PubMed ID: 21620354
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α
    Berrou E; Adam F; Lebret M; Planche V; Fergelot P; Issertial O; Coupry I; Bordet JC; Nurden P; Bonneau D; Colin E; Goizet C; Rosa JP; Bryckaert M
    Arterioscler Thromb Vasc Biol; 2017 Jun; 37(6):1087-1097. PubMed ID: 28428218
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cardiac malformations and midline skeletal defects in mice lacking filamin A.
    Hart AW; Morgan JE; Schneider J; West K; McKie L; Bhattacharya S; Jackson IJ; Cross SH
    Hum Mol Genet; 2006 Aug; 15(16):2457-67. PubMed ID: 16825286
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
    Oda H; Sato T; Kunishima S; Nakagawa K; Izawa K; Hiejima E; Kawai T; Yasumi T; Doi H; Katamura K; Numabe H; Okamoto S; Nakase H; Hijikata A; Ohara O; Suzuki H; Morisaki H; Morisaki T; Nunoi H; Hattori S; Nishikomori R; Heike T
    Eur J Hum Genet; 2016 Mar; 24(3):408-14. PubMed ID: 26059841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
    Sheen VL; Feng Y; Graham D; Takafuta T; Shapiro SS; Walsh CA
    Hum Mol Genet; 2002 Nov; 11(23):2845-54. PubMed ID: 12393796
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
    Reinstein E; Frentz S; Morgan T; García-Miñaúr S; Leventer RJ; McGillivray G; Pariani M; van der Steen A; Pope M; Holder-Espinasse M; Scott R; Thompson EM; Robertson T; Coppin B; Siegel R; Bret Zurita M; Rodríguez JI; Morales C; Rodrigues Y; Arcas J; Saggar A; Horton M; Zackai E; Graham JM; Rimoin DL; Robertson SP
    Eur J Hum Genet; 2013 May; 21(5):494-502. PubMed ID: 23032111
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
    Robertson SP; Twigg SR; Sutherland-Smith AJ; Biancalana V; Gorlin RJ; Horn D; Kenwrick SJ; Kim CA; Morava E; Newbury-Ecob R; Orstavik KH; Quarrell OW; Schwartz CE; Shears DJ; Suri M; Kendrick-Jones J; Wilkie AO;
    Nat Genet; 2003 Apr; 33(4):487-91. PubMed ID: 12612583
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A meckelin-filamin A interaction mediates ciliogenesis.
    Adams M; Simms RJ; Abdelhamed Z; Dawe HR; Szymanska K; Logan CV; Wheway G; Pitt E; Gull K; Knowles MA; Blair E; Cross SH; Sayer JA; Johnson CA
    Hum Mol Genet; 2012 Mar; 21(6):1272-86. PubMed ID: 22121117
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.