BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 16521297)

  • 1. Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
    Gomez-Garre P; Serratosa JM
    Hum Genet; 2005 Dec; 118(3-4):545. PubMed ID: 16521297
    [No Abstract]   [Full Text] [Related]  

  • 2. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
    Gómez-Garre P; Seijo M; Gutiérrez-Delicado E; Castro del Río M; de la Torre C; Gómez-Abad C; Morales-Corraliza J; Puig M; Serratosa JM
    J Med Genet; 2006 Mar; 43(3):232-7. PubMed ID: 15994863
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Filamin a, periventricular nodular heterotopia, and West syndrome.
    Robertson SP
    Epilepsia; 2006 Jun; 47(6):1082; author reply 1082-3. PubMed ID: 16822260
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 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. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
    Kakita A; Hayashi S; Moro F; Guerrini R; Ozawa T; Ono K; Kameyama S; Walsh CA; Takahashi H
    Acta Neuropathol; 2002 Dec; 104(6):649-57. PubMed ID: 12410386
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
    Hehr U; Hehr A; Uyanik G; Phelan E; Winkler J; Reardon W
    J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
    Kunishima S; Ito-Yamamura Y; Hayakawa A; Yamamoto T; Saito H
    J Hum Genet; 2010 Dec; 55(12):844-6. PubMed ID: 20844545
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
    Guerrini R; Mei D; Sisodiya S; Sicca F; Harding B; Takahashi Y; Dorn T; Yoshida A; Campistol J; Krämer G; Moro F; Dobyns WB; Parrini E
    Neurology; 2004 Jul; 63(1):51-6. PubMed ID: 15249610
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
    Masurel-Paulet A; Haan E; Thompson EM; Goizet C; Thauvin-Robinet C; Tai A; Kennedy D; Smith G; Khong TY; Solé G; Guerineau E; Coupry I; Huet F; Robertson S; Faivre L
    Eur J Med Genet; 2011; 54(1):25-8. PubMed ID: 20888935
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 55(5):313-8. PubMed ID: 22366253
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Periventricular nodular heterotopia: report of a pediatric series.
    Spalice A; Taddeucci G; Perla FM; Pascali MP; Iannetti P
    J Child Neurol; 2002 Apr; 17(4):300-4. PubMed ID: 12088088
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lung disease in FLNA mutation: confirmatory report.
    de Wit MC; Tiddens HA; de Coo IF; Mancini GM
    Eur J Med Genet; 2011; 54(3):299-300. PubMed ID: 21194575
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 80(12):1394-8. PubMed ID: 19917821
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.
    Lu J; Tiao G; Folkerth R; Hecht J; Walsh C; Sheen V
    J Comp Neurol; 2006 Jan; 494(3):476-84. PubMed ID: 16320251
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
    Carabalona A; Beguin S; Pallesi-Pocachard E; Buhler E; Pellegrino C; Arnaud K; Hubert P; Oualha M; Siffroi JP; Khantane S; Coupry I; Goizet C; Gelot AB; Represa A; Cardoso C
    Hum Mol Genet; 2012 Mar; 21(5):1004-17. PubMed ID: 22076441
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.