BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 22238415)

  • 1. FLNA genomic rearrangements cause periventricular nodular heterotopia.
    Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA
    Neurology; 2012 Jan; 78(4):269-78. PubMed ID: 22238415
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
    Cellini E; Vetro A; Conti V; Marini C; Doccini V; Clementella C; Parrini E; Giglio S; Della Monica M; Fichera M; Musumeci SA; Guerrini R
    Eur J Hum Genet; 2019 Jun; 27(6):909-918. PubMed ID: 30683929
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 23(1):346. PubMed ID: 37422633
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
    Mandelstam SA; Leventer RJ; Sandow A; McGillivray G; van Kogelenberg M; Guerrini R; Robertson S; Berkovic SF; Jackson GD; Scheffer IE
    AJNR Am J Neuroradiol; 2013 Feb; 34(2):432-8. PubMed ID: 23348762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Deletion of filamin A in two female patients with periventricular nodular heterotopia.
    Chardon JW; Mignot C; Aradhya S; Keren B; Afenjar A; Kaminska A; Beldjord C; Héron D; Boycott KM
    Am J Med Genet A; 2012 Jun; 158A(6):1512-6. PubMed ID: 22522697
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.