These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

539 related articles for article (PubMed ID: 16417552)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Autosomal recessive form of periventricular heterotopia.
    Sheen VL; Topçu M; Berkovic S; Yalnizoglu D; Blatt I; Bodell A; Hill RS; Ganesh VS; Cherry TJ; Shugart YY; Walsh CA
    Neurology; 2003 Apr; 60(7):1108-12. PubMed ID: 12682315
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
    Gérard-Blanluet M; Sheen V; Machinis K; Neal J; Apse K; Danan C; Sinico M; Brugières P; Mage K; Ratsimbazafy L; Elbez A; Janaud JC; Amselem S; Walsh C; Encha-Razavi F
    Am J Med Genet A; 2006 May; 140(10):1041-6. PubMed ID: 16596669
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
    Poussaint TY; Fox JW; Dobyns WB; Radtke R; Scheffer IE; Berkovic SF; Barnes PD; Huttenlocher PR; Walsh CA
    Pediatr Radiol; 2000 Nov; 30(11):748-55. PubMed ID: 11100490
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
    Moro F; Carrozzo R; Veggiotti P; Tortorella G; Toniolo D; Volzone A; Guerrini R
    Neurology; 2002 Mar; 58(6):916-21. PubMed ID: 11914408
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
    Fox JW; Lamperti ED; Ekşioğlu YZ; Hong SE; Feng Y; Graham DA; Scheffer IE; Dobyns WB; Hirsch BA; Radtke RA; Berkovic SF; Huttenlocher PR; Walsh CA
    Neuron; 1998 Dec; 21(6):1315-25. PubMed ID: 9883725
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 27.