176 related articles for article (PubMed ID: 22740120)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. A structural basis for reading fluency: white matter defects in a genetic brain malformation.
Chang BS; Katzir T; Liu T; Corriveau K; Barzillai M; Apse KA; Bodell A; Hackney D; Alsop D; Wong ST; Walsh CA
Neurology; 2007 Dec; 69(23):2146-54. PubMed ID: 18056578
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
