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.
11. 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]
12. 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]
13. 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]
15. Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. Grosso S; Fichera M; Galesi O; Luciano D; Pucci L; Giardini F; Berardi R; Balestri P Dev Med Child Neurol; 2008 Jun; 50(6):473-6. PubMed ID: 18384621 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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] [Next] [New Search]