BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

291 related articles for article (PubMed ID: 26471271)

  • 1. 47 patients with FLNA associated periventricular nodular heterotopia.
    Lange M; Kasper B; Bohring A; Rutsch F; Kluger G; Hoffjan S; Spranger S; Behnecke A; Ferbert A; Hahn A; Oehl-Jaschkowitz B; Graul-Neumann L; Diepold K; Schreyer I; Bernhard MK; Mueller F; Siebers-Renelt U; Beleza-Meireles A; Uyanik G; Janssens S; Boltshauser E; Winkler J; Schuierer G; Hehr U
    Orphanet J Rare Dis; 2015 Oct; 10():134. PubMed ID: 26471271
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
    Fallil Z; Pardoe H; Bachman R; Cunningham B; Parulkar I; Shain C; Poduri A; Knowlton R; Kuzniecky R;
    Epilepsy Behav; 2015 Oct; 51():321-7. PubMed ID: 26340046
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
    Ieda D; Hori I; Nakamura Y; Ohshita H; Negishi Y; Shinohara T; Hattori A; Kato T; Inukai S; Kitamura K; Kawai T; Ohara O; Kunishima S; Saitoh S
    Brain Dev; 2018 Jun; 40(6):489-492. PubMed ID: 29449050
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic manifestations in
    Loft Nagel J; Jønch AE; Nguyen NTTN; Bygum A
    BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35414575
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
    Liu W; Yan B; An D; Xiao J; Hu F; Zhou D
    Epilepsy Res; 2017 Jul; 133():33-40. PubMed ID: 28411558
    [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. A review of filamin A mutations and associated interstitial lung disease.
    Sasaki E; Byrne AT; Phelan E; Cox DW; Reardon W
    Eur J Pediatr; 2019 Feb; 178(2):121-129. PubMed ID: 30547349
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
    Lu YT; Hsu CY; Liu YT; Chan CK; Chuang YC; Lin CH; Chang KP; Ho CJ; Ng CC; Lim KS; Tsai MH
    Biomed J; 2022 Jun; 45(3):542-548. PubMed ID: 35660364
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Germline mosaicism in X-linked periventricular nodular heterotopia.
    LaPointe MM; Spriggs EL; Mhanni AA
    BMC Neurol; 2014 Jun; 14():125. PubMed ID: 24906659
    [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. Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
    Chen MH; Choudhury S; Hirata M; Khalsa S; Chang B; Walsh CA
    Am J Med Genet A; 2018 Feb; 176(2):337-350. PubMed ID: 29334594
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel no-stop FLNA mutation causes multi-organ involvement in males.
    Oegema R; Hulst JM; Theuns-Valks SD; van Unen LM; Schot R; Mancini GM; Schipper ME; de Wit MC; Sibbles BJ; de Coo IF; Nanninga V; Hofstra RM; Halley DJ; Brooks AS
    Am J Med Genet A; 2013 Sep; 161A(9):2376-84. PubMed ID: 23873601
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
    Paliotti K; Dassi C; Berrahmoune S; Bejaran ML; Davila CEV; Martinez AB; Estupiñà MCF; Mancardi MM; Riva A; Giacomini T; Severino M; Romaniello R; Dubeau F; Srour M; Myers KA
    J Neurol; 2023 Aug; 270(8):3934-3945. PubMed ID: 37119372
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
    Tanner LM; Kunishima S; Lehtinen E; Helin T; Volmonen K; Lassila R; Pöyhönen M
    Am J Med Genet A; 2022 Jun; 188(6):1716-1722. PubMed ID: 35156755
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
    Pelizzo G; Collura M; Puglisi A; Pappalardo MP; Agolini E; Novelli A; Piccione M; Cacace C; Bussani R; Corsello G; Calcaterra V
    BMC Pediatr; 2019 Mar; 19(1):86. PubMed ID: 30922288
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
    Oda H; Sato T; Kunishima S; Nakagawa K; Izawa K; Hiejima E; Kawai T; Yasumi T; Doi H; Katamura K; Numabe H; Okamoto S; Nakase H; Hijikata A; Ohara O; Suzuki H; Morisaki H; Morisaki T; Nunoi H; Hattori S; Nishikomori R; Heike T
    Eur J Hum Genet; 2016 Mar; 24(3):408-14. PubMed ID: 26059841
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 15.