BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

354 related articles for article (PubMed ID: 30547349)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.
    Shah AS; Black ED; Simon DM; Gambello MJ; Garber KB; Iannucci GJ; Riedesel EL; Kasi AS
    Pediatr Allergy Immunol Pulmonol; 2021 Mar; 34(1):7-14. PubMed ID: 33734874
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
    Desnous B; Carles G; Riccardi F; Stremler N; Baravalle M; El-Louali F; Testud B; Milh M
    Prenat Diagn; 2024 Mar; 44(3):364-368. PubMed ID: 38148030
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease.
    Yoshii K; Matsumoto H; Hirasawa K; Sakauchi M; Hara H; Ito S; Osawa M; Fukami M; Horikawa R; Nagata S
    Respir Investig; 2019 Jul; 57(4):395-398. PubMed ID: 30987847
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.
    Meliota G; Vairo U; Ficarella R; Milella L; Faienza MF; D'Amato G
    Adv Neonatal Care; 2022 Apr; 22(2):125-131. PubMed ID: 33852449
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Lung disease associated with filamin A gene mutation: a case report.
    Eltahir S; Ahmad KS; Al-Balawi MM; Bukhamsien H; Al-Mobaireek K; Alotaibi W; Al-Shamrani A
    J Med Case Rep; 2016 Apr; 10():97. PubMed ID: 27091362
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
    van Kogelenberg M; Clark AR; Jenkins Z; Morgan T; Anandan A; Sawyer GM; Edwards M; Dudding T; Homfray T; Castle B; Tolmie J; Stewart F; Kivuva E; Pilz DT; Gabbett M; Sutherland-Smith AJ; Robertson SP
    J Mol Med (Berl); 2015 Jul; 93(7):773-82. PubMed ID: 25686753
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Case report: Filamin A mutation lung disease recognized in an 11-year-old child.
    West T; Williamson N; Akhter J
    Pediatr Pulmonol; 2023 Jan; 58(1):61-65. PubMed ID: 36174535
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α
    Berrou E; Adam F; Lebret M; Planche V; Fergelot P; Issertial O; Coupry I; Bordet JC; Nurden P; Bonneau D; Colin E; Goizet C; Rosa JP; Bryckaert M
    Arterioscler Thromb Vasc Biol; 2017 Jun; 37(6):1087-1097. PubMed ID: 28428218
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation.
    Liu W; An D; Niu R; Gong Q; Zhou D
    Neuroimage Clin; 2018; 17():109-114. PubMed ID: 29062687
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.