BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 29449050)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
    Cannaerts E; Shukla A; Hasanhodzic M; Alaerts M; Schepers D; Van Laer L; Girisha KM; Hojsak I; Loeys B; Verstraeten A
    BMC Med Genet; 2018 Aug; 19(1):140. PubMed ID: 30089473
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
    Ritelli M; Morlino S; Giacopuzzi E; Carini G; Cinquina V; Chiarelli N; Majore S; Colombi M; Castori M
    Am J Med Genet A; 2017 Jan; 173(1):169-176. PubMed ID: 27739212
    [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. 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]  

    [Next]    [New Search]
    of 14.