BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 20844545)

  • 41. 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]  

  • 42. 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]  

  • 43. 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]  

  • 44. Epilepsy and genetic malformations of the cerebral cortex.
    Guerrini R; Carrozzo R
    Am J Med Genet; 2001; 106(2):160-73. PubMed ID: 11579436
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
    Clark AR; Sawyer GM; Robertson SP; Sutherland-Smith AJ
    Hum Mol Genet; 2009 Dec; 18(24):4791-800. PubMed ID: 19773341
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
    Gargiulo A; Auricchio R; Barone MV; Cotugno G; Reardon W; Milla PJ; Ballabio A; Ciccodicola A; Auricchio A
    Am J Hum Genet; 2007 Apr; 80(4):751-8. PubMed ID: 17357080
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
    Santos HH; Garcia PP; Pereira L; Leão LL; Aguiar RA; Lana AM; Carvalho MR; Aguiar MJ
    Am J Med Genet A; 2010 Mar; 152A(3):726-31. PubMed ID: 20186808
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
    Moro F; Carrozzo R; Veggiotti P; Tortorella G; Toniolo D; Volzone A; Guerrini R
    Neurology; 2002 Mar; 58(6):916-21. PubMed ID: 11914408
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).
    Balci S; Unal A; Engiz O; Aktas D; Liehr T; Gross M; Mrasek K; Saygi S
    Dev Med Child Neurol; 2007 Mar; 49(3):219-24. PubMed ID: 17355480
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
    Mandelstam SA; Leventer RJ; Sandow A; McGillivray G; van Kogelenberg M; Guerrini R; Robertson S; Berkovic SF; Jackson GD; Scheffer IE
    AJNR Am J Neuroradiol; 2013 Feb; 34(2):432-8. PubMed ID: 23348762
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. 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]  

  • 55. Combined cardiological and neurological abnormalities due to filamin A gene mutation.
    de Wit MC; de Coo IF; Lequin MH; Halley DJ; Roos-Hesselink JW; Mancini GM
    Clin Res Cardiol; 2011 Jan; 100(1):45-50. PubMed ID: 20730588
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
    Gérard-Blanluet M; Sheen V; Machinis K; Neal J; Apse K; Danan C; Sinico M; Brugières P; Mage K; Ratsimbazafy L; Elbez A; Janaud JC; Amselem S; Walsh C; Encha-Razavi F
    Am J Med Genet A; 2006 May; 140(10):1041-6. PubMed ID: 16596669
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Bernard-Soulier syndrome. An important differential diagnosis in chronic thrombocytopenia with bleeding complications].
    Greinacher A; Zellner A; Brangenberg R; Kiefel V; Mueller-Eckhardt C
    Monatsschr Kinderheilkd; 1993 Jun; 141(6):483-6. PubMed ID: 8336744
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Periventricular nodular heterotopia: report of a pediatric series.
    Spalice A; Taddeucci G; Perla FM; Pascali MP; Iannetti P
    J Child Neurol; 2002 Apr; 17(4):300-4. PubMed ID: 12088088
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.