BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 12415272)

  • 1. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
    Lower KM; Turner G; Kerr BA; Mathews KD; Shaw MA; Gedeon AK; Schelley S; Hoyme HE; White SM; Delatycki MB; Lampe AK; Clayton-Smith J; Stewart H; van Ravenswaay CM; de Vries BB; Cox B; Grompe M; Ross S; Thomas P; Mulley JC; Gécz J
    Nat Genet; 2002 Dec; 32(4):661-5. PubMed ID: 12415272
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
    Mangelsdorf M; Chevrier E; Mustonen A; Picketts DJ
    J Child Neurol; 2009 May; 24(5):610-4. PubMed ID: 19264739
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.
    Voss AK; Gamble R; Collin C; Shoubridge C; Corbett M; Gécz J; Thomas T
    Gene Expr Patterns; 2007 Oct; 7(8):858-71. PubMed ID: 17698420
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
    Visootsak J; Rosner B; Dykens E; Schwartz C; Hahn K; White SM; Szeftel R; Graham JM
    J Pediatr; 2004 Dec; 145(6):819-25. PubMed ID: 15580208
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.
    Gedeon AK; Kozman HM; Robinson H; Pilia G; Schlessinger D; Turner G; Mulley JC
    Am J Med Genet; 1996 Jul; 64(1):63-8. PubMed ID: 8826450
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
    Jahani-Asl A; Cheng C; Zhang C; Bonni A
    Neurobiol Dis; 2016 Dec; 96():227-235. PubMed ID: 27633282
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Börjeson-Forssman-Lehmann syndrome: further delineation in five cases.
    Ardinger HH; Hanson JW; Zellweger HU
    Am J Med Genet; 1984 Dec; 19(4):653-64. PubMed ID: 6517094
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
    Crawford J; Lower KM; Hennekam RC; Van Esch H; Mégarbané A; Lynch SA; Turner G; Gécz J
    J Med Genet; 2006 Mar; 43(3):238-43. PubMed ID: 15994862
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Linkage localization of Börjeson-Forssman-Lehmann syndrome.
    Mathews KD; Ardinger HH; Nishimura DY; Buetow KH; Murray JC; Bartley JA
    Am J Med Genet; 1989 Dec; 34(4):470-4. PubMed ID: 2624254
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.
    Turner G; Gedeon A; Mulley J; Sutherland G; Rae J; Power K; Arthur I
    Am J Med Genet; 1989 Dec; 34(4):463-9. PubMed ID: 2624253
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Novel Nonsense Mutation of
    Zhang X; Fan Y; Liu X; Zhu MA; Sun Y; Yan H; He Y; Ye X; Gu X; Yu Y
    J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):419-425. PubMed ID: 30630810
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
    Bellad A; Bandari AK; Pandey A; Girimaji SC; Muthusamy B
    J Mol Neurosci; 2020 Sep; 70(9):1403-1409. PubMed ID: 32399860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    Zweier C; Kraus C; Brueton L; Cole T; Degenhardt F; Engels H; Gillessen-Kaesbach G; Graul-Neumann L; Horn D; Hoyer J; Just W; Rauch A; Reis A; Wollnik B; Zeschnigk M; Lüdecke HJ; Wieczorek D
    J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
    Todd MA; Picketts DJ
    J Proteome Res; 2012 Aug; 11(8):4326-37. PubMed ID: 22720776
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
    Liu Z; Li F; Ruan K; Zhang J; Mei Y; Wu J; Shi Y
    J Biol Chem; 2014 Apr; 289(14):10069-83. PubMed ID: 24554700
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.
    Kubota T; Oga S; Ohashi H; Iwamoto Y; Fukushima Y
    Am J Med Genet; 1999 Nov; 87(3):258-61. PubMed ID: 10564881
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
    Gécz J; Turner G; Nelson J; Partington M
    Eur J Hum Genet; 2006 Dec; 14(12):1233-7. PubMed ID: 16912705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
    [TBL] [Abstract][Full Text] [Related]  

  • 19. T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
    Chao MM; Todd MA; Kontny U; Neas K; Sullivan MJ; Hunter AG; Picketts DJ; Kratz CP
    Pediatr Blood Cancer; 2010 Oct; 55(4):722-4. PubMed ID: 20806366
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
    Ahmed R; Sarwar S; Hu J; Cardin V; Qiu LR; Zapata G; Vandeleur L; Yan K; Lerch JP; Corbett MA; Gecz J; Picketts DJ
    Hum Mol Genet; 2021 May; 30(7):575-594. PubMed ID: 33772537
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.