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Journal Abstract Search

159 related items for PubMed ID: 15994862

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  • 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
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  • 5. 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
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  • 8. Distinct phenotype of PHF6 deletions in females.
    Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
    Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
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  • 9. 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
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  • 13. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
    Carter MT, Picketts DJ, Hunter AG, Graham GE.
    Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
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  • 18. Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
    McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK.
    PLoS Genet; 2024 Oct; 20(10):e1011428. PubMed ID: 39405291
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  • 19. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
    Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M.
    Clin Genet; 2004 Mar; 65(3):226-32. PubMed ID: 14756673
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