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Journal Abstract Search

175 related items for PubMed ID: 19161141

  • 1. 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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  • 2. 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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  • 4. 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
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  • 7. 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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  • 9. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
    Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.
    Epilepsy Behav; 2017 Apr; 69():104-109. PubMed ID: 28237832
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  • 11. 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 12; 30(7):575-594. PubMed ID: 33772537
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  • 12. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
    Cheng C, Deng PY, Ikeuchi Y, Yuede C, Li D, Rensing N, Huang J, Baldridge D, Maloney SE, Dougherty JD, Constantino J, Jahani-Asl A, Wong M, Wozniak DF, Wang T, Klyachko VA, Bonni A.
    Cell Rep; 2018 Nov 06; 25(6):1404-1414.e6. PubMed ID: 30403997
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  • 13. 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 06; 24(5):610-4. PubMed ID: 19264739
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  • 14. 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 04; 289(14):10069-83. PubMed ID: 24554700
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  • 15. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
    Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C.
    Clin Genet; 2022 Sep 04; 102(3):182-190. PubMed ID: 35662002
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  • 16. 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 04; 20(10):e1011428. PubMed ID: 39405291
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  • 17. [A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].
    Que YX, Li P, Hu SX.
    Zhonghua Er Ke Za Zhi; 2021 May 02; 59(5):414-416. PubMed ID: 33902228
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  • 19. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
    Miyake N, Tsurusaki Y, Matsumoto N.
    Am J Med Genet C Semin Med Genet; 2014 Sep 02; 166C(3):257-61. PubMed ID: 25081545
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  • 20. 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 02; 145(6):819-25. PubMed ID: 15580208
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