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Journal Abstract Search

408 related items for PubMed ID: 27633282

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  • 3. 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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  • 4. 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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  • 5. 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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  • 6. 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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  • 7. 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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  • 8. Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
    McRae HM, Eccles S, Whitehead L, Alexander WS, Gécz J, Thomas T, Voss AK.
    Development; 2020 Oct 23; 147(21):. PubMed ID: 32994169
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  • 9. Loss of PHF6 leads to aberrant development of human neuron-like cells.
    Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C.
    Sci Rep; 2020 Nov 04; 10(1):19030. PubMed ID: 33149206
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  • 10. A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
    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 22; 11(4):419-425. PubMed ID: 30630810
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  • 11. miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6.
    Franzoni E, Booker SA, Parthasarathy S, Rehfeld F, Grosser S, Srivatsa S, Fuchs HR, Tarabykin V, Vida I, Wulczyn FG.
    Elife; 2015 Jan 03; 4():. PubMed ID: 25556700
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  • 12. PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
    Rasool D, Burban A, Sharanek A, Madrigal A, Hu J, Yan K, Qu D, Voss AK, Slack RS, Thomas T, Bonni A, Picketts DJ, Soleimani VD, Najafabadi HS, Jahani-Asl A.
    EMBO Rep; 2024 Mar 03; 25(3):1256-1281. PubMed ID: 38429579
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  • 13. 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 03; 70(9):1403-1409. PubMed ID: 32399860
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  • 14. The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain.
    Zhang C, Mejia LA, Huang J, Valnegri P, Bennett EJ, Anckar J, Jahani-Asl A, Gallardo G, Ikeuchi Y, Yamada T, Rudnicki M, Harper JW, Bonni A.
    Neuron; 2013 Jun 19; 78(6):986-93. PubMed ID: 23791194
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  • 15. 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 19; 149A(2):246-50. PubMed ID: 19161141
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  • 16. 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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  • 17. 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 12; 7(8):858-71. PubMed ID: 17698420
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  • 18. 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 12; 102(3):182-190. PubMed ID: 35662002
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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 12; 166C(3):257-61. PubMed ID: 25081545
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  • 20. Börjeson-Forssman-Lehmann syndrome: A case report.
    Pan L, Yin F, Chen S, Xiong J, He F, Peng J.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Feb 28; 48(2):294-301. PubMed ID: 36999477
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