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Journal Abstract Search

342 related items for PubMed ID: 24380767

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 166C(3):257-61. PubMed ID: 25081545
    [Abstract] [Full Text] [Related]

  • 5. 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
    [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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
    Garcia-Melendo C, Roé E, Rodríguez-Santiago B, Amat-Samaranch V, Cubiró X, Puig L, Boronat S.
    Pediatr Dermatol; 2021 Jul 22; 38(4):919-925. PubMed ID: 34041787
    [Abstract] [Full Text] [Related]

  • 9. 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 22; 102(3):182-190. PubMed ID: 35662002
    [Abstract] [Full Text] [Related]

  • 10. 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 22; 69():104-109. PubMed ID: 28237832
    [Abstract] [Full Text] [Related]

  • 11. [Börjeson-Forssman-Lehmann syndrome].
    Kubota T.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():410-2. PubMed ID: 17022575
    [No Abstract] [Full Text] [Related]

  • 12. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
    Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.
    Am J Med Genet A; 2016 Oct 28; 170(10):2662-70. PubMed ID: 27264538
    [Abstract] [Full Text] [Related]

  • 13. 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 28; 43(3):238-43. PubMed ID: 15994862
    [Abstract] [Full Text] [Related]

  • 14. 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 28; 24(5):610-4. PubMed ID: 19264739
    [Abstract] [Full Text] [Related]

  • 15. An unusual linear hypermelanosis reflecting lyonization in women with Börjeson-Forssman-Lehmann syndrome.
    Happle R.
    J Eur Acad Dermatol Venereol; 2016 Feb 28; 30(2):323-4. PubMed ID: 25209262
    [No Abstract] [Full Text] [Related]

  • 16. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
    Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ, Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ.
    Hum Mutat; 2013 Nov 28; 34(11):1519-28. PubMed ID: 23929686
    [Abstract] [Full Text] [Related]

  • 17. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.
    Vergano SS, Deardorff MA.
    Am J Med Genet C Semin Med Genet; 2014 Sep 28; 166C(3):252-6. PubMed ID: 25169447
    [Abstract] [Full Text] [Related]

  • 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 28; 20(10):e1011428. PubMed ID: 39405291
    [Abstract] [Full Text] [Related]

  • 19. [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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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