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173 related items for PubMed ID: 11337747

  • 1. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
    Lower KM, Gecz J.
    Am J Med Genet; 2001 Apr 15; 100(1):43-8. PubMed ID: 11337747
    [Abstract] [Full Text] [Related]

  • 2. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
    Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A.
    Nat Genet; 2000 Oct 15; 26(2):247-50. PubMed ID: 11017088
    [Abstract] [Full Text] [Related]

  • 3. Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
    Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GR, Mulley JC.
    Hum Genet; 1999 Jan 15; 104(1):56-63. PubMed ID: 10071193
    [Abstract] [Full Text] [Related]

  • 4. The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.
    Kutsche K, Gal A.
    Cytogenet Cell Genet; 2001 Jan 15; 95(3-4):196-201. PubMed ID: 12063400
    [Abstract] [Full Text] [Related]

  • 5. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.
    Rosenberger G, Jantke I, Gal A, Kutsche K.
    Hum Mol Genet; 2003 Jan 15; 12(2):155-67. PubMed ID: 12499396
    [Abstract] [Full Text] [Related]

  • 6. 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 12; 64(1):63-8. PubMed ID: 8826450
    [Abstract] [Full Text] [Related]

  • 7. MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.
    Golla A, Rost I, Jedele KB, Albert A, Murken J, Holinski-Feder E.
    Am J Med Genet; 2002 Jan 01; 107(1):18-25. PubMed ID: 11807862
    [Abstract] [Full Text] [Related]

  • 8. Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis.
    Nodé-Langlois R, Muller D, Boda B.
    J Cell Sci; 2006 Dec 01; 119(Pt 23):4986-93. PubMed ID: 17105769
    [Abstract] [Full Text] [Related]

  • 9. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
    Ramakers GJ, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp HJ, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl MR, Fischer KD, Krugers HJ, Lipp HP, van Galen E, Kutsche K.
    Hum Mol Genet; 2012 Jan 15; 21(2):268-86. PubMed ID: 21989057
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 34(4):470-4. PubMed ID: 2624254
    [Abstract] [Full Text] [Related]

  • 11. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.
    Gécz J, Barnett S, Liu J, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Baltazar R, Grunn A, Nagaraja R, Gilliam C, Peltonen L, Sutherland GR, Baron M, Mulley JC.
    Genomics; 1999 Dec 15; 62(3):356-68. PubMed ID: 10644433
    [Abstract] [Full Text] [Related]

  • 12. Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mental retardation spanish patients.
    Rifé M, Mallolas J, Castellví-Bel S, Badenas C, Jiménez D, Milà M.
    Am J Med Genet; 2000 Oct 23; 94(5):389-91. PubMed ID: 11050624
    [No Abstract] [Full Text] [Related]

  • 13. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
    Jahani-Asl A, Cheng C, Zhang C, Bonni A.
    Neurobiol Dis; 2016 Dec 23; 96():227-235. PubMed ID: 27633282
    [Abstract] [Full Text] [Related]

  • 14. 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 23; 32(4):661-5. PubMed ID: 12415272
    [Abstract] [Full Text] [Related]

  • 15. Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
    Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H.
    J Med Genet; 1998 Oct 23; 35(10):801-5. PubMed ID: 9783701
    [Abstract] [Full Text] [Related]

  • 16. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
    Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C.
    Am J Med Genet; 2000 Aug 14; 93(4):294-8. PubMed ID: 10946356
    [Abstract] [Full Text] [Related]

  • 17. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
    Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A.
    Nat Genet; 2002 Apr 14; 30(4):436-40. PubMed ID: 11889465
    [Abstract] [Full Text] [Related]

  • 18. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
    Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T.
    J Hum Genet; 2011 Aug 14; 56(8):561-5. PubMed ID: 21633362
    [Abstract] [Full Text] [Related]

  • 19. Gene localization in Börjeson-Forssman-Lehmann syndrome and other X-linked mental retardation syndromes.
    Chudley AE.
    Am J Med Genet; 1991 Aug 14; 38(2-3):248. PubMed ID: 2018066
    [No Abstract] [Full Text] [Related]

  • 20. 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 14; 43(3):238-43. PubMed ID: 15994862
    [Abstract] [Full Text] [Related]

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