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177 related items for PubMed ID: 18671281

  • 1. Molecular study of 33 families with Fraser syndrome new data and mutation review.
    van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ.
    Am J Med Genet A; 2008 Sep 01; 146A(17):2252-7. PubMed ID: 18671281
    [Abstract] [Full Text] [Related]

  • 2. Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.
    De Jong A, Warren M, Rehrauer W, Harter J, Baraboo M, Chandra S, Pauli RM, Singer DB, Fritsch MK.
    Pediatr Dev Pathol; 2008 Sep 01; 11(3):220-5. PubMed ID: 17990920
    [Abstract] [Full Text] [Related]

  • 3. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
    Slavotinek A, Li C, Sherr EH, Chudley AE.
    Am J Med Genet A; 2006 Sep 15; 140(18):1909-14. PubMed ID: 16894541
    [Abstract] [Full Text] [Related]

  • 4. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
    Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ.
    Nat Genet; 2005 May 15; 37(5):520-5. PubMed ID: 15838507
    [Abstract] [Full Text] [Related]

  • 5. Mutations in GRIP1 cause Fraser syndrome.
    Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM.
    J Med Genet; 2012 May 15; 49(5):303-6. PubMed ID: 22510445
    [Abstract] [Full Text] [Related]

  • 6. Fraser Syndrome.
    Saleem AA, Siddiqui SN.
    J Coll Physicians Surg Pak; 2015 Oct 15; 25 Suppl 2():S124-6. PubMed ID: 26522198
    [Abstract] [Full Text] [Related]

  • 7. Fraser syndrome without cryptophthalmos: Two cases.
    Boussion S, Lyonnet S, Van Der Zwaag B, Vogel MJ, Smol T, Mezel A, Manouvrier-Hanu S, Vincent-Delorme C, Vanlerberghe C.
    Eur J Med Genet; 2020 Apr 15; 63(4):103839. PubMed ID: 31923588
    [Abstract] [Full Text] [Related]

  • 8. Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
    Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M.
    Am J Med Genet A; 2007 Feb 01; 143A(3):241-7. PubMed ID: 17163535
    [Abstract] [Full Text] [Related]

  • 9. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
    Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I.
    Gene; 2013 May 15; 520(2):194-7. PubMed ID: 23473829
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.
    Ozemri Sag S, Gorukmez O, Gorukmez O, Ture M, Sahinturk S, Topak A, Gulten T, Schanze D, Yakut T, Zenker M.
    Genet Couns; 2015 May 15; 26(1):21-7. PubMed ID: 26043503
    [Abstract] [Full Text] [Related]

  • 11. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
    McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ.
    Nat Genet; 2003 Jun 15; 34(2):203-8. PubMed ID: 12766769
    [Abstract] [Full Text] [Related]

  • 12. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.
    Kiyozumi D, Sugimoto N, Sekiguchi K.
    Proc Natl Acad Sci U S A; 2006 Aug 08; 103(32):11981-6. PubMed ID: 16880404
    [Abstract] [Full Text] [Related]

  • 13. Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
    Nayak SS, Salian S, Shukla A, Mathew M, Girisha KM.
    Congenit Anom (Kyoto); 2017 May 08; 57(3):83-85. PubMed ID: 27624506
    [Abstract] [Full Text] [Related]

  • 14. Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
    Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H.
    Exp Eye Res; 2019 Apr 08; 181():302-312. PubMed ID: 30802441
    [Abstract] [Full Text] [Related]

  • 15. A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
    Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z.
    Hum Mol Genet; 2018 Jul 01; 27(13):2357-2366. PubMed ID: 29688405
    [Abstract] [Full Text] [Related]

  • 16. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
    Petrou P, Makrygiannis AK, Chalepakis G.
    Connect Tissue Res; 2008 Jul 01; 49(3):277-82. PubMed ID: 18661360
    [Abstract] [Full Text] [Related]

  • 17. AMACO is a component of the basement membrane-associated Fraser complex.
    Richardson RJ, Gebauer JM, Zhang JL, Kobbe B, Keene DR, Karlsen KR, Richetti S, Wohl AP, Sengle G, Neiss WF, Paulsson M, Hammerschmidt M, Wagener R.
    J Invest Dermatol; 2014 May 01; 134(5):1313-1322. PubMed ID: 24232570
    [Abstract] [Full Text] [Related]

  • 18. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
    Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M.
    Am J Med Genet A; 2013 Dec 01; 161A(12):3012-7. PubMed ID: 24115501
    [Abstract] [Full Text] [Related]

  • 19. Fraser syndrome: review of the literature illustrated by a historical adult case.
    Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B.
    Int J Oral Maxillofac Surg; 2020 Oct 01; 49(10):1245-1253. PubMed ID: 31982235
    [Abstract] [Full Text] [Related]

  • 20. The role of Fras1/Frem proteins in the structure and function of basement membrane.
    Pavlakis E, Chiotaki R, Chalepakis G.
    Int J Biochem Cell Biol; 2011 Apr 01; 43(4):487-95. PubMed ID: 21182980
    [Abstract] [Full Text] [Related]

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