These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

159 related items for PubMed ID: 22510445

  • 1. 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; 49(5):303-6. PubMed ID: 22510445
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 08; 161A(12):3012-7. PubMed ID: 24115501
    [Abstract] [Full Text] [Related]

  • 6. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.
    Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ, Huganir RL, Adams RH.
    Nat Genet; 2004 Feb 08; 36(2):172-7. PubMed ID: 14730302
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 134(5):1313-1322. PubMed ID: 24232570
    [Abstract] [Full Text] [Related]

  • 8. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
    Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F.
    J Am Soc Nephrol; 2014 Sep 08; 25(9):1917-22. PubMed ID: 24700879
    [Abstract] [Full Text] [Related]

  • 9. Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1.
    Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M.
    J Mol Biol; 2008 Feb 01; 375(5):1457-68. PubMed ID: 18155042
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
    Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M.
    Am J Med Genet A; 2020 Jul 01; 182(7):1681-1689. PubMed ID: 32488952
    [Abstract] [Full Text] [Related]

  • 13. The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
    Koprulu M, Kumare A, Bibi A, Malik S, Tolun A.
    Am J Med Genet A; 2021 Jun 01; 185(6):1858-1863. PubMed ID: 33709629
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 63(4):103839. PubMed ID: 31923588
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No 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 Apr 01; 49(3):277-82. PubMed ID: 18661360
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 34(2):203-8. PubMed ID: 12766769
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 01; 57(3):83-85. PubMed ID: 27624506
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.