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

178 related items for PubMed ID: 17665217

  • 1. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
    Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR.
    Hum Genet; 2007 Nov; 122(3-4):389-95. PubMed ID: 17665217
    [Abstract] [Full Text] [Related]

  • 2. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
    Afzal AR, Jeffery S.
    Hum Mutat; 2003 Jul; 22(1):1-11. PubMed ID: 12815588
    [Abstract] [Full Text] [Related]

  • 3. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
    Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.
    Nat Genet; 2000 Aug; 25(4):419-22. PubMed ID: 10932186
    [Abstract] [Full Text] [Related]

  • 4. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
    Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S.
    Hum Mol Genet; 2009 Nov 01; 18(21):4013-21. PubMed ID: 19640924
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
    van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG.
    Nat Genet; 2000 Aug 01; 25(4):423-6. PubMed ID: 10932187
    [Abstract] [Full Text] [Related]

  • 7. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
    Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.
    Am J Hum Genet; 2000 Oct 01; 67(4):822-31. PubMed ID: 10986040
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
    Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR.
    Clin Genet; 2009 Apr 01; 75(4):394-400. PubMed ID: 19236432
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Robinow syndrome.
    Patton MA, Afzal AR.
    J Med Genet; 2002 May 01; 39(5):305-10. PubMed ID: 12011143
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
    Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA.
    Am J Med Genet A; 2015 Dec 01; 167A(12):3054-61. PubMed ID: 26284319
    [Abstract] [Full Text] [Related]

  • 18. ROR-Family Receptor Tyrosine Kinases.
    Stricker S, Rauschenberger V, Schambony A.
    Curr Top Dev Biol; 2017 Dec 01; 123():105-142. PubMed ID: 28236965
    [Abstract] [Full Text] [Related]

  • 19. Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
    Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS.
    J Clin Res Pediatr Endocrinol; 2014 Dec 01; 6(2):79-83. PubMed ID: 24932600
    [Abstract] [Full Text] [Related]

  • 20. Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.
    Mehawej C, Chouery E, Maalouf D, Baujat G, Le Merrer M, Cormier-Daire V, Mégarbané A.
    Eur J Med Genet; 2012 Feb 01; 55(2):103-8. PubMed ID: 22178368
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.