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Journal Abstract Search

319 related items for PubMed ID: 10932187

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  • 2. 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
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  • 3. 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
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  • 6. The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
    Raz R, Stricker S, Gazzerro E, Clor JL, Witte F, Nistala H, Zabski S, Pereira RC, Stadmeyer L, Wang X, Gowen L, Sleeman MW, Yancopoulos GD, Canalis E, Mundlos S, Valenzuela DM, Economides AN.
    Development; 2008 May; 135(9):1713-23. PubMed ID: 18353862
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  • 7. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
    Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S.
    Dev Dyn; 2004 Feb; 229(2):400-10. PubMed ID: 14745966
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  • 13. Robinow syndrome.
    Patton MA, Afzal AR.
    J Med Genet; 2002 May; 39(5):305-10. PubMed ID: 12011143
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  • 15. 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
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  • 16. Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.
    Stricker S, Verhey van Wijk N, Witte F, Brieske N, Seidel K, Mundlos S.
    Dev Dyn; 2006 Dec; 235(12):3456-65. PubMed ID: 17061261
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  • 19. Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.
    Yoda A, Oishi I, Minami Y.
    J Recept Signal Transduct Res; 2003 Feb; 23(1):1-15. PubMed ID: 12680586
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  • 20. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
    Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.
    Am J Med Genet A; 2008 Nov 01; 146A(21):2804-9. PubMed ID: 18831060
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