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Journal Abstract Search

207 related items for PubMed ID: 17668388

  • 1. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
    Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S.
    Am J Hum Genet; 2007 Aug; 81(2):388-96. PubMed ID: 17668388
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  • 4. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
    Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S.
    J Clin Invest; 2005 Sep; 115(9):2373-81. PubMed ID: 16127465
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  • 5. [Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].
    Yang W, Tan FQ, Sun M, Zeng X, Liu J, Liu GY, Luo HY, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):61-3. PubMed ID: 14767912
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  • 6. Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
    Ishino T, Takeno S, Hirakawa K.
    Eur J Med Genet; 2015 Sep; 58(9):427-32. PubMed ID: 26211601
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  • 9. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
    Potti TA, Petty EM, Lesperance MM.
    Hum Mutat; 2011 Aug; 32(8):877-86. PubMed ID: 21538686
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  • 11. Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.
    Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N.
    Clin Genet; 2012 Dec; 82(6):514-20. PubMed ID: 22288654
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  • 12. P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
    Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A.
    Eur J Med Genet; 2008 Dec; 51(4):351-7. PubMed ID: 18440889
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  • 13. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
    Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T.
    Fertil Steril; 2004 Apr; 81(4):1137-9. PubMed ID: 15066478
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  • 15. Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
    Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, Gassner I, Rusu C, Janecke AR, Dathe K, Mundlos S.
    PLoS Genet; 2009 Nov; 5(11):e1000747. PubMed ID: 19956691
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  • 17. A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
    Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, Plöger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P.
    PLoS Genet; 2013 Nov; 9(10):e1003846. PubMed ID: 24098149
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  • 19. 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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