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Journal Abstract Search

124 related items for PubMed ID: 17994231

  • 1. Cushing proximal symphalangism and the NOG and GDF5 genes.
    Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB.
    Pediatr Radiol; 2008 Feb; 38(2):209-15. PubMed ID: 17994231
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  • 2. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
    Wang X, Xiao F, Yang Q, Liang B, Tang Z, Jiang L, Zhu Q, Chang W, Jiang J, Jiang C, Ren X, Liu JY, Wang QK, Liu M.
    Am J Med Genet A; 2006 Sep 01; 140A(17):1846-53. PubMed ID: 16892395
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  • 4. Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
    Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z.
    Clin Chim Acta; 2014 Feb 15; 429():129-33. PubMed ID: 24326127
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  • 6. Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
    Yuan ZZ, Yu F, Jin JY, Jiao ZJ, Tang JY, Xiang R.
    Biosci Rep; 2020 Jun 26; 40(6):. PubMed ID: 32478388
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  • 7. 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 26; 82(6):514-20. PubMed ID: 22288654
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  • 9. Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
    Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B.
    Hum Mutat; 2002 Mar 26; 19(3):308. PubMed ID: 11857750
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  • 12. Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family.
    Leonidou A, Irving M, Holden S, Katchburian M.
    World J Orthop; 2016 Dec 18; 7(12):839-842. PubMed ID: 28032038
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  • 13. Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions.
    Xiong J, Tu W, Yan Y, Xiao K, Yao Y, Li S, Yang L, Zhou M, Liu Y, Hu J, Zhu F.
    Front Genet; 2019 Dec 18; 10():353. PubMed ID: 31105738
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  • 14. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
    Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM.
    Am J Hum Genet; 2002 Sep 18; 71(3):618-24. PubMed ID: 12089654
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  • 15. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
    Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML.
    Nat Genet; 1999 Mar 18; 21(3):302-4. PubMed ID: 10080184
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  • 18. Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
    Ganaha A, Kaname T, Akazawa Y, Higa T, Shinjou A, Naritomi K, Suzuki M.
    J Hum Genet; 2015 Jan 18; 60(1):27-34. PubMed ID: 25391606
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  • 20. Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
    Polymeropoulos MH, Poush J, Rubenstein JR, Francomano CA.
    Genomics; 1995 May 20; 27(2):225-9. PubMed ID: 7557985
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