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Journal Abstract Search

153 related items for PubMed ID: 11562478

  • 1. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.
    Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML.
    Proc Natl Acad Sci U S A; 2001 Sep 25; 98(20):11353-8. PubMed ID: 11562478
    [Abstract] [Full Text] [Related]

  • 2. 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 25; 21(3):302-4. PubMed ID: 10080184
    [Abstract] [Full Text] [Related]

  • 3. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
    Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.
    Clin Genet; 2001 Dec 25; 60(6):447-51. PubMed ID: 11846737
    [Abstract] [Full Text] [Related]

  • 4. A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.
    Masuda S, Namba K, Mutai H, Usui S, Miyanaga Y, Kaneko H, Matsunaga T.
    Biochem Biophys Res Commun; 2014 May 09; 447(3):496-502. PubMed ID: 24735539
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 71(3):618-24. PubMed ID: 12089654
    [Abstract] [Full Text] [Related]

  • 6. 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 Sep 09; 51(4):351-7. PubMed ID: 18440889
    [Abstract] [Full Text] [Related]

  • 7. Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.
    Hwang CH, Wu DK.
    Hum Mol Genet; 2008 Mar 15; 17(6):844-53. PubMed ID: 18096605
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 19(3):308. PubMed ID: 11857750
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 82(6):514-20. PubMed ID: 22288654
    [Abstract] [Full Text] [Related]

  • 10. A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.
    Pang X, Wang Z, Chai Y, Chen H, Li L, Sun L, Jia H, Wu H, Yang T.
    Ann Otol Rhinol Laryngol; 2015 Sep 15; 124(9):745-51. PubMed ID: 25888563
    [Abstract] [Full Text] [Related]

  • 11. Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.
    Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F.
    Mol Syndromol; 2012 Jun 15; 3(1):21-24. PubMed ID: 22855651
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 32(8):877-86. PubMed ID: 21538686
    [Abstract] [Full Text] [Related]

  • 13. GDF5 is a second locus for multiple-synostosis syndrome.
    Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J, Mundlos S, Krakow D.
    Am J Hum Genet; 2006 Apr 15; 78(4):708-12. PubMed ID: 16532400
    [Abstract] [Full Text] [Related]

  • 14. Characterization of the functionally related sites in the neural inducing gene noggin.
    Liu W, Ren C, Shi J, Feng X, He Z, Xu L, Lan K, Xie L, Peng Y, Fan J, Kung Hf, Yao KT, Xu RH.
    Biochem Biophys Res Commun; 2000 Apr 02; 270(1):293-7. PubMed ID: 10733942
    [Abstract] [Full Text] [Related]

  • 15. Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
    Bayat A, Fijalkowski I, Andersen T, Abdulmunem SA, van den Ende J, Van Hul W.
    Am J Med Genet A; 2016 Jun 02; 170(6):1479-84. PubMed ID: 26994744
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  • 19. New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
    Schwaerzer GK, Hiepen C, Schrewe H, Nickel J, Ploeger F, Sebald W, Mueller T, Knaus P.
    J Bone Miner Res; 2012 Feb 02; 27(2):429-42. PubMed ID: 21976273
    [Abstract] [Full Text] [Related]

  • 20. A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
    Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y.
    J Bone Miner Res; 2016 Apr 02; 31(4):882-9. PubMed ID: 26643732
    [Abstract] [Full Text] [Related]

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