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Journal Abstract Search

151 related items for PubMed ID: 15076581

  • 1. Spondyloepiphyseal dysplasia congenita with absent femoral head.
    Jung SC, Mathew S, Li QW, Lee YJ, Lee KS, Song HR.
    J Pediatr Orthop B; 2004 Mar; 13(2):63-9. PubMed ID: 15076581
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
    Li S, Zhou H, Qin H, Guo H, Bai Y.
    Joint Bone Spine; 2014 Jan; 81(1):86-9. PubMed ID: 23932928
    [Abstract] [Full Text] [Related]

  • 3. Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
    Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL.
    Biochem Biophys Res Commun; 2011 Oct 07; 413(4):504-8. PubMed ID: 21924244
    [Abstract] [Full Text] [Related]

  • 4. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
    Zhou T, Yang X, Chen Z, Zhou Y, Cao X, Zhao C, Zhao J.
    J Clin Lab Anal; 2021 Apr 07; 35(4):e23728. PubMed ID: 33590889
    [Abstract] [Full Text] [Related]

  • 5. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
    Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.
    Am J Med Genet A; 2015 Mar 07; 167A(3):461-75. PubMed ID: 25604898
    [Abstract] [Full Text] [Related]

  • 6. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
    Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.
    Am J Med Genet; 2001 Nov 22; 104(2):140-6. PubMed ID: 11746045
    [Abstract] [Full Text] [Related]

  • 7. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
    Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Xing XP, Li M.
    Mol Genet Genomic Med; 2020 Mar 22; 8(3):e1139. PubMed ID: 31972903
    [Abstract] [Full Text] [Related]

  • 8. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
    Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT.
    J Bone Miner Res; 2003 Sep 22; 18(9):1612-21. PubMed ID: 12968670
    [Abstract] [Full Text] [Related]

  • 9. Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
    Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W.
    Eur Spine J; 2016 Sep 22; 25(9):2967-74. PubMed ID: 27059630
    [Abstract] [Full Text] [Related]

  • 10. A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
    Xia X, Cui Y, Huang Y, Pan L, Wu Y, Zhang P, Jin B.
    Clin Chim Acta; 2007 Jul 22; 382(1-2):148-50. PubMed ID: 17509551
    [No Abstract] [Full Text] [Related]

  • 11. Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
    Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T.
    Am J Med Genet A; 2015 Jul 22; 167(7):1578-81. PubMed ID: 25900302
    [Abstract] [Full Text] [Related]

  • 12. Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.
    Wu K, Li Z, Zhu Y, Wang X, Chen G, Hou Z, Zhang Q.
    BMC Med Genomics; 2021 Jun 28; 14(1):170. PubMed ID: 34182999
    [Abstract] [Full Text] [Related]

  • 13. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
    Cao LH, Wang L, Ji CY, Wang LB, Ma HW, Luo Y.
    Genet Mol Res; 2012 Dec 03; 11(4):4130-7. PubMed ID: 23079993
    [Abstract] [Full Text] [Related]

  • 14. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
    Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.
    PLoS One; 2015 Dec 03; 10(6):e0127529. PubMed ID: 26030151
    [Abstract] [Full Text] [Related]

  • 15. The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.
    Al Kaissi A, Ryabykh S, Pavlova OM, Ochirova P, Kenis V, Chehida FB, Ganger R, Grill F, Kircher SG.
    Medicine (Baltimore); 2019 Jan 03; 98(1):e13780. PubMed ID: 30608389
    [Abstract] [Full Text] [Related]

  • 16. Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
    Li H, Ma L, Wang B, Cui Y, Xiao T.
    Eur Spine J; 2015 Aug 03; 24(8):1813-9. PubMed ID: 25967556
    [Abstract] [Full Text] [Related]

  • 17. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
    Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H.
    J Med Genet; 2002 Sep 03; 39(9):661-5. PubMed ID: 12205109
    [Abstract] [Full Text] [Related]

  • 18. Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.
    Sulko J, Czarny-Ratajczak M, Wozniak A, Latos-Bielenska A, Kozlowski K.
    Am J Med Genet A; 2005 Sep 01; 137A(3):292-7. PubMed ID: 16088915
    [Abstract] [Full Text] [Related]

  • 19. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.
    Xu Y, Li L, Wang C, Yue H, Zhang H, Gu J, Hu W, Liu L, Zhang Z.
    Int J Biol Sci; 2020 Sep 01; 16(5):859-868. PubMed ID: 32071555
    [Abstract] [Full Text] [Related]

  • 20. [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
    Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr 01; 32(2):240-4. PubMed ID: 25863096
    [Abstract] [Full Text] [Related]

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