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Journal Abstract Search

120 related items for PubMed ID: 26420734

  • 1. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
    Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G.
    Am J Med Genet A; 2016 Jan; 170A(1):266-9. PubMed ID: 26420734
    [No Abstract] [Full Text] [Related]

  • 2. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

  • 3. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
    Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB.
    Am J Med Genet A; 2020 Nov; 182(11):2715-2721. PubMed ID: 32856782
    [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; 35(4):e23728. PubMed ID: 33590889
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. [Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita].
    Wang Y, Xiao H, Wang Z, Zhao N, Xue Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):694-696. PubMed ID: 31302913
    [Abstract] [Full Text] [Related]

  • 7. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
    Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G.
    Clin Genet; 2015 May 10; 87(5):496-8. PubMed ID: 25060605
    [No Abstract] [Full Text] [Related]

  • 8. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.
    Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Geneviève D, Touitou I.
    Am J Med Genet A; 2016 Jan 10; 170A(1):263-5. PubMed ID: 26358419
    [No Abstract] [Full Text] [Related]

  • 9. 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 Jan 10; 10(6):e0127529. PubMed ID: 26030151
    [Abstract] [Full Text] [Related]

  • 10. Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
    Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R.
    Osteoarthritis Cartilage; 2020 Mar 10; 28(3):334-343. PubMed ID: 31958497
    [Abstract] [Full Text] [Related]

  • 11. [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 10; 32(2):240-4. PubMed ID: 25863096
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 167A(3):461-75. PubMed ID: 25604898
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 24(8):1813-9. PubMed ID: 25967556
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 18(9):1612-21. PubMed ID: 12968670
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 16(5):859-868. PubMed ID: 32071555
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 25(9):2967-74. PubMed ID: 27059630
    [Abstract] [Full Text] [Related]

  • 17. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
    Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S.
    Genet Test Mol Biomarkers; 2019 May 10; 23(5):310-315. PubMed ID: 30932712
    [Abstract] [Full Text] [Related]

  • 18. Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.
    Agenbag G, Vorster A, Julius S, Ramesar R, Beighton P.
    S Afr Med J; 2020 Dec 14; 111(1):57-60. PubMed ID: 33404007
    [Abstract] [Full Text] [Related]

  • 19. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
    Mark PR, Torres-Martinez W, Lachman RS, Weaver DD.
    Am J Med Genet A; 2011 Jan 14; 155A(1):174-9. PubMed ID: 21204228
    [Abstract] [Full Text] [Related]

  • 20. 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 14; 382(1-2):148-50. PubMed ID: 17509551
    [No Abstract] [Full Text] [Related]

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