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Journal Abstract Search

163 related items for PubMed ID: 12884428

  • 1. Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.
    Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.
    Am J Med Genet A; 2003 Aug 01; 120A(4):498-502. PubMed ID: 12884428
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  • 5. 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 01; 182(11):2715-2721. PubMed ID: 32856782
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  • 7. 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
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  • 8. 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 07; 28(3):334-343. PubMed ID: 31958497
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  • 9. Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.
    Zhang Z, Zhao SC, He JW, Fu WZ, Zhang CQ, Zhang ZL.
    Gene; 2013 Jun 10; 522(1):107-10. PubMed ID: 23545312
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  • 13. Czech dysplasia metatarsal type: another type II collagen disorder.
    Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR.
    Eur J Hum Genet; 2007 Dec 10; 15(12):1269-75. PubMed ID: 17726487
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  • 15. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
    Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A.
    Am J Med Genet; 1996 May 03; 63(1):123-8. PubMed ID: 8723097
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  • 18. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.
    Sybert VP, Byers PH, Hall JG.
    Clin Genet; 1979 Feb 03; 15(2):160-6. PubMed ID: 104811
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  • 20. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
    Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.
    Am J Med Genet A; 2010 Jun 03; 152A(6):1443-9. PubMed ID: 20503319
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