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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

179 related items for PubMed ID: 32264862

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  • 2. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
    Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S.
    Hum Mutat; 2004 Nov; 24(5):439-40. PubMed ID: 15459972
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  • 8. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
    Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O, Cole WG, Briggs MD.
    Hum Mutat; 2005 Dec; 26(6):557-65. PubMed ID: 16287128
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  • 11. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.
    Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S.
    Am J Med Genet A; 2006 Jun 15; 140(12):1280-4. PubMed ID: 16691584
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  • 13. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
    Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD.
    Am J Med Genet A; 2010 Apr 15; 152A(4):863-9. PubMed ID: 20358595
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  • 16. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
    Dasa V, Eastwood JRB, Podgorski M, Park H, Blackstock C, Antoshchenko T, Rogala P, Bieganski T, Jazwinski SM, Czarny-Ratajczak M.
    Am J Med Genet A; 2019 Apr 15; 179(4):534-541. PubMed ID: 30740902
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  • 18. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
    Mortier GR, Chapman K, Leroy JL, Briggs MD.
    Eur J Hum Genet; 2001 Aug 15; 9(8):606-12. PubMed ID: 11528506
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  • 20. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
    Mäkitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG.
    Am J Med Genet A; 2004 Mar 15; 125A(3):278-84. PubMed ID: 14994237
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