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228 related items for PubMed ID: 15643621

  • 1. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
    Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2005 Feb 15; 133A(1):61-7. PubMed ID: 15643621
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  • 2. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
    Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.
    Mamm Genome; 2011 Jun 15; 22(5-6):318-28. PubMed ID: 21538020
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  • 3. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
    Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G.
    Am J Med Genet A; 2012 Aug 15; 158A(8):1948-52. PubMed ID: 22495950
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  • 8. 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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  • 9. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
    Chen J, Ma X, Zhou Y, Li G, Guo Q.
    BMC Pediatr; 2017 Jul 24; 17(1):175. PubMed ID: 28738883
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  • 11. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
    Merrick B, Calder A, Wakeling E.
    Am J Med Genet A; 2015 Dec 24; 167A(12):3103-7. PubMed ID: 26250472
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  • 12. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
    Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
    J Med Genet; 2004 Jan 24; 41(1):75-9. PubMed ID: 14729840
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  • 13. 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 24; 39(9):661-5. PubMed ID: 12205109
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  • 14. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
    Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J.
    Pediatr Radiol; 2003 Nov 24; 33(11):786-90. PubMed ID: 12961049
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  • 15. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
    Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.
    Hum Mutat; 2016 Jan 24; 37(1):7-15. PubMed ID: 26443184
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  • 16. 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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  • 17. The phenotypic spectrum of COL2A1 mutations.
    Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S.
    Hum Mutat; 2005 Jul 10; 26(1):36-43. PubMed ID: 15895462
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  • 18. Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
    Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F.
    Orphanet J Rare Dis; 2011 Feb 28; 6():7. PubMed ID: 21356074
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  • 19. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
    Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR.
    Pediatr Radiol; 1998 Oct 28; 28(10):759-63. PubMed ID: 9799297
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  • 20. 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 28; 167(7):1578-81. PubMed ID: 25900302
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