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Journal Abstract Search

166 related items for PubMed ID: 14729840

  • 1. 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; 41(1):75-9. PubMed ID: 14729840
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 33(11):786-90. PubMed ID: 12961049
    [Abstract] [Full Text] [Related]

  • 4. [Fatal nanism: 3 different entities].
    Escrivá Tomás P, Clemente Yago F, López Peña LF, Cidras Pidre M, Orts Serrano F, Serrano Martínez JL, Jiménez Cobo B.
    An Esp Pediatr; 1991 Apr 15; 34(4):305-9. PubMed ID: 2069281
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 28(10):759-63. PubMed ID: 9799297
    [Abstract] [Full Text] [Related]

  • 6. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
    Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.
    Biochem Biophys Res Commun; 1998 Oct 15; 468(1-2):86-91. PubMed ID: 26545783
    [Abstract] [Full Text] [Related]

  • 7. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
    Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
    Am J Med Genet; 1999 Jun 11; 84(5):476-80. PubMed ID: 10360402
    [Abstract] [Full Text] [Related]

  • 8. 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 11; 158A(8):1948-52. PubMed ID: 22495950
    [Abstract] [Full Text] [Related]

  • 9. Prevalence of lethal osteochondrodysplasias in Denmark.
    Andersen PE.
    Am J Med Genet; 1989 Apr 11; 32(4):484-9. PubMed ID: 2789000
    [Abstract] [Full Text] [Related]

  • 10. 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 11; 22(5-6):318-28. PubMed ID: 21538020
    [Abstract] [Full Text] [Related]

  • 11. Thanatophoric dysplasia in identical twins.
    Young ID, Patel I, Lamont AC.
    J Med Genet; 1989 Apr 11; 26(4):276-9. PubMed ID: 2716037
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Thanatophoric dysplasia caused by double missense FGFR3 mutations.
    Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L.
    Am J Med Genet A; 2009 Jun 07; 149A(6):1296-301. PubMed ID: 19449430
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 15(12):1269-75. PubMed ID: 17726487
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 03; 167A(12):3103-7. PubMed ID: 26250472
    [Abstract] [Full Text] [Related]

  • 17. A new neonatal short limbed dwarfism.
    McAlister WH, Crane JP, Bucy RP, Craig RB.
    Skeletal Radiol; 1985 Dec 03; 13(4):271-5. PubMed ID: 4001969
    [Abstract] [Full Text] [Related]

  • 18. [Value of postmortem roentgen diagnosis exemplified by early fatal skeletal dysplasias].
    Rupprecht E.
    Kinderarztl Prax; 1985 Mar 03; 53(3):133-40. PubMed ID: 3999549
    [No Abstract] [Full Text] [Related]

  • 19. 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 03; 167A(3):461-75. PubMed ID: 25604898
    [Abstract] [Full Text] [Related]

  • 20. [Thanatophoric dwarfism].
    Frahm R.
    Radiologe; 1986 Dec 03; 26(12):598-601. PubMed ID: 3823421
    [Abstract] [Full Text] [Related]

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