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Journal Abstract Search

147 related items for PubMed ID: 17726487

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. 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 Aug 01; 16(5):859-868. PubMed ID: 32071555
    [Abstract] [Full Text] [Related]

  • 24. 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 01; 167A(3):461-75. PubMed ID: 25604898
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  • 27. 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 01; 33(11):786-90. PubMed ID: 12961049
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  • 29. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
    Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, Menkes CJ.
    J Rheumatol; 1995 Feb 01; 22(2):255-61. PubMed ID: 7738948
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  • 31. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.
    Cole WG.
    Clin Orthop Relat Res; 1997 Aug 01; (341):162-9. PubMed ID: 9269170
    [Abstract] [Full Text] [Related]

  • 32. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.
    Am J Med Genet A; 2007 Jan 15; 143A(2):161-7. PubMed ID: 17163530
    [Abstract] [Full Text] [Related]

  • 33. 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
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  • 34. 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 03; 28(3):334-343. PubMed ID: 31958497
    [Abstract] [Full Text] [Related]

  • 35. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
    Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Xing XP, Li M.
    Mol Genet Genomic Med; 2020 Mar 03; 8(3):e1139. PubMed ID: 31972903
    [Abstract] [Full Text] [Related]

  • 36. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
    Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):205-16. PubMed ID: 22791362
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  • 37. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B.
    Pediatr Radiol; 1994 Aug 15; 24(6):431-5. PubMed ID: 7700721
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  • 38. 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 15; 167A(12):3103-7. PubMed ID: 26250472
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  • 39. [Achondrogenesis type II-hypochondrogenesis: radiological features.Case report].
    Delgado Carrasco J, Casanova Morcillo A, Zabalza Alvillos M, Ayala Garcés A.
    An Esp Pediatr; 2001 Dec 15; 55(6):553-7. PubMed ID: 11730591
    [Abstract] [Full Text] [Related]

  • 40. 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 15; 26(1):36-43. PubMed ID: 15895462
    [Abstract] [Full Text] [Related]

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