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Journal Abstract Search

396 related items for PubMed ID: 26183434

  • 21. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
    Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V.
    BMC Med Genet; 2016 Dec 12; 17(1):96. PubMed ID: 27955642
    [Abstract] [Full Text] [Related]

  • 22. 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 Dec 12; 24(6):431-5. PubMed ID: 7700721
    [Abstract] [Full Text] [Related]

  • 23. 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 12; 167A(3):461-75. PubMed ID: 25604898
    [Abstract] [Full Text] [Related]

  • 24. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
    Li S, Zhou H, Qin H, Guo H, Bai Y.
    Joint Bone Spine; 2014 Jan 12; 81(1):86-9. PubMed ID: 23932928
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  • 28. 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 12; 8(3):e1139. PubMed ID: 31972903
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  • 30. Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).
    Ramesar R, Beighton P.
    Am J Med Genet; 1992 Jul 15; 43(5):833-8. PubMed ID: 1353665
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  • 31. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
    Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.
    QJM; 2003 Sep 15; 96(9):663-71. PubMed ID: 12925722
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  • 32. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
    Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM.
    Am J Med Genet A; 2012 Nov 15; 158A(11):2820-8. PubMed ID: 22987568
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  • 33. Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
    Uludağ Alkaya D, Kasapçopur Ö, Bursalı A, Adrovic A, Demir B, Aykut A, Tüysüz B.
    Rheumatology (Oxford); 2022 Aug 30; 61(9):3693-3703. PubMed ID: 34919662
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  • 34. Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.
    Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V.
    Genet Mol Res; 2016 Mar 11; 15(1):15017624. PubMed ID: 26985960
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  • 35. Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
    Sher C, Ramesar R, Martell R, Learmonth I, Tsipouras P, Beighton P.
    Am J Hum Genet; 1991 Mar 11; 48(3):518-24. PubMed ID: 1671807
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  • 36. [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
    Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr 11; 32(2):240-4. PubMed ID: 25863096
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  • 37. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
    Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE.
    Spine (Phila Pa 1976); 2003 Nov 15; 28(22):E478-82. PubMed ID: 14624098
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  • 38. Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.
    Wu K, Li Z, Zhu Y, Wang X, Chen G, Hou Z, Zhang Q.
    BMC Med Genomics; 2021 Jun 28; 14(1):170. PubMed ID: 34182999
    [Abstract] [Full Text] [Related]

  • 39. 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 28; 15(12):1269-75. PubMed ID: 17726487
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  • 40. Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.
    Yu Y, Hu M, Xing X, Li F, Song Y, Luo Y, Ma H.
    Mol Med Rep; 2015 Jul 28; 12(1):419-25. PubMed ID: 25738435
    [Abstract] [Full Text] [Related]

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