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Journal Abstract Search

133 related items for PubMed ID: 26358419

  • 21. [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; 32(2):240-4. PubMed ID: 25863096
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  • 23. A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
    Esapa CT, Hough TA, Testori S, Head RA, Crane EA, Chan CP, Evans H, Bassett JH, Tylzanowski P, McNally EG, Carr AJ, Boyde A, Howell PG, Clark A, Williams GR, Brown MA, Croucher PI, Nesbit MA, Brown SD, Cox RD, Cheeseman MT, Thakker RV.
    J Bone Miner Res; 2012 Feb; 27(2):413-28. PubMed ID: 22028304
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  • 24. 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; 28(3):334-343. PubMed ID: 31958497
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  • 25. 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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  • 29. 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
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  • 30. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
    Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.
    Genet Test; 2008 Dec 03; 12(4):533-6. PubMed ID: 19072565
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  • 31. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
    Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.
    Am J Med Genet; 2001 Nov 22; 104(2):140-6. PubMed ID: 11746045
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  • 33. Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.
    Lilianty J, Nur Patria Y, Stanley EG, Elefanty AG, Bateman JF, Lamandé SR.
    Stem Cell Res; 2020 May 22; 45():101843. PubMed ID: 32446218
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  • 34. Severe neonatal spondylometaphyseal dysplasia in two siblings.
    Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K.
    Am J Med Genet A; 2009 Oct 22; 149A(10):2166-72. PubMed ID: 19764033
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  • 35. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia.
    James PA, Shaw J, du Sart D, Craig E, Bateman JF, Savarirayan R.
    Prenat Diagn; 2003 Oct 22; 23(10):861-3. PubMed ID: 14558035
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  • 39. A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.
    Chung BH, Luk HM, Lo IF, Lam ST, Li RH.
    Am J Med Genet A; 2013 Apr 22; 161A(4):918-20. PubMed ID: 23495189
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