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Journal Abstract Search

171 related items for PubMed ID: 33748277

  • 1. A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
    Guo BB, Jin JY, Yuan ZZ, Zeng L, Xiang R.
    Biomed Res Int; 2021; 2021():6678531. PubMed ID: 33748277
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  • 3. Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
    Zhou L, Chen J, Liu Q, Yang S, Xie W, Peng Y.
    Front Endocrinol (Lausanne); 2023; 14():1267946. PubMed ID: 38075060
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  • 4. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
    Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT.
    Am J Med Genet; 1998 Dec 28; 80(5):510-3. PubMed ID: 9880218
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  • 5. Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
    Briggs MD, Brock J, Ramsden SC, Bell PA.
    Eur J Hum Genet; 2014 Nov 28; 22(11):1278-82. PubMed ID: 24595329
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  • 8. Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
    Yu WJ, Zhang Z, He JW, Fu WZ, Wang C, Zhang ZL.
    Mol Med Rep; 2016 Sep 28; 14(3):2180-6. PubMed ID: 27432013
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  • 10. Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis.
    Coustry F, Posey KL, Maerz T, Baker K, Abraham AM, Ambrose CG, Nobakhti S, Shefelbine SJ, Bi X, Newton M, Gawronski K, Remer L, Veerisetty AC, Hossain MG, Chiu F, Hecht JT.
    Matrix Biol; 2018 Apr 28; 67():75-89. PubMed ID: 29309831
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  • 11. Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation.
    Gu C, Yang Z, Tan H, Zhang Y, Lu Y, Ma Y.
    Biomed Res Int; 2017 Apr 28; 2017():5809787. PubMed ID: 29104872
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  • 12. A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
    Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N.
    BMC Med Genet; 2020 May 27; 21(1):115. PubMed ID: 32460719
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  • 14. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
    Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM.
    Am J Med Genet A; 2022 Mar 27; 188(3):751-759. PubMed ID: 34750995
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  • 15. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
    Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S.
    Am J Med Genet; 2001 Nov 22; 104(2):135-9. PubMed ID: 11746044
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  • 16. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
    Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.
    Am J Hum Genet; 1998 Feb 22; 62(2):311-9. PubMed ID: 9463320
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  • 17. [Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
    Lu CT, Guo L, Zahng ZH, Lin WX, Song YZ, Feng L.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov 22; 15(11):937-41. PubMed ID: 24229584
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  • 19. A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
    Chen J, Zhang W, He J, Zhang R, Cao Y, Liu X.
    Genes Dis; 2019 Mar 22; 6(1):47-55. PubMed ID: 30906833
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  • 20. Cartilage oligomeric matrix protein: COMPopathies and beyond.
    Posey KL, Coustry F, Hecht JT.
    Matrix Biol; 2018 Oct 22; 71-72():161-173. PubMed ID: 29530484
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