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Journal Abstract Search

195 related items for PubMed ID: 27291587

  • 1. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
    Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, Thangaraj K, Wise CA, Ikegawa S, Pandita KK, Sharma S.
    Sci Rep; 2016 Jun 13; 6():27684. PubMed ID: 27291587
    [Abstract] [Full Text] [Related]

  • 2. Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
    Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y.
    BMC Med Genet; 2019 Mar 29; 20(1):53. PubMed ID: 30922245
    [Abstract] [Full Text] [Related]

  • 3. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.
    Montané LS, Marín OR, Rivera-Pedroza CI, Vallespín E, Del Pozo Á, Heath KE.
    Am J Med Genet A; 2016 Jun 29; 170(6):1595-9. PubMed ID: 26991965
    [Abstract] [Full Text] [Related]

  • 4. WISP3 mutation associated with pseudorheumatoid dysplasia.
    Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, Mazrouei S, Bernstein JA, Aryani O, Snyder MP.
    Cold Spring Harb Mol Case Stud; 2018 Feb 29; 4(1):. PubMed ID: 29092958
    [Abstract] [Full Text] [Related]

  • 5. 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 29; 158A(11):2820-8. PubMed ID: 22987568
    [Abstract] [Full Text] [Related]

  • 6. 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 29; 12(1):419-25. PubMed ID: 25738435
    [Abstract] [Full Text] [Related]

  • 7. Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery.
    Li Y, Zeng Y, Chen Z, Xin H, Li X.
    J Orthop Surg Res; 2019 Jan 11; 14(1):16. PubMed ID: 30635069
    [Abstract] [Full Text] [Related]

  • 8. Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.
    Fathalla BM, Elgabaly EA, Tayoun AA.
    Pediatr Rheumatol Online J; 2020 Sep 07; 18(1):69. PubMed ID: 32894151
    [Abstract] [Full Text] [Related]

  • 9. CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.
    Wang Y, Xiao K, Yang Y, Wu Z, Jin J, Qiu G, Weng X, Zhao X.
    Mol Genet Genomic Med; 2020 Jul 07; 8(7):e1261. PubMed ID: 32351055
    [Abstract] [Full Text] [Related]

  • 10. Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3.
    Chen W, Mo S, Luo G, Wang Y, Deng X, Zhu J, Zhao W.
    Pediatr Rheumatol Online J; 2018 Sep 10; 16(1):55. PubMed ID: 30200995
    [Abstract] [Full Text] [Related]

  • 11. Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
    Alawbathani S, Kawalia A, Karakaya M, Altmüller J, Nürnberg P, Cirak S.
    Cold Spring Harb Mol Case Stud; 2018 Feb 10; 4(1):. PubMed ID: 29258992
    [Abstract] [Full Text] [Related]

  • 12. A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia.
    Luo H, Shi C, Mao C, Jiang C, Bao D, Guo J, Du P, Wang Y, Liu Y, Liu X, Song B, Xu Y.
    Gene; 2015 Jun 10; 564(1):35-8. PubMed ID: 25794430
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.
    Hu Q, Liu J, Wang Y, Wang J, Shi H, Sun Y, Wu X, Yang C, Teng J.
    BMC Med Genet; 2017 Dec 15; 18(1):149. PubMed ID: 29246200
    [Abstract] [Full Text] [Related]

  • 15. [Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].
    Ye J, Zhang HW, Wang T, Cao LF, Qiu WJ, Han LS, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2010 Mar 15; 48(3):194-8. PubMed ID: 20426955
    [Abstract] [Full Text] [Related]

  • 16. Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.
    El Dessouki D, Amr K, Kholoussi N, Rady HM, Temtamy SA, Abdou MMS, Aglan M.
    Am J Med Genet A; 2023 Sep 15; 191(9):2329-2336. PubMed ID: 37377052
    [Abstract] [Full Text] [Related]

  • 17. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 15; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

  • 18. Progressive pseudorheumatoid dysplasia: a rare childhood disease.
    Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, Filocamo G.
    Rheumatol Int; 2019 Mar 15; 39(3):441-452. PubMed ID: 30327864
    [Abstract] [Full Text] [Related]

  • 19. A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.
    Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK.
    J Pediatr Endocrinol Metab; 2011 Mar 15; 24(1-2):105-8. PubMed ID: 21528827
    [Abstract] [Full Text] [Related]

  • 20. Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
    Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG.
    Clin Rheumatol; 2020 Feb 15; 39(2):553-560. PubMed ID: 31628567
    [Abstract] [Full Text] [Related]

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