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Journal Abstract Search

138 related items for PubMed ID: 34430442

  • 1. Progressive pseudorheumatoid dysplasia: a case series report.
    Liu Z, Chen X.
    Transl Pediatr; 2021 Jul; 10(7):1932-1939. PubMed ID: 34430442
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  • 2. 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
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  • 6. Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.
    Wang W, Xiao G, Han Q, Ding J, Xie R, Jia J, Leng N, Zheng Z.
    Medicine (Baltimore); 2023 Jul 07; 102(27):e34099. PubMed ID: 37417608
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  • 7. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
    Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):217-29. PubMed ID: 22791401
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  • 9. 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 15; 12(1):419-25. PubMed ID: 25738435
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  • 11. 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
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  • 15. Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant.
    Nilay M, Rawool A, Mandal K.
    J Pediatr Genet; 2024 Mar 15; 13(1):62-68. PubMed ID: 38567170
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  • 17. 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
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  • 18. 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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  • 20. 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
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