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Journal Abstract Search

206 related items for PubMed ID: 22791401

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 4. 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
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  • 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
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  • 6. Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.
    Ye J, Zhang HW, Qiu WJ, Han LS, Zhang YF, Gong ZW, Gu XF.
    Mol Med Rep; 2012 Jan 29; 5(1):190-5. PubMed ID: 21993478
    [Abstract] [Full Text] [Related]

  • 7. Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
    Sun J, Xia W, He S, Zhao Z, Nie M, Li M, Jiang Y, Xing X, Wang O, Meng X, Zhou X.
    PLoS One; 2012 Jan 29; 7(6):e38643. PubMed ID: 22685593
    [Abstract] [Full Text] [Related]

  • 8. A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
    Ekbote AV, Danda D, Kumar S, Danda S, Madhuri V, Gibikote S.
    Semin Arthritis Rheum; 2013 Jun 29; 42(6):582-9. PubMed ID: 23270760
    [Abstract] [Full Text] [Related]

  • 9. Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.
    Liu L, Li N, Zhao Z, Li W, Xia W.
    Joint Bone Spine; 2015 Mar 29; 82(2):125-8. PubMed ID: 25553839
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

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  • 13. 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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  • 17. 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 30; 12(1):419-25. PubMed ID: 25738435
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  • 18. 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 30; 191(9):2329-2336. PubMed ID: 37377052
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  • 19. 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 30; 4(1):. PubMed ID: 29092958
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  • 20.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM.
    ; 1993 Feb 30. PubMed ID: 26610319
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