These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

396 related items for PubMed ID: 26183434

  • 1. 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; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

  • 2. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
    Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB.
    Am J Med Genet A; 2020 Nov; 182(11):2715-2721. PubMed ID: 32856782
    [Abstract] [Full Text] [Related]

  • 3. 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; 39(3):441-452. PubMed ID: 30327864
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
    Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G.
    Am J Med Genet A; 2016 Jan 03; 170A(1):266-9. PubMed ID: 26420734
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
    Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL.
    Biochem Biophys Res Commun; 2011 Oct 07; 413(4):504-8. PubMed ID: 21924244
    [Abstract] [Full Text] [Related]

  • 10. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
    Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S.
    Genet Test Mol Biomarkers; 2019 May 07; 23(5):310-315. PubMed ID: 30932712
    [Abstract] [Full Text] [Related]

  • 11. Progressive pseudorheumatoid dysplasia: report of a family and review.
    el-Shanti HE, Omari HZ, Qubain HI.
    J Med Genet; 1997 Jul 07; 34(7):559-63. PubMed ID: 9222963
    [Abstract] [Full Text] [Related]

  • 12. Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.
    Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.
    Am J Med Genet A; 2003 Aug 01; 120A(4):498-502. PubMed ID: 12884428
    [Abstract] [Full Text] [Related]

  • 13. A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.
    Riaz M, Khoso Z, Rai VR, Hanif MI, Ibrahim MN, Raza SJ.
    J Ayub Med Coll Abbottabad; 2022 Aug 01; 34(Suppl 1)(4):S1050-S1052. PubMed ID: 36550675
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 15; 170(6):1595-9. PubMed ID: 26991965
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
    Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P.
    Am J Med Genet; 1990 Oct 13; 37(2):272-6. PubMed ID: 1978986
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
    Mughal TA, Asim M, Gillani SHUH, Chughtai NO, Batool SA, Hussain A, Shujaat K, Gilani SZT.
    Mol Syndromol; 2024 Oct 13; 15(5):355-361. PubMed ID: 39359945
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 20.