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Journal Abstract Search

169 related items for PubMed ID: 8256816

  • 21. Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
    Rodgers KD, Sasaki T, Aszodi A, Jacenko O.
    Hum Mol Genet; 2007 Mar 01; 16(5):515-28. PubMed ID: 17213231
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  • 25. Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.
    Echaniz-Laguna A, Rene F, Marcel C, Bangratz M, Fontaine B, Loeffler JP, Nicole S.
    Muscle Nerve; 2009 Jul 01; 40(1):55-61. PubMed ID: 19367640
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  • 27. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
    Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S.
    Hum Mutat; 2006 Nov 01; 27(11):1082-91. PubMed ID: 16927315
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  • 28. The Schwartz-Jampel syndrome: Case report and review of literature.
    Basiri K, Fatehi F, Katirji B.
    Adv Biomed Res; 2015 Nov 01; 4():163. PubMed ID: 26436077
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  • 29. [Schwart-Jampel osteo-chondro-muscular dystrophy. 2 familial cases].
    Greze J, Baldet P, Dumas R, Cadilhac J, Pages A, Jean R.
    Arch Fr Pediatr; 1975 Jan 01; 32(1):59-75. PubMed ID: 1230116
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  • 30. Schwartz-Jampel syndrome: report of one case.
    Yang MT, Yang CC, Chu LW, Lee WT, Young C, Wang PJ.
    Acta Paediatr Taiwan; 2002 Jan 01; 43(4):220-3. PubMed ID: 12238912
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  • 33. Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
    Rajpal MK, Sedki FK, Eid TJ.
    J Pharm Pract; 2024 Oct 01; 37(5):1197-1198. PubMed ID: 37931642
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  • 35. Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome.
    Dave M, Lavanya SR, Khamesra R, Bapat P, Prasath A.
    J Assoc Physicians India; 2020 Aug 01; 68(8):89-90. PubMed ID: 32738848
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  • 37. Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine.
    Squires LA, Prangley J.
    Pediatr Neurol; 1996 Sep 01; 15(2):172-4. PubMed ID: 8888056
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