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Journal Abstract Search

172 related items for PubMed ID: 19438932

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  • 2. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
    Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP.
    J Bone Miner Res; 2007 Feb; 22(2):243-50. PubMed ID: 17087626
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  • 3. A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
    Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y.
    Calcif Tissue Int; 2007 Aug; 81(2):81-4. PubMed ID: 17622481
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  • 5. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
    Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR.
    Nat Genet; 2004 Nov; 36(11):1213-8. PubMed ID: 15489854
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  • 9. Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
    Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P, Sprecher E, Itin PH.
    Eur J Dermatol; 2010 Nov; 20(6):693-7. PubMed ID: 20732851
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  • 11. Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
    Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG, Cohen SR.
    Arch Dermatol; 2010 Jan; 146(1):63-8. PubMed ID: 20083694
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  • 16. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
    Wordsworth P, Chan M.
    Calcif Tissue Int; 2019 May; 104(5):530-543. PubMed ID: 30989250
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  • 18. Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.
    Xu Z, Yang C, Xue R.
    J Cutan Pathol; 2021 Jan; 48(1):77-80. PubMed ID: 32519343
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  • 19. Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
    Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P.
    J Endocrinol Invest; 2016 Jun; 39(6):679-85. PubMed ID: 26694706
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