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Journal Abstract Search

250 related items for PubMed ID: 15164415

  • 1. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
    Steffann J, Raclin V, Smahi A, Woffendin H, Munnich A, Kenwrick SJ, Grebille AG, Benachi A, Dumez Y, Bonnefont JP, Hadj-Rabia S.
    Prenat Diagn; 2004 May; 24(5):384-8. PubMed ID: 15164415
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  • 2. De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.
    Culić V, Gabrić D, Puizina-Ivić N, Rozman K, Peterlin B, Pavelić J.
    Coll Antropol; 2008 Dec; 32(4):1259-62. PubMed ID: 19149237
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  • 5. [Incontinentia pigmenti. Four patients with different clinical manifestations].
    Llano-Rivas I, Soler-Sánchez T, Málaga-Diéguez I, Fernández-Toral J.
    An Pediatr (Barc); 2012 Mar; 76(3):156-60. PubMed ID: 22036144
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  • 7. NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients.
    Okita M, Nakanishi G, Fujimoto N, Shiomi M, Yamada T, Wataya-Kaneda M, Takijiri C, Yokoyama Y, Sunohara A, Tanaka T.
    J Dermatol; 2013 Apr; 40(4):272-6. PubMed ID: 23398170
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  • 9. Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients.
    Zou CC, Zhao ZY.
    Int J Dermatol; 2007 Oct; 46(10):1017-22. PubMed ID: 17910706
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  • 10. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome).
    Shastry BS.
    J Hum Genet; 2000 Oct; 45(6):323-6. PubMed ID: 11185738
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  • 11. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.
    Bardaro T, Falco G, Sparago A, Mercadante V, Gean Molins E, Tarantino E, Ursini MV, D'Urso M.
    Hum Mutat; 2003 Jan; 21(1):8-11. PubMed ID: 12497627
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  • 12. NEMO gene mutations in Chinese patients with incontinentia pigmenti.
    Hsiao PF, Lin SP, Chiang SS, Wu YH, Chen HC, Lin YC.
    J Formos Med Assoc; 2010 Mar; 109(3):192-200. PubMed ID: 20434027
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  • 14. [Incontinentia pigmenti. A rare disease with many symptoms].
    Holmström G, Bergendal B, Hallberg G, Marcus S, Hallén A, Dahl N.
    Lakartidningen; 2002 Mar 21; 99(12):1345-50. PubMed ID: 11998169
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  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 21; 56(3):105-52. PubMed ID: 19728970
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  • 19. [NEMO Delta 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases].
    Li L, Song GW, DU JB, Liu JR, Xu FS, Liu XY, Zhang T.
    Zhonghua Er Ke Za Zhi; 2005 Feb 21; 43(2):89-92. PubMed ID: 15833158
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  • 20. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.
    Nenci A, Huth M, Funteh A, Schmidt-Supprian M, Bloch W, Metzger D, Chambon P, Rajewsky K, Krieg T, Haase I, Pasparakis M.
    Hum Mol Genet; 2006 Feb 15; 15(4):531-42. PubMed ID: 16399796
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