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Journal Abstract Search

195 related items for PubMed ID: 18262308

  • 1. DNA-based prenatal exclusion of harlequin ichthyosis.
    Yanagi T, Akiyama M, Sakai K, Nagasaki A, Ozawa N, Kosaki R, Sago H, Shimizu H.
    J Am Acad Dermatol; 2008 Apr; 58(4):653-6. PubMed ID: 18262308
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  • 2. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
    Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H.
    J Invest Dermatol; 2007 Mar; 127(3):568-73. PubMed ID: 17082782
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  • 4. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
    Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O.
    Gene; 2013 Dec 01; 531(2):510-3. PubMed ID: 24055722
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  • 7. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
    Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H.
    J Clin Invest; 2005 Jul 01; 115(7):1777-84. PubMed ID: 16007253
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  • 10. Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.
    Xie H, Xie Y, Peng R, Li L, Zhu Y, Guo J.
    Clin Exp Dermatol; 2016 Aug 01; 41(6):636-9. PubMed ID: 27381714
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  • 11. Harlequin ichthyosis in two siblings.
    Habib A, Pasha W, Raza N, Hameed A.
    J Coll Physicians Surg Pak; 2011 Aug 01; 21(8):503-5. PubMed ID: 21798141
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  • 13. Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.
    Jian W, Du QT, Lai ZF, Li YF, Li SQ, Xiong ZT, Chen DJ, Chen M, Chen JS.
    Taiwan J Obstet Gynecol; 2018 Jun 01; 57(3):452-455. PubMed ID: 29880184
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  • 17. Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.
    Washio K, Sumi M, Nakata K, Fukunaga A, Yamana K, Koda T, Morioka I, Nishigori C, Yamanishi K.
    J Dermatol; 2017 Aug 01; 44(8):950-953. PubMed ID: 28295493
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