Works matching Chromosome mutation

Results: 3435
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    Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1150, doi. 10.1007/s10875-013-9927-9
    By:
    • Boonyawat, Boonchai;
    • Dhanraj, Santhosh;
    • Abbas, Fahad;
    • Zlateska, Bozana;
    • Grunenbaum, Eyal;
    • Roifman, Chaim;
    • Steele, Leslie;
    • Meyn, Stephen;
    • Blanchette, Victor;
    • Scherer, Stephen;
    • Swierczek, Sabina;
    • Prchal, Josef;
    • Zhu, Qili;
    • Torgerson, Troy;
    • Ochs, Hans;
    • Dror, Yigal
    Publication type:
    Article
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    Rapid gynogenetic mapping of Xenopus tropicalis mutations to chromosomes.

    Published in:
    Developmental Dynamics, 2009, v. 238, n. 6, p. 1398, doi. 10.1002/dvdy.21965
    By:
    • Khokha, Mustafa K.;
    • Krylov, Vladimir;
    • Reilly, Michael J.;
    • Gall, Joseph G.;
    • Bhattacharya, Dipankan;
    • Cheung, Chung Yan J.;
    • Kaufman, Sarah;
    • Lam, Dang Khoa;
    • Macha, Jaroslav;
    • Ngo, Catherine;
    • Prakash, Neha;
    • Schmidt, Philip;
    • Tlapakova, Tereza;
    • Trivedi, Toral;
    • Tumova, Lucie;
    • Abu-Daya, Anita;
    • Geach, Timothy;
    • Vendrell, Elisenda;
    • Ironfield, Holly;
    • Sinzelle, Ludivine
    Publication type:
    Article
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    Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases.

    Published in:
    Virchows Archiv: European Journal of Pathology, 2022, v. 480, n. 2, p. 281, doi. 10.1007/s00428-021-03217-z
    By:
    • Dundr, Pavel;
    • Gregová, Mária;
    • Hojný, Jan;
    • Krkavcová, Eva;
    • Michálková, Romana;
    • Němejcová, Kristýna;
    • Bártů, Michaela;
    • Hájková, Nikola;
    • Laco, Jan;
    • Mára, Michal;
    • Richtárová, Adéla;
    • Zima, Tomáš;
    • Stružinská, Ivana
    Publication type:
    Article
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    TERT promoter mutations and chromosome 8p loss are characteristic of nonalcoholic fatty liver disease-related hepatocellular carcinoma.

    Published in:
    International Journal of Cancer, 2016, v. 139, n. 11, p. 2512, doi. 10.1002/ijc.30379
    By:
    • Ki Kim, Soo;
    • Ueda, Yoshihide;
    • Hatano, Etsuro;
    • Kakiuchi, Nobuyuki;
    • Takeda, Haruhiko;
    • Goto, Tomoyuki;
    • Shimizu, Takahiro;
    • Yoshida, Kenichi;
    • Ikura, Yoshihiro;
    • Shiraishi, Yuichi;
    • Chiba, Kenichi;
    • Tanaka, Hiroko;
    • Miyano, Satoru;
    • Uemoto, Shinji;
    • Chiba, Tsutomu;
    • Ogawa, Seishi;
    • Marusawa, Hiroyuki
    Publication type:
    Article
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    Allelic Loss on Chromosome 8p in BRCA-1 Mutation Positive Breast/Ovarian Cancers.

    Published in:
    Breast Journal, 1998, v. 4, n. 1, p. 9, doi. 10.1046/j.1524-4741.1998.410009.x
    By:
    • Masood, Shahla;
    • Emmert-Buck, Michael R.;
    • Weiss, Rhonda A.;
    • DiFranco, Estela M.;
    • Aznavoorian, Sadie;
    • Linehan, W. Marston;
    • Vocke, Cathy D.;
    • Chuaqui, Rodrigo F.;
    • Merino, Maria J.;
    • Liotta, Lance A.;
    • Zhuang, Zhengping;
    • Struewing, Jeffery P.
    Publication type:
    Article
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