Works matching IS 13899600 AND DT 2022 AND VI 21 AND IP 4


Results: 12
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    Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.

    Published in:
    Familial Cancer, 2022, v. 21, n. 4, p. 441, doi. 10.1007/s10689-022-00289-x
    By:
    • Mafficini, Andrea;
    • Brosens, Lodewijk A. A.;
    • Piredda, Maria L.;
    • Conti, Cristian;
    • Mattiolo, Paola;
    • Turri, Giulia;
    • Mastrosimini, Maria G.;
    • Cingarlini, Sara;
    • Crinò, Stefano F.;
    • Fassan, Matteo;
    • Piccoli, Paola;
    • Simbolo, Michele;
    • Nottegar, Alessia;
    • Lawlor, Rita T.;
    • Guglielmi, Alfredo;
    • Scarpa, Aldo;
    • Pedrazzani, Corrado;
    • Luchini, Claudio
    Publication type:
    Article
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    Detecting inversions in routine molecular diagnosis in MMR genes.

    Published in:
    Familial Cancer, 2022, v. 21, n. 4, p. 423, doi. 10.1007/s10689-021-00287-5
    By:
    • Kasper, Edwige;
    • Coutant, Sophie;
    • Manase, Sandrine;
    • Vasseur, Stéphanie;
    • Macquère, Pierre;
    • Bougeard, Gaëlle;
    • Faivre, Laurence;
    • Ingster, Olivier;
    • Baert-Desurmont, Stéphanie;
    • Houdayer, Claude
    Publication type:
    Article
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    BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

    Published in:
    Familial Cancer, 2022, v. 21, n. 4, p. 389, doi. 10.1007/s10689-021-00286-6
    By:
    • Hovland, Henrikke N.;
    • Al-Adhami, Rafal;
    • Ariansen, Sarah Louise;
    • Van Ghelue, Marijke;
    • Sjursen, Wenche;
    • Lima, Sigrid;
    • Bolstad, Marte;
    • Berger, Amund H.;
    • Høberg-Vetti, Hildegunn;
    • Knappskog, Per;
    • Haukanes, Bjørn Ivar;
    • Aukrust, Ingvild;
    • Ognedal, Elisabet
    Publication type:
    Article
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    Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

    Published in:
    Familial Cancer, 2022, v. 21, n. 4, p. 399, doi. 10.1007/s10689-021-00283-9
    By:
    • Chan, James M.;
    • Clendenning, Mark;
    • Joseland, Sharelle;
    • Georgeson, Peter;
    • Mahmood, Khalid;
    • Walker, Romy;
    • Como, Julia;
    • Joo, Jihoon E.;
    • Preston, Susan;
    • Hutchinson, Ryan A.;
    • Pope, Bernard J.;
    • Metz, Andrew;
    • Beard, Catherine;
    • Purvis, Rebecca;
    • Arnold, Julie;
    • Vijay, Varnika;
    • Konycheva, Galina;
    • Atkinson, Nathan;
    • Parry, Susan;
    • Jenkins, Mark A.
    Publication type:
    Article
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