Works matching IS 17558166 AND DT 2014 AND VI 7 AND IP 1

Results: 76
    1

    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0097-0
    By:
    • Kashevarova, Anna A.;
    • Nazarenko, Lyudmila P.;
    • Schultz-Pedersen, Soren;
    • Skryabin, Nikolay A.;
    • Salyukova, Olga A.;
    • Chechetkina, Nataliya N.;
    • Tolmacheva, Ekaterina N.;
    • Rudko, Aleksey A.;
    • Magini, Pamela;
    • Graziano, Claudio;
    • Romeo, Giovanni;
    • Joss, Shelagh;
    • Tümer, Zeynep;
    • Lebedev, Igor N.
    Publication type:
    Article
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    Genes on B chromosomes of vertebrates.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 164, doi. 10.1186/s13039-014-0099-y
    By:
    • Makunin, Alexey I.;
    • Dementyeva, Polina V.;
    • Graphodatsky, Alexander S.;
    • Volobouev, Vitaly T.;
    • Kukekova, Anna V.;
    • Trifonov, Vladimir A.
    Publication type:
    Article
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    Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0074-7
    By:
    • Schwaibold, Eva Maria Christina;
    • Smogavec, Mateja;
    • Hobbiebrunken, Elke;
    • Winter, Lorenz;
    • Zoll, Barbara;
    • Burfeind, Peter;
    • Brockmann, Knut;
    • Pauli, Silke
    Publication type:
    Article
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    5'RUNX1-3'USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0066-7
    By:
    • Zagaria, Antonella;
    • Anelli, Luisa;
    • Coccaro, Nicoletta;
    • Tota, Giuseppina;
    • Casieri, Paola;
    • Cellamare, Angelo;
    • Minervini, Angela;
    • Minervini, Crescenzio Francesco;
    • Brunetti, Claudia;
    • Cumbo, Cosimo;
    • Specchia, Giorgina;
    • Albano, Francesco
    Publication type:
    Article
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    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
    By:
    • Dupont, Celine;
    • Bucourt, Martine;
    • Guimiot, Fabien;
    • Kraoua, Lilia;
    • Smiljkovski, Daniel;
    • Le Tessier, Dominique;
    • Lebugle, Camille;
    • Gerard, Benedicte;
    • Spaggiari, Emmanuel;
    • Bourdoncle, Pierre;
    • Tabet, Anne-Claude;
    • Benzacken, Brigitte;
    • Dupont, Jean-Michel
    Publication type:
    Article
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    A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 3, doi. 10.1186/1755-8166-7-44
    By:
    • Pinto, Irene Plaza;
    • Minasi, Lysa Bernardes;
    • da Cruz, Alex Silva;
    • de Melo, Aldaires Vieira;
    • Cruz e Cunha, Damiana Míriam da;
    • Roncato, Rodrigo;
    • Ribeiro, Cristiano Luiz;
    • da Silva, Claudio Carlos;
    • e Silva, Daniela de Melo;
    • da Cruz, Aparecido Divino
    Publication type:
    Article
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