Works matching IS 17558166 AND DT 2015 AND VI 8 AND IP 1

Results: 80
    1
    2
    3
    4
    5

    Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8
    By:
    • Ehret, Julia K.;
    • Engels, Hartmut;
    • Cremer, Kirsten;
    • Becker, Jessica;
    • Zimmermann, Johannes P.;
    • Wohlleber, Eva;
    • Grasshoff, Ute;
    • Rossier, Eva;
    • Bonin, Michael;
    • Mangold, Elisabeth;
    • Bevot, Andrea;
    • Schön, Stefanie;
    • Heilmann-Heimbach, Stefanie;
    • Dennert, Nicola;
    • Mathieu-Dramard, Michèle;
    • Lacaze, Elodie;
    • Plessis, Ghislaine;
    • de Broca, Alain;
    • Jedraszak, Guillaume;
    • Röthlisberger, Benno
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17

    Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1
    By:
    • Magini, Pamela;
    • Poscente, Monica;
    • Ferrari, Simona;
    • Vargiolu, Manuela;
    • Bacchelli, Elena;
    • Graziano, Claudio;
    • Wischmeijer, Anita;
    • Turchetti, Daniela;
    • Malaspina, Elisabetta;
    • Marchiani, Valentina;
    • Cordelli, Duccio Maria;
    • Franzoni, Emilio;
    • Romeo, Giovanni;
    • Seri, Marco
    Publication type:
    Article
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28

    Complex X chromosome rearrangement associated with multiorgan autoimmunity.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0152-5
    By:
    • Haltrich, Irén;
    • Pikó, Henriett;
    • Pamjav, Horolma;
    • Somogyi, Anikó;
    • Völgyi, Antónia;
    • David, Dezső;
    • Beke, Artúr;
    • Garamvölgyi, Zoltán;
    • Kiss, Eszter;
    • Karcagi, Veronika;
    • Fekete, György
    Publication type:
    Article
    29
    30

    Assessment of copy number variations in the brain genome of schizophrenia patients.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0144-5
    By:
    • Miwako Sakai;
    • Yuichiro Watanabe;
    • Toshiyuki Someya;
    • Kazuaki Araki;
    • Masako Shibuya;
    • Kazuhiro Niizato;
    • Kenichi Oshima;
    • Yasuto Kunii;
    • Hirooki Yabe;
    • Junya Matsumoto;
    • Akira Wada;
    • Mizuki Hino;
    • Takeshi Hashimoto;
    • Akitoyo Hishimoto;
    • Noboru Kitamura;
    • Shuji Iritani;
    • Osamu Shirakawa;
    • Kiyoshi Maeda;
    • Akinori Miyashita;
    • Shin-ichi Niwa
    Publication type:
    Article
    31
    32
    33
    34

    6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0151-6
    By:
    • Desch, Laurent;
    • Marle, Nathalie;
    • Mosca-Boidron, Anne-Laure;
    • Faivre, Laurence;
    • Eliade, Marie;
    • Payet, Muriel;
    • Ragon, Clemence;
    • Thevenon, Julien;
    • Aral, Bernard;
    • Ragot, Sylviane;
    • Ardalan, Azarnouche;
    • Dhouibi, Nabila;
    • Bensignor, Candace;
    • Thauvin-Robinet, Christel;
    • Chehadeh, Salima El;
    • Callier, Patrick
    Publication type:
    Article
    35
    36
    37
    38

    Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0147-2
    By:
    • Fuka, Gerhard;
    • Farias-Vieira, Tállita M.;
    • Hummel, Leticia;
    • Blunck, Caroline B.;
    • Santoro, Júlio C.;
    • Terra-Granado, Eugênia;
    • Barbosa, Thayana Conceição;
    • Emerenciano, Mariana;
    • Pombo-de-Oliveira, Maria S.
    Publication type:
    Article
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48

    Terminal 18q deletions are stabilized by neotelomeres.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0135-6
    By:
    • Guilherme, Roberta Santos;
    • Hermetz, Karen E.;
    • Varela, Patrícia Teixeira;
    • Perez, Ana Beatriz Alvarez;
    • Meloni, Vera Ayres;
    • Rudd, M. Katharine;
    • Kulikowski, Leslie Domenici;
    • Melaragno, Maria Isabel
    Publication type:
    Article
    49
    50