Works in Molecular Genetics & Genomic Medicine, 2020, Vol 8, Issue 1

Results: 43
    1

    ALU transposition induces familial hypertrophic cardiomyopathy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.951
    By:
    • Nfonsam, Landry;
    • Huang, Lijia;
    • Carson, Nancy;
    • McGowan‐Jordan, Jean;
    • Beaulieu Bergeron, Melanie;
    • Goobie, Sharan;
    • Conacher, Susan;
    • McCarty, David;
    • Benson, Lee;
    • Hewson, Stacy;
    • Zahavich, Laura;
    • Sinclair‐Bourque, Elizabeth;
    • Smith, Amanda;
    • Potter, Ryan;
    • Ghani, Mahdi;
    • Bronicki, Lucas;
    • Jarinova, Olga
    Publication type:
    Article
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    Unexpected phenotype in a frameshift mutation of PTCH1.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.987
    By:
    • Beltrami, Benedetta;
    • Prada, Elisabetta;
    • Tolva, Gianluca;
    • Scuvera, Giulietta;
    • Silipigni, Rosamaria;
    • Graziani, Daniela;
    • Bulfamante, Gaetano;
    • Gervasini, Cristina;
    • Marchisio, Paola;
    • Milani, Donatella
    Publication type:
    Article
    5

    Cover.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1158
    By:
    • Lin, Mao;
    • Liu, Zhenlei;
    • Liu, Gang;
    • Zhao, Sen;
    • Li, Chao;
    • Chen, Weisheng;
    • Coban Akdemir, Zeynep;
    • Lin, Jiachen;
    • Song, Xiaofei;
    • Wang, Shengru;
    • Xu, Qiming;
    • Zhao, Yanxue;
    • Wang, Lianlei;
    • Zhang, Yuanqiang;
    • Yan, Zihui;
    • Liu, Sen;
    • Liu, Jiaqi;
    • Chen, Yixin;
    • Zuo, Yuzhi;
    • Yang, Xu
    Publication type:
    Article
    6

    Social and medical need for whole genome high resolution NIPT.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
    By:
    • Srebniak, Malgorzata I.;
    • Knapen, Maarten F. C. M.;
    • Govaerts, Lutgarde C. P.;
    • Polak, Marike;
    • Joosten, Marieke;
    • Diderich, Karin E. M.;
    • van Zutven, Laura J. C. M.;
    • Prinsen, Krista A. K. E.;
    • Riedijk, Sam;
    • Go, Attie T. J. I.;
    • Galjaard, Robert‐Jan H.;
    • Hoefsloot, Lies H.;
    • Van Opstal, Diane
    Publication type:
    Article
    7

    Issue Information.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.758
    Publication type:
    Article
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    Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1054
    By:
    • Traversa, Alice;
    • Bernardo, Silvia;
    • Paiardini, Alessandro;
    • Giovannetti, Agnese;
    • Marchionni, Enrica;
    • Genovesi, Maria Luce;
    • Guadagnolo, Daniele;
    • Torres, Barbara;
    • Paolacci, Stefano;
    • Bernardini, Laura;
    • Mazza, Tommaso;
    • Carella, Massimo;
    • Caputo, Viviana;
    • Pizzuti, Antonio
    Publication type:
    Article
    17

    Macrophage migration inhibitory factor promoter polymorphisms are associated with disease activity in rheumatoid arthritis patients from Southern Mexico.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1037
    By:
    • Santoscoy‐Ascencio, Guillermo;
    • Baños‐Hernández, Christian Johana;
    • Navarro‐Zarza, José Eduardo;
    • Hernández‐Bello, Jorge;
    • Bucala, Richard;
    • López‐Quintero, Andres;
    • Valdés‐Alvarado, Emmanuel;
    • Parra‐Rojas, Isela;
    • Illades‐Aguiar, Berenice;
    • Muñoz‐Valle, José Francisco
    Publication type:
    Article
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    Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056
    By:
    • Catusi, Ilaria;
    • Recalcati, Maria Paola;
    • Bestetti, Ilaria;
    • Garzo, Maria;
    • Valtorta, Chiara;
    • Alfonsi, Melissa;
    • Alghisi, Alberta;
    • Cappellani, Stefania;
    • Casalone, Rosario;
    • Caselli, Rossella;
    • Ceccarini, Caterina;
    • Ceglia, Carlo;
    • Ciaschini, Anna Maria;
    • Coviello, Domenico;
    • Crosti, Francesca;
    • D'Aprile, Annamaria;
    • Fabretto, Antonella;
    • Genesio, Rita;
    • Giagnacovo, Marzia;
    • Granata, Paola
    Publication type:
    Article
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    Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1044
    By:
    • Zenteno, Juan C.;
    • García‐Montaño, Leopoldo A.;
    • Cruz‐Aguilar, Marisa;
    • Ronquillo, Josué;
    • Rodas‐Serrano, Agustín;
    • Aguilar‐Castul, Luis;
    • Matsui, Rodrigo;
    • Vencedor‐Meraz, Carlos I.;
    • Arce‐González, Rocío;
    • Graue‐Wiechers, Federico;
    • Gutiérrez‐Paz, Mario;
    • Urrea‐Victoria, Tatiana;
    • Dios Cuadras, Ulises;
    • Chacón‐Camacho, Oscar F.
    Publication type:
    Article
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