Works about GENE dosage

Results: 82
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    A CNV MAP OF THE TUNISIAN POPULATION.

    Published in:
    Archives de l'Institut Pasteur de Tunis, 2020, v. 97, n. 1-4, p. 35
    By:
    • ROMDHANE, L.;
    • LAHBIB, S.;
    • DALLALI, H.;
    • KEFI, R.;
    • ROMDHANE, S.;
    • CHOUCHANE, L.;
    • ABDELHAK, S.
    Publication type:
    Article
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    PLP1 gene analysis in 88 patients with leukodystrophy.

    Published in:
    Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103
    By:
    • Martínez-Montero, P;
    • Muñoz-Calero, M;
    • Vallespín, E;
    • Campistol, J;
    • Martorell, L;
    • Ruiz-Falcó, MJ;
    • Santana, A;
    • Pons, R;
    • Dinopoulos, A;
    • Sierra, C;
    • Nevado, J;
    • Molano, J
    Publication type:
    Article
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    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
    By:
    • Mullegama, Sureni V;
    • Rosenfeld, Jill A;
    • Orellana, Carmen;
    • van Bon, Bregje W M;
    • Halbach, Sara;
    • Repnikova, Elena A;
    • Brick, Lauren;
    • Li, Chumei;
    • Dupuis, Lucie;
    • Rosello, Monica;
    • Aradhya, Swaroop;
    • Stavropoulos, D James;
    • Manickam, Kandamurugu;
    • Mitchell, Elyse;
    • Hodge, Jennelle C;
    • Talkowski, Michael E;
    • Gusella, James F;
    • Keller, Kory;
    • Zonana, Jonathan;
    • Schwartz, Stuart
    Publication type:
    Article
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    Genomics and drug profiling of fatal TCF3-HLF−positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

    Published in:
    Nature Genetics, 2015, v. 47, n. 9, p. 1020, doi. 10.1038/ng.3362
    By:
    • Schäfer, Daniel;
    • Moorman, Anthony V;
    • Eugster, Sabrina;
    • Warnatz, Hans-Jörg;
    • Raeder, Benjamin;
    • Gombert, Michael;
    • Thiele, Ralf;
    • Hemmrich-Stanisak, Georg;
    • Schreiber, Stefan;
    • Worth, Catherine L;
    • Cario, Gunnar;
    • Höll, Jessica I;
    • Dobay, Maria Pamela;
    • Heidenreich, Olaf;
    • Hornhardt, Sabine;
    • Badarinarayan, Nandini;
    • Stade, Björn;
    • Vora, Ajay;
    • Bornhauser, Beat;
    • Stütz, Adrian M
    Publication type:
    Article
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    Gene expression analysis identifies global gene dosage sensitivity in cancer.

    Published in:
    Nature Genetics, 2015, v. 47, n. 2, p. 115, doi. 10.1038/ng.3173
    By:
    • Fehrmann, Rudolf S N;
    • Simeonov, Anton;
    • Wijmenga, Cisca;
    • Franke, Lude;
    • Krajewska, Małgorzata;
    • Hirschhorn, Joel N;
    • Schultes, Erik A;
    • van Haagen, Herman H H B M;
    • Westra, Harm-Jan;
    • te Meerman, Gerard J;
    • Maloney, David;
    • Jansen, Ritsert C;
    • Karjalainen, Juha M;
    • de Vries, Elisabeth G E;
    • van Vugt, Marcel A T M;
    • Pers, Tune H
    Publication type:
    Article
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    Low copy number of the salivary amylase gene predisposes to obesity.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 492, doi. 10.1038/ng.2939
    By:
    • Falchi, Mario;
    • El-Sayed Moustafa, Julia Sarah;
    • Takousis, Petros;
    • Pesce, Francesco;
    • Bonnefond, Amélie;
    • Andersson-Assarsson, Johanna C;
    • Sudmant, Peter H;
    • Dorajoo, Rajkumar;
    • Al-Shafai, Mashael Nedham;
    • Bottolo, Leonardo;
    • Ozdemir, Erdal;
    • So, Hon-Cheong;
    • Davies, Robert W;
    • Patrice, Alexandre;
    • Dent, Robert;
    • Mangino, Massimo;
    • Hysi, Pirro G;
    • Dechaume, Aurélie;
    • Huyvaert, Marlène;
    • Skinner, Jane
    Publication type:
    Article
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    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
    By:
    • Carvalho, Claudia M. B.;
    • Coban-Akdemir, Zeynep;
    • Hijazi, Hadia;
    • Yuan, Bo;
    • Pendleton, Matthew;
    • Harrington, Eoghan;
    • Beaulaurier, John;
    • Juul, Sissel;
    • Turner, Daniel J.;
    • Kanchi, Rupa S.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Stankiewicz, Pawel;
    • Belmont, John W.;
    • Shaw, Chad A.;
    • Cheung, Sau Wai;
    • Hanchard, Neil A.;
    • Sutton, V. Reid;
    • Bader, Patricia I.
    Publication type:
    Article
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    Opposite effects on facial morphology due to gene dosage sensitivity.

    Published in:
    Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
    By:
    • Hammond, Peter;
    • McKee, Shane;
    • Suttie, Michael;
    • Allanson, Judith;
    • Cobben, Jan-Maarten;
    • Maas, Saskia;
    • Quarrell, Oliver;
    • Smith, Ann;
    • Lewis, Suzanne;
    • Tassabehji, May;
    • Sisodiya, Sanjay;
    • Mattina, Teresa;
    • Hennekam, Raoul
    Publication type:
    Article
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