Works matching IS 10614036 AND DT 2005 AND VI 37


Results: 345
    1

    Mutual inspiration.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1297, doi. 10.1038/ng1205-1297
    Publication type:
    Article
    2

    Power tools for human genetics.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1299, doi. 10.1038/ng1205-1299
    By:
    • Kruglyak, Leonid
    Publication type:
    Article
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    SILencing misbehaving proteins.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1302, doi. 10.1038/ng1205-1302
    By:
    • Zoghbi, Huda Y.
    Publication type:
    Article
    5

    Aging (not so) gracefully.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1303, doi. 10.1038/ng1205-1303
    By:
    • Bickel, Sharon E.
    Publication type:
    Article
    6

    Touching base.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1305, doi. 10.1038/ng1205-1305
    By:
    • M. A.;
    • E. N.;
    • A. P.
    Publication type:
    Article
    7

    Research Highlights.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1307, doi. 10.1038/ng1205-1307
    By:
    • A. P.;
    • O. B.;
    • K. V.;
    • E. N.
    Publication type:
    Article
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    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
    By:
    • Anttonen, Anna-Kaisa;
    • Mahjneh, Ibrahim;
    • Hämäläinen, Riikka H.;
    • Lagier-Tourenne, Clotilde;
    • Kopra, Outi;
    • Waris, Laura;
    • Anttonen, Mikko;
    • Joensuu, Tarja;
    • Kalimo, Hannu;
    • Paetau, Anders;
    • Tranebjaerg, Lisbeth;
    • Chaigne, Denys;
    • Koenig, Michel;
    • Eeg-Olofsson, Orvar;
    • Udd, Bjarne;
    • Somer, Mirja;
    • Somer, Hannu;
    • Lehesjoki, Anna-Elina
    Publication type:
    Article
    19

    Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
    By:
    • Senderek, Jan;
    • Krieger, Michael;
    • Stendel, Claudia;
    • Bergmann, Carsten;
    • Moser, Markus;
    • Breitbach-Faller, Nico;
    • Rudnik-Schöneborn, Sabine;
    • Blaschek, Astrid;
    • Wolf, Nicole I.;
    • Harting, Inga;
    • North, Kathryn;
    • Smith, Janine;
    • Muntoni, Francesco;
    • Brockington, Martin;
    • Quijano-Roy, Susana;
    • Renault, Francis;
    • Herrmann, Ralf;
    • Hendershot, Linda M.;
    • Schröder, J. Michael;
    • Lochmüller, Hanns
    Publication type:
    Article
    20

    Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1341, doi. 10.1038/ng1680
    By:
    • Monsuur, Alienke J.;
    • de Bakker, Paul I. W.;
    • Alizadeh, Behrooz Z.;
    • Zhernakova, Alexandra;
    • Bevova, Marianna R.;
    • Strengman, Eric;
    • Franke, Lude;
    • van't Slot, Ruben;
    • van Belzen, Martine J.;
    • Lavrijsen, Ineke C. M.;
    • Diosdado, Begoña;
    • Daly, Mark J.;
    • Mulder, Chris J. J.;
    • Mearin, M. Luisa;
    • Meijer, Jos W. R.;
    • Meijer, Gerrit A.;
    • van Oort, Erica;
    • Wapenaar, Martin C.;
    • Koeleman, Bobby P. C.;
    • Wijmenga, Cisca
    Publication type:
    Article
    21

    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
    By:
    • Zenker, Martin;
    • Mayerle, Julia;
    • Lerch, Markus M.;
    • Tagariello, Andreas;
    • Zerres, Klaus;
    • Durie, Peter R.;
    • Beier, Matthias;
    • Hülskamp, Georg;
    • Guzman, Celina;
    • Rehder, Helga;
    • Beemer, Frits A.;
    • Hamel, Ben;
    • Vanlieferinghen, Philippe;
    • Gershoni-Baruch, Ruth;
    • Vieira, Marta W.;
    • Dumic, Miroslav;
    • Auslender, Ron;
    • Gil-da-Silva-Lopes, Vera L.;
    • Steinlicht, Simone;
    • Rauh, Manfred
    Publication type:
    Article
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    RNAi the natural way.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1163, doi. 10.1038/ng1105-1163
    By:
    • Cullen, Bryan R
    Publication type:
    Article
    32

    Touching base.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1167, doi. 10.1038/ng1105-1167
    Publication type:
    Article
    33

    Research Highlights.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1169, doi. 10.1038/ng1105-1169
    Publication type:
    Article
    34

    Donning our fancy coats.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1173, doi. 10.1038/ng1105-1173
    Publication type:
    Article
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    Second-generation shRNA libraries covering the mouse and human genomes.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1281, doi. 10.1038/ng1650
    By:
    • Silva, Jose M.;
    • Li, Mamie Z.;
    • Chang, Ken;
    • Wei Ge;
    • Golding, Michael C.;
    • Rickles, Richard J.;
    • Siolas, Despina;
    • Hu, Guang;
    • Paddison, Patrick J;
    • Schlabach, Michael R;
    • Sheth, Nihar;
    • Bradshaw, Jeff;
    • Burchard, Julia;
    • Kulkarni, Amit;
    • Cavet, Guy;
    • Sachidanandam, Ravi;
    • McCombie, W. Richard;
    • Cleary, Michele A.;
    • Elledge, Stephen J.;
    • Hannon, Gregory J.
    Publication type:
    Article
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    Population structure, differential bias and genomic control in a large-scale, case-control association study.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1243, doi. 10.1038/ng1653
    By:
    • Clayton, David G.;
    • Walker, Neil M.;
    • Smyth, Deborah J.;
    • Pask, Rebecca;
    • Cooper, Jason D.;
    • Maier, Lisa M.;
    • Smink, Luc J.;
    • Lam, Alex C.;
    • Ovington, Nigel R.;
    • Stevens, Helen E.;
    • Nutland, Sarah;
    • Howson, Joanna M. M.;
    • Faham, Malek;
    • Moorhead, Martin;
    • Jones, Hywel B.;
    • Falkowski, Matthew;
    • Hardenbol, Paul;
    • Willis, Thomas D.;
    • Todd, John A.
    Publication type:
    Article
    41

    Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1247, doi. 10.1038/ng1654
    By:
    • Dumitrescu, Alexandra M;
    • Liao, Xiao-Hui;
    • Abdullah, Mohamed S Y;
    • Lado-Abeal, Joaquin;
    • Majed, Fathia Abdul;
    • Moeller, Lars C;
    • Boran, Gerard;
    • Schomburg, Lutz;
    • Weiss, Roy E;
    • Refetoff, Samuel
    Publication type:
    Article
    42

    Genetic variation in selenoprotein S influences inflammatory response.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1234, doi. 10.1038/ng1655
    By:
    • Curran, Joanne E.;
    • Jowett, Jeremy B. M.;
    • Elliott, Kate S.;
    • Gao, Yuan;
    • Gluschenko, Kristi;
    • Wang, Jianmin;
    • Azim, Dalia M. Abel;
    • Cai, Guowen;
    • Mahaney, Michael C.;
    • Comuzzie, Anthony G.;
    • Dyer, Thomas D.;
    • Walder, Ken R.;
    • Zimmet, Paul;
    • MacCluer, Jean W.;
    • Collier, Greg R.;
    • Kissebah, Ahmed H.;
    • Blangero, John
    Publication type:
    Article
    43

    Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1258, doi. 10.1038/ng1656
    By:
    • Bruce, Lesley J.;
    • C. Robinson, Hannah;
    • Guizouarn, Hélène;
    • Borgese, Franck;
    • Harrison, Penny;
    • King, May-Jean;
    • Goede, Jeroen S.;
    • Coles, Suzanne E.;
    • Gore, Daniel M.;
    • Lutz, Hans U.;
    • Ficarella, Romina;
    • Layton, D. Mark;
    • Iolascon, Achille;
    • Ellory, J. Clive;
    • Stewart, Gordon W.
    Publication type:
    Article
    44

    Mutations in dynamin 2 cause dominant centronuclear myopathy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
    By:
    • Bitoun, Marc;
    • Maugenre, Svetlana;
    • Jeannet, Pierre-Yves;
    • Lacène, Emmanuelle;
    • Ferrer, Xavier;
    • Laforêt, Pascal;
    • Martin, Jean-Jacques;
    • Laporte, Jocelyn;
    • Lochmüller, Hanns;
    • Beggs, Alan H.;
    • Fardeau, Michel;
    • Eymard, Bruno;
    • Romero, Norma B.;
    • Guicheney, Pascale
    Publication type:
    Article
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