Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 20

Results: 22

Gonadotropin stimulation contributes to an increased incidence of epimutations in ICSI-derived mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4460, doi. 10.1093/hmg/dds287

By:

de Waal, Eric;
Yamazaki, Yukiko;
Ingale, Puraskar;
Bartolomei, Marisa S.;
Yanagimachi, Ryuzo;
McCarrey, John R.

Publication type:

Article

The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4367, doi. 10.1093/hmg/dds270

By:

Horakova, Andrea H.;
Moseley, Shawn C.;
McLaughlin, Christine R.;
Tremblay, Deanna C.;
Chadwick, Brian P.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 20, p. NP, doi. 10.1093/hmg/dds410
Publication type:: Article

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4473, doi. 10.1093/hmg/dds289

By:

Ochala, Julien;
Gokhin, David S.;
Pénisson-Besnier, Isabelle;
Quijano-Roy, Susana;
Monnier, Nicole;
Lunardi, Joël;
Romero, Norma B.;
Fowler, Velia M.

Publication type:

Article

Analysis of ASB10 variants in open angle glaucoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4543, doi. 10.1093/hmg/dds288

By:

Fingert, John H.;
Roos, Ben R.;
Solivan-Timpe, Frances;
Miller, Kathy A.;
Oetting, Thomas A.;
Wang, Kai;
Kwon, Young H.;
Scheetz, Todd E.;
Stone, Edwin M.;
Alward, Wallace L.M.

Publication type:

Article

Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4508, doi. 10.1093/hmg/dds293

By:

Miller, Gaynor;
Moore, Chris J.;
Terry, Rebecca;
La Riviere, Tracy;
Mitchell, Andrew;
Piggott, Robert;
Dear, T. Neil;
Wells, Dominic J.;
Winder, Steve J.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 20, p. NP, doi. 10.1093/hmg/dds412
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 20, p. NP, doi. 10.1093/hmg/dds413
Publication type:: Article

Proteomic, genomic and translational approaches identify CRMP1 for a role in schizophrenia and its underlying traits.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4406, doi. 10.1093/hmg/dds273

By:

Bader, Verian;
Tomppo, Liisa;
Trossbach, Svenja V.;
Bradshaw, Nicholas J.;
Prikulis, Ingrid;
Leliveld, S. Rutger;
Lin, Chi-Ying;
Ishizuka, Koko;
Sawa, Akira;
Ramos, Adriana;
Rosa, Isaac;
García, Ángel;
Requena, Jesús R.;
Hipolito, Maria;
Rai, Narayan;
Nwulia, Evaristus;
Henning, Uwe;
Ferrea, Stefano;
Luckhaus, Christian;
Ekelund, Jesper

Publication type:

Article

Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4378, doi. 10.1093/hmg/dds271

By:

Marshall, Jamie L.;
Chou, Eric;
Oh, Jennifer;
Kwok, Allan;
Burkin, Dean J.;
Crosbie-Watson, Rachelle H.

Publication type:

Article

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4448, doi. 10.1093/hmg/dds286

By:

Bricceno, Katherine V.;
Sampognaro, Paul J.;
Van Meerbeke, James P.;
Sumner, Charlotte J.;
Fischbeck, Kenneth H.;
Burnett, Barrington G.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 20, p. NP, doi. 10.1093/hmg/dds411
Publication type:: Article

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4558, doi. 10.1093/hmg/dds296

By:

Cruchaga, Carlos;
Kauwe, John S.K.;
Nowotny, Petra;
Bales, Kelly;
Pickering, Eve H.;
Mayo, Kevin;
Bertelsen, Sarah;
Hinrichs, Anthony;
Fagan, Anne M.;
Holtzman, David M.;
Morris, John C.;
Goate, Alison M.

Publication type:

Article

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4497, doi. 10.1093/hmg/dds292

By:

Takano, Kyoko;
Liu, Dan;
Tarpey, Patrick;
Gallant, Esther;
Lam, Alex;
Witham, Shawn;
Alexov, Emil;
Chaubey, Alka;
Stevenson, Roger E.;
Schwartz, Charles E.;
Board, Philip G.;
Dulhunty, Angela F.

Publication type:

Article

Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4530, doi. 10.1093/hmg/dds282

By:

Chen, Guanjie;
Bentley, Amy;
Adeyemo, Adebowale;
Shriner, Daniel;
Zhou, Jie;
Doumatey, Ayo;
Huang, Hanxia;
Ramos, Edward;
Erdos, Michael;
Gerry, Norman;
Herbert, Alan;
Christman, Michael;
Rotimi, Charles

Publication type:

Article

Risk variants for psoriasis vulgaris in a large case–control collection and association with clinical subphenotypes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4549, doi. 10.1093/hmg/dds295

By:

Julià, Antonio;
Tortosa, Raül;
Hernanz, José Manuel;
Cañete, Juan D.;
Fonseca, Eduardo;
Ferrándiz, Carlos;
Unamuno, Pablo;
Puig, Lluís;
Fernández-Sueiro, José Luís;
Sanmartí, Raimon;
Rodríguez, Jesús;
Gratacós, Jordi;
Dauden, Esteban;
Sánchez-Carazo, José Luís;
López-Estebaranz, José Luís;
Moreno-Ramírez, David;
Queiró, Rubén;
Montilla, Carlos;
Torre-Alonso, Juan Carlos;
Pérez-Venegas, José Javier

Publication type:

Article

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4419, doi. 10.1093/hmg/dds284

By:

Jones, Takako Iida;
Chen, Jennifer C. J.;
Rahimov, Fedik;
Homma, Sachiko;
Arashiro, Patricia;
Beermann, Mary Lou;
King, Oliver D.;
Miller, Jeffrey B.;
Kunkel, Louis M.;
Emerson, Charles P.;
Wagner, Kathryn R.;
Jones, Peter L.

Publication type:

Article

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4431, doi. 10.1093/hmg/dds285

By:

Osborne, Melissa;
Gomez, Daniel;
Feng, Zhihua;
McEwen, Corissa;
Beltran, Jose;
Cirillo, Kim;
El-Khodor, Bassem;
Lin, Ming-Yi;
Li, Yun;
Knowlton, Wendy M.;
McKemy, David D.;
Bogdanik, Laurent;
Butts-Dehm, Katherine;
Martens, Kimberly;
Davis, Crystal;
Doty, Rosalinda;
Wardwell, Keegan;
Ghavami, Afshin;
Kobayashi, Dione;
Ko, Chien-Ping

Publication type:

Article

Gene therapy restores vision and delays degeneration in the CNGB1−/− mouse model of retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4486, doi. 10.1093/hmg/dds290

By:

Koch, Susanne;
Sothilingam, Vithiyanjali;
Garcia Garrido, Marina;
Tanimoto, Naoyuki;
Becirovic, Elvir;
Koch, Fred;
Seide, Christina;
Beck, Susanne C.;
Seeliger, Mathias W.;
Biel, Martin;
Mühlfriedel, Regine;
Michalakis, Stylianos

Publication type:

Article

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4521, doi. 10.1093/hmg/dds294

By:

Elo, Jenni M.;
Yadavalli, Srujana S.;
Euro, Liliya;
Isohanni, Pirjo;
Götz, Alexandra;
Carroll, Christopher J.;
Valanne, Leena;
Alkuraya, Fowzan S.;
Uusimaa, Johanna;
Paetau, Anders;
Caruso, Eric M.;
Pihko, Helena;
Ibba, Michael;
Tyynismaa, Henna;
Suomalainen, Anu

Publication type:

Article

Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4394, doi. 10.1093/hmg/dds272

By:

Tanwar, Pradeep S.;
Kaneko-Tarui, Tomoko;
Zhang, LiHua;
Teixeira, Jose M.

Publication type:

Article

Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4537, doi. 10.1093/hmg/dds283

By:

Vimaleswaran, Karani S.;
Tachmazidou, Ioanna;
Zhao, Jing Hua;
Hirschhorn, Joel N.;
Dudbridge, Frank;
Loos, Ruth J.F.

Publication type:

Article