Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 22

Results: 22

Exploring the genomic basis of pharmacoresistance in epilepsy: an integrative analysis of large-scale gene expression profiling studies on brain tissue from epilepsy surgery.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4381, doi. 10.1093/hmg/ddr365

By:

Mirza, Nasir;
Vasieva, Olga;
Marson, Anthony Guy;
Pirmohamed, Munir

Publication type:

Article

15q11.2–13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4311, doi. 10.1093/hmg/ddr357

By:

Yasui, Dag H.;
Scoles, Haley A.;
Horike, Shin-ichi;
Meguro-Horike, Makiko;
Dunaway, Keith W.;
Schroeder, Diane I.;
LaSalle, Janine M.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 22, p. NP, doi. 10.1093/hmg/ddr486
Publication type:: Article

Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4440, doi. 10.1093/hmg/ddr372

By:

Yu, Ting;
Shakkottai, Vikram G.;
Chung, Chan;
Lieberman, Andrew P.

Publication type:

Article

Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4491, doi. 10.1093/hmg/ddr367

By:

Chen, Fang;
Chen, Gary K.;
Millikan, Robert C.;
John, Esther M.;
Ambrosone, Christine B.;
Bernstein, Leslie;
Zheng, Wei;
Hu, Jennifer J.;
Ziegler, Regina G.;
Deming, Sandra L.;
Bandera, Elisa V.;
Nyante, Sarah;
Palmer, Julie R.;
Rebbeck, Timothy R.;
Ingles, Sue A.;
Press, Michael F.;
Rodriguez-Gil, Jorge L.;
Chanock, Stephen J.;
Le Marchand, Loïc;
Kolonel, Laurence N.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 22, p. NP, doi. 10.1093/hmg/ddr485
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 22, p. NP, doi. 10.1093/hmg/ddr483
Publication type:: Article

DNA methylation directly silences genes with non-CpG island promoters and establishes a nucleosome occupied promoter.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4299, doi. 10.1093/hmg/ddr356

By:

Han, Han;
Cortez, Connie C.;
Yang, Xiaojing;
Nichols, Peter W.;
Jones, Peter A.;
Liang, Gangning

Publication type:

Article

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4360, doi. 10.1093/hmg/ddr363

By:

Celestino-Soper, Patricia B.S.;
Shaw, Chad A.;
Sanders, Stephan J.;
Li, Jian;
Murtha, Michael T.;
Ercan-Sencicek, A. Gulhan;
Davis, Lea;
Thomson, Susanne;
Gambin, Tomasz;
Chinault, A. Craig;
Ou, Zhishuo;
German, Jennifer R.;
Milosavljevic, Aleksandar;
Sutcliffe, James S.;
Cook, Edwin H.;
Stankiewicz, Pawel;
State, Matthew W.;
Beaudet, Arthur L.

Publication type:

Article

Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4411, doi. 10.1093/hmg/ddr369

By:

Lu, Chuncheng;
Zhang, Feng;
Yang, Hua;
Xu, Miaofei;
Du, Guizhen;
Wu, Wei;
An, Yu;
Qin, Yufeng;
Ji, Guixiang;
Han, Xiumei;
Gu, Aihua;
Xia, Yankai;
Song, Ling;
Wang, Shoulin;
Jin, Li;
Wang, Xinru

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 22, p. NP, doi. 10.1093/hmg/ddr484
Publication type:: Article

GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4504, doi. 10.1093/hmg/ddr375

By:

Benyamin, Beben;
Middelberg, Rita P.;
Lind, Penelope A.;
Valle, Anne M.;
Gordon, Scott;
Nyholt, Dale R.;
Medland, Sarah E.;
Henders, Anjali K.;
Heath, Andrew C.;
Madden, Pamela A.F.;
Visscher, Peter M.;
O'Connor, Daniel T.;
Montgomery, Grant W.;
Martin, Nicholas G.;
Whitfield, John B.

Publication type:

Article

The selective footprints of viral pressures at the human RIG-I-like receptor family.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4462, doi. 10.1093/hmg/ddr377

By:

Vasseur, Estelle;
Patin, Etienne;
Laval, Guillaume;
Pajon, Sandra;
Fornarino, Simona;
Crouau-Roy, Brigitte;
Quintana-Murci, Lluis

Publication type:

Article

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4430, doi. 10.1093/hmg/ddr371

By:

Akman, H. Orhan;
Sheiko, Tatiana;
Tay, Stacey K.H.;
Finegold, Milton J.;
DiMauro, Salvatore;
Craigen, William J.

Publication type:

Article

Genomic imprinting at a boundary element flanking the SDHD locus.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4452, doi. 10.1093/hmg/ddr376

By:

Baysal, Bora E.;
McKay, Sharen E.;
Kim, Yoon Jung;
Zhang, Zimei;
Alila, Linda;
Willett-Brozick, Joan E.;
Pacak, Karel;
Kim, Tae Hoon;
Shadel, Gerald S.

Publication type:

Article

Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4475, doi. 10.1093/hmg/ddr380

By:

Kemp, Michael Q.;
Poort, Jessica L.;
Baqri, Rehan M.;
Lieberman, Andrew P.;
Breedlove, S. Marc;
Miller, Kyle E.;
Jordan, Cynthia L.

Publication type:

Article

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4324, doi. 10.1093/hmg/ddr359

By:

Seo, Jung Hwa;
Zilber, Yulia;
Babayeva, Sima;
Liu, JiaJia;
Kyriakopoulos, Paulina;
De Marco, Patrizia;
Merello, Elisa;
Capra, Valeria;
Gros, Philippe;
Torban, Elena

Publication type:

Article

Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4371, doi. 10.1093/hmg/ddr364

By:

Sargeant, Timothy J.;
Wang, Susan;
Bradley, Josephine;
Smith, Nicolas J.C.;
Raha, Animesh A.;
McNair, Rosamund;
Ziegler, Robin J.;
Cheng, Seng H.;
Cox, Timothy M.;
Cachón-González, Maria Begoña

Publication type:

Article

Increased levels of noisy splicing in cancers, but not for oncogene-derived transcripts.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4422, doi. 10.1093/hmg/ddr370

By:

Chen, Lu;
Tovar-Corona, Jaime M.;
Urrutia, Araxi O.

Publication type:

Article

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4334, doi. 10.1093/hmg/ddr360

By:

Mutsaers, Chantal A.;
Wishart, Thomas M.;
Lamont, Douglas J.;
Riessland, Markus;
Schreml, Julia;
Comley, Laura H.;
Murray, Lyndsay M.;
Parson, Simon H.;
Lochmüller, Hanns;
Wirth, Brunhilde;
Talbot, Kevin;
Gillingwater, Thomas H.

Publication type:

Article

Elevated levels of active matrix metalloproteinase-9 cause hypertrophy in skeletal muscle of normal and dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4345, doi. 10.1093/hmg/ddr362

By:

Dahiya, Saurabh;
Bhatnagar, Shephali;
Hindi, Sajedah M.;
Jiang, Chunhui;
Paul, Pradyut K.;
Kuang, Shihuan;
Kumar, Ashok

Publication type:

Article

Functional and physical interaction between the mismatch repair and FA-BRCA pathways.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4395, doi. 10.1093/hmg/ddr366

By:

Williams, Stacy A.;
Wilson, James B.;
Clark, Allison P.;
Mitson-Salazar, Alyssa;
Tomashevski, Andrei;
Ananth, Sahana;
Glazer, Peter M.;
Semmes, O. John;
Bale, Allen E.;
Jones, Nigel J.;
Kupfer, Gary M.

Publication type:

Article