Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 19

Results: 21

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3769, doi. 10.1093/hmg/ddr293

By:

Luo, Yue;
Hermetz, Karen E.;
Jackson, Jodi M.;
Mulle, Jennifer G.;
Dodd, Anne;
Tsuchiya, Karen D.;
Ballif, Blake C.;
Shaffer, Lisa G.;
Cody, Jannine D.;
Ledbetter, David H.;
Martin, Christa L.;
Rudd, M. Katharine

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 19, p. NP, doi. 10.1093/hmg/ddr406
Publication type:: Article

Genome-wide association study identifies new prostate cancer susceptibility loci.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3867, doi. 10.1093/hmg/ddr295

By:

Schumacher, Fredrick R.;
Berndt, Sonja I.;
Siddiq, Afshan;
Jacobs, Kevin B.;
Wang, Zhaoming;
Lindstrom, Sara;
Stevens, Victoria L.;
Chen, Constance;
Mondul, Alison M.;
Travis, Ruth C.;
Stram, Daniel O.;
Eeles, Rosalind A.;
Easton, Douglas F.;
Giles, Graham;
Hopper, John L.;
Neal, David E.;
Hamdy, Freddie C.;
Donovan, Jenny L.;
Muir, Kenneth;
Al Olama, Ali Amin

Publication type:

Article

Perturbation of U2AF65/NXF1-mediated RNA nuclear export enhances RNA toxicity in polyQ diseases.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3787, doi. 10.1093/hmg/ddr297

By:

Tsoi, Ho;
Lau, Chi Kong;
Lau, Kwok Fai;
Chan, Ho Yin Edwin

Publication type:

Article

A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3884, doi. 10.1093/hmg/ddr301

By:

Mbarek, Hamdi;
Ochi, Hidenori;
Urabe, Yuji;
Kumar, Vinod;
Kubo, Michiaki;
Hosono, Naoya;
Takahashi, Atsushi;
Kamatani, Yoichiro;
Miki, Daiki;
Abe, Hiromi;
Tsunoda, Tatsuhiko;
Kamatani, Naoyuki;
Chayama, Kazuaki;
Nakamura, Yusuke;
Matsuda, Koichi

Publication type:

Article

Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3822, doi. 10.1093/hmg/ddr300

By:

Alcaraz, Wendy A.;
Chen, Edward;
Valdes, Phoebe;
Kim, Eunnie;
Lo, Yuan Hung;
Vo, Jennifer;
Hamilton, Bruce A.

Publication type:

Article

Cellular toxicity of expanded RNA repeats: focus on RNA foci.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3811, doi. 10.1093/hmg/ddr299

By:

Wojciechowska, Marzena;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3831, doi. 10.1093/hmg/ddr304

By:

Yagi, Takuya;
Ito, Daisuke;
Nihei, Yoshihiro;
Ishihara, Tadayuki;
Suzuki, Norihiro

Publication type:

Article

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3725, doi. 10.1093/hmg/ddr241

By:

Friedland-Little, Joshua M.;
Hoffmann, Andrew D.;
Ocbina, Polloneal Jymmiel R.;
Peterson, Mike A.;
Bosman, Joshua D.;
Chen, Yan;
Cheng, Steven Y.;
Anderson, Kathryn V.;
Moskowitz, Ivan P.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 19, p. NP, doi. 10.1093/hmg/ddr409
Publication type:: Article

Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3757, doi. 10.1093/hmg/ddr292

By:

Lawlor, Kynan T.;
O'Keefe, Louise V.;
Samaraweera, Saumya E.;
van Eyk, Clare L.;
McLeod, Catherine J.;
Maloney, Christopher A.;
Dang, Thurston H.Y.;
Suter, Catherine M.;
Richards, Robert I.

Publication type:

Article

A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3893, doi. 10.1093/hmg/ddr302

By:

Png, Eileen;
Thalamuthu, Anbupalam;
Ong, Rick T.H.;
Snippe, Harm;
Boland, Greet J.;
Seielstad, Mark

Publication type:

Article

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3798, doi. 10.1093/hmg/ddr298

By:

Meguro-Horike, Makiko;
Yasui, Dag H.;
Powell, Weston;
Schroeder, Diane I.;
Oshimura, Mitsuo;
LaSalle, Janine M.;
Horike, Shin-ichi

Publication type:

Article

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3852, doi. 10.1093/hmg/ddr306

By:

Palmieri, Michela;
Impey, Soren;
Kang, Hyojin;
di Ronza, Alberto;
Pelz, Carl;
Sardiello, Marco;
Ballabio, Andrea

Publication type:

Article

High prevalence of laminopathies among patients with metabolic syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3779, doi. 10.1093/hmg/ddr294

By:

Dutour, Anne;
Roll, Patrice;
Gaborit, Bénédicte;
Courrier, Sébastien;
Alessi, Marie-Christine;
Tregouet, David-Alexandre;
Angelis, Fabien;
Robaglia-Schlupp, Andrée;
Lesavre, Nathalie;
Cau, Pierre;
Lévy, Nicolas;
Badens, Catherine;
Morange, Pierre-Emmanuel

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 19, p. NP, doi. 10.1093/hmg/ddr407
Publication type:: Article

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305

By:

Mitsuhashi, Satomi;
Hatakeyama, Hideyuki;
Karahashi, Minako;
Koumura, Tomoko;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Noguchi, Satoru;
Sher, Roger B.;
Nakagawa, Yasuhito;
Manfredi, Giovanni;
Goto, Yu-ichi;
Cox, Gregory A.;
Nishino, Ichizo

Publication type:

Article

Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3746, doi. 10.1093/hmg/ddr291

By:

Stine, Zachary E.;
McGaughey, David M.;
Bessling, Seneca L.;
Li, Shengchao;
McCallion, Andrew S.

Publication type:

Article

Genome-wide association study identifies common variants associated with circulating vitamin E levels.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3876, doi. 10.1093/hmg/ddr296

By:

Major, Jacqueline M.;
Yu, Kai;
Wheeler, William;
Zhang, Hong;
Cornelis, Marilyn C.;
Wright, Margaret E.;
Yeager, Meredith;
Snyder, Kirk;
Weinstein, Stephanie J.;
Mondul, Alison;
Eliassen, Heather;
Purdue, Mark;
Hazra, Aditi;
McCarty, Catherine A.;
Hendrickson, Sara;
Virtamo, Jarmo;
Hunter, David;
Chanock, Stephen;
Kraft, Peter;
Albanes, Demetrius

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 19, p. NP, doi. 10.1093/hmg/ddr408
Publication type:: Article

Important neuronal toxicity of microtubule-bound Tau in vivo in Drosophila.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 19, p. 3738, doi. 10.1093/hmg/ddr290

By:

Talmat-Amar, Yasmina;
Arribat, Yoan;
Redt-Clouet, Christelle;
Feuillette, Sébastien;
Bougé, Anne-Laure;
Lecourtois, Magalie;
Parmentier, Marie-Laure

Publication type:

Article