Works in Human Molecular Genetics, 2011, Vol 20, Issue 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
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
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
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
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
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
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
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
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 19, p. NP, doi. 10.1093/hmg/ddr407
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
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
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
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