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Previous Next 		Contents: Volume 16, Number 23, 1 December 2007   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

Adam J. de Smith, Anya Tsalenko, Nick Sampas, Alicia Scheffer, N. Alice Yamada, Peter Tsang, Amir Ben-Dor, Zohar Yakhini, Richard J. Ellis, Laurakay Bruhn, Stephen Laderman, Philippe Froguel, and Alexandra I.F. Blakemore
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases
Human Molecular Genetics Advance Access published on July 31, 2007
Hum. Mol. Genet. 2007 16: 2783-2794; doi:10.1093/hmg/ddm208 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Chris Ottolenghi, Emanuele Pelosi, Joseph Tran, Maria Colombino, Eric Douglass, Timur Nedorezov, Antonio Cao, Antonino Forabosco, and David Schlessinger
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2795-2804; doi:10.1093/hmg/ddm235 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Hélène Sebban-Benin, Alessandra Pescatore, Francesca Fusco, Valérie Pascuale, Jérémie Gautheron, Shoji Yamaoka, Anne Moncla, Matilde Valeria Ursini, and Gilles Courtois
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2805-2815; doi:10.1093/hmg/ddm237 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth, John D. Davies, Christina Wasner, Anja Feuer, Cassandra D. Ragnauth, Qijian Yi, Jason A. Mellad, Derek T. Warren, Matthew A. Wheeler, Juliet A. Ellis, Jeremy N. Skepper, Matthias Vorgerd, Beate Schlotter-Weigel, Peter L. Weissberg, Roland G. Roberts, Manfred Wehnert, and Catherine M. Shanahan
Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2816-2833; doi:10.1093/hmg/ddm238 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Shin-ichiro Hino, Shinichi Kondo, Hiroshi Sekiya, Atsushi Saito, Soshi Kanemoto, Tomohiko Murakami, Kazuyasu Chihara, Yuri Aoki, Masayuki Nakamori, Masanori P. Takahashi, and Kazunori Imaizumi
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2834-2843; doi:10.1093/hmg/ddm239 [Abstract] [Full Text] [PDF] [Request Permissions]  

Bao-Zhu Yang, Henry R. Kranzler, Hongyu Zhao, Jeffrey R. Gruen, Xingguang Luo, and Joel Gelernter
Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case–control and family samples
Human Molecular Genetics Advance Access published on August 30, 2007
Hum. Mol. Genet. 2007 16: 2844-2853; doi:10.1093/hmg/ddm240 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Akinori Miyashita, Hiroyuki Arai, Takashi Asada, Masaki Imagawa, Etsuro Matsubara, Mikio Shoji, Susumu Higuchi, Katsuya Urakami, Akiyoshi Kakita, Hitoshi Takahashi, Shinichi Toyabe, Kohei Akazawa, Ichiro Kanazawa, Yasuo Ihara, Ryozo Kuwano, and The Japanese Genetic Study Consortium for Alzeheimer's Disease
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females
Human Molecular Genetics Advance Access published on August 30, 2007
Hum. Mol. Genet. 2007 16: 2854-2869; doi:10.1093/hmg/ddm244 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kyle A. Ferguson, Edgar Chan Wong, Victor Chow, Mark Nigro, and Sai Ma
Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2870-2879; doi:10.1093/hmg/ddm246 [Abstract] [Full Text] [PDF] [Request Permissions]  

Akitoyo Hishimoto, Qing-Rong Liu, Tomas Drgon, Olga Pletnikova, Donna Walther, Xu-Guang Zhu, Juan C. Troncoso, and George R. Uhl
Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms
Human Molecular Genetics Advance Access published on September 4, 2007
Hum. Mol. Genet. 2007 16: 2880-2891; doi:10.1093/hmg/ddm247 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Melinda S. Martin, Bin Tang, Ligia A. Papale, Frank H. Yu, William A. Catterall, and Andrew Escayg
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 2892-2899; doi:10.1093/hmg/ddm248 [Abstract] [Full Text] [PDF] [Request Permissions]  

Wonsuk Yang, Linan Chen, Yunmin Ding, Xiaoxi Zhuang, and Un Jung Kang
Paraquat induces dopaminergic dysfunction and proteasome impairment in DJ-1-deficient mice
Human Molecular Genetics Advance Access published on September 6, 2007
Hum. Mol. Genet. 2007 16: 2900-2910; doi:10.1093/hmg/ddm249 [Abstract] [Full Text] [PDF] [Request Permissions]  

Han-Xiang Deng, Hong Zhai, Ronggen Fu, Yong Shi, George H. Gorrie, Yi Yang, Erdong Liu, Mauro C. Dal Canto, Enrico Mugnaini, and Teepu Siddique
Distal axonopathy in an alsin-deficient mouse model
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 2911-2920; doi:10.1093/hmg/ddm251 [Abstract] [Full Text] [PDF] [Request Permissions]  

Shiny V. Mathew, Amanda J. Law, Barbara K. Lipska, Martha I. Dávila-García, Eduardo D. Zamora, Shruti N. Mitkus, Radhakrishna Vakkalanka, Richard E. Straub, Daniel R. Weinberger, Joel E. Kleinman, and Thomas M. Hyde
{alpha}7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1
Human Molecular Genetics Advance Access published on September 20, 2007
Hum. Mol. Genet. 2007 16: 2921-2932; doi:10.1093/hmg/ddm253 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Michael J. Allikian, Gira Bhabha, Patrick Dospoy, Ahlke Heydemann, Pearl Ryder, Judy U. Earley, Matthew J. Wolf, Howard A. Rockman, and Elizabeth M. McNally
Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 2933-2943; doi:10.1093/hmg/ddm254 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sebastian Kandert, Yvonne Lüke, Tobias Kleinhenz, Sascha Neumann, Wenshu Lu, Verena M. Jaeger, Martina Munck, Manfred Wehnert, Clemens R. Müller, Zhongjun Zhou, Angelika A. Noegel, Marie-Christine Dabauvalle, and Iakowos Karakesisoglou
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 2944-2959; doi:10.1093/hmg/ddm255 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yiqing Song, Nai-chieh You, Yi-Hsiang Hsu, James Sul, Lin Wang, Lesley Tinker, Charles B. Eaton, and Simin Liu
Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 2960-2971; doi:10.1093/hmg/ddm256 [Abstract] [Full Text] [PDF] [Request Permissions]  

Pedro Antonio Pérez-Mancera, Camino Bermejo-Rodríguez, Inés González-Herrero, Michel Herranz, Teresa Flores, Rafael Jiménez, and Isidro Sánchez-García
Adipose tissue mass is modulated by SLUG (SNAI2)
Human Molecular Genetics Advance Access published on September 28, 2007
Hum. Mol. Genet. 2007 16: 2972-2986; doi:10.1093/hmg/ddm278 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

René Thierbach, Tim J. Schulz, Frank Isken, Anja Voigt, Brun Mietzner, Gunnar Drewes, Jürgen-Christoph von Kleist-Retzow, Rudolf J. Wiesner, Mark A. Magnuson, Hélène Puccio, Andreas F.H. Pfeiffer, Pablo Steinberg, and Michael Ristow
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice
Human Molecular Genetics Advance Access published on October 4, 2007
Hum. Mol. Genet. 2007 16: 2987; doi:10.1093/hmg/ddm267 [Extract] [Full Text] [PDF] [Request Permissions]  

Kimberley A. Beaumont, Sri N. Shekar, Richard A. Newton, Michael R. James, Jennifer L. Stow, David L. Duffy, and Richard A. Sturm
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
Human Molecular Genetics Advance Access published on October 3, 2007
Hum. Mol. Genet. 2007 16: 2988; doi:10.1093/hmg/ddm268 [Extract] [Full Text] [PDF] [Request Permissions]  

Rolf Schröder, Bertrand Goudeau, Monique Casteras Simon, Dirk Fischer, Thomas Eggermann, Christoph S. Clemen, Zhenlin Li, Jens Reimann, Zhigang Xue, Sabine Rudnik-Schöneborn, Klaus Zerres, Peter F. M. van der Ven, Dieter O. Fürst, Wolfram S. Kunz, and Patrick Vicart
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
Human Molecular Genetics Advance Access published on October 3, 2007
Hum. Mol. Genet. 2007 16: 2989-2990; doi:10.1093/hmg/ddm269 [Extract] [Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.