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Previous Next 		Contents: Volume 18, Number 6, 15 March 2009   [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

Ferrill F. Rose, Jr, Virginia B. Mattis, Hansjörg Rindt, and Christian L. Lorson
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
Human Molecular Genetics Advance Access published on December 12, 2008
Hum. Mol. Genet. 2009 18: 997-1005; doi:10.1093/hmg/ddn426 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jack Phan, Miriam A. Hickey, Peixiang Zhang, Marie-Francoise Chesselet, and Karen Reue
Adipose tissue dysfunction tracks disease progression in two Huntington's disease mouse models
Human Molecular Genetics Advance Access published on January 5, 2009
Hum. Mol. Genet. 2009 18: 1006-1016; doi:10.1093/hmg/ddn428 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Alessandra Muntoni, Axel A. Neumann, Mark Hills, and Roger R. Reddel
Telomere elongation involves intra-molecular DNA replication in cells utilizing alternative lengthening of telomeres
Human Molecular Genetics Advance Access published on December 18, 2008
Hum. Mol. Genet. 2009 18: 1017-1027; doi:10.1093/hmg/ddn436 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Hirokazu Fukui and Carlos T. Moraes
Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons
Human Molecular Genetics Advance Access published on December 18, 2008
Hum. Mol. Genet. 2009 18: 1028-1036; doi:10.1093/hmg/ddn437 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Svetlana A. Shabalina, Dmitri V. Zaykin, Pavel Gris, Aleksey Y. Ogurtsov, Josee Gauthier, Kyoko Shibata, Inna E. Tchivileva, Inna Belfer, Bikashkumar Mishra, Carly Kiselycznyk, Margaret R. Wallace, Roland Staud, Nikolay A. Spiridonov, Mitchell B. Max, David Goldman, Roger B. Fillingim, William Maixner, and Luda Diatchenko
Expansion of the human µ-opioid receptor gene architecture: novel functional variants
Human Molecular Genetics Advance Access published on December 22, 2008
Hum. Mol. Genet. 2009 18: 1037-1051; doi:10.1093/hmg/ddn439 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Martin Müller, Shomi S. Bhattacharya, Tony Moore, Quincy Prescott, Tatjana Wedig, Harald Herrmann, and Thomas M. Magin
Dominant cataract formation in association with a vimentin assembly disrupting mutation
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1052-1057; doi:10.1093/hmg/ddn440 [Abstract] [Full Text] [PDF] [Request Permissions]  

Daniele Ghezzi, Carlo Viscomi, Alessandra Ferlini, Francesca Gualandi, Paolo Mereghetti, Domenico DeGrandis, and Massimo Zeviani
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
Human Molecular Genetics Advance Access published on January 5, 2009
Hum. Mol. Genet. 2009 18: 1058-1064; doi:10.1093/hmg/ddn441 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lan Xiong, Hélène Catoire, Patrick Dion, Claudia Gaspar, Ronald G. Lafrenière, Simon L. Girard, Anastasia Levchenko, Jean-Baptiste Rivière, Laura Fiori, Judith St-Onge, Isabelle Bachand, Pascale Thibodeau, Richard Allen, Christopher Earley, Gustavo Turecki, Jacques Montplaisir, and Guy A. Rouleau
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1065-1074; doi:10.1093/hmg/ddn443 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Irene Manfredi, Alessia D. Zani, Luca Rampoldi, Simona Pegorini, Ilenia Bernascone, Milena Moretti, Cecilia Gotti, Laura Croci, G. Giacomo Consalez, Luigi Ferini-Strambi, Mariaelvina Sala, Linda Pattini, and Giorgio Casari
Expression of mutant β2 nicotinic receptors during development is crucial for epileptogenesis
Human Molecular Genetics Advance Access published on January 18, 2009
Hum. Mol. Genet. 2009 18: 1075-1088; doi:10.1093/hmg/ddp004 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yoichi Kakuta, Nobuo Ueki, Yoshitaka Kinouchi, Kenichi Negoro, Katsuya Endo, Eiki Nomura, Sho Takagi, Seiichi Takahashi, and Tooru Shimosegawa
TNFSF15 transcripts from risk haplotype for Crohn's disease are overexpressed in stimulated T cells
Human Molecular Genetics Advance Access published on January 5, 2009
Hum. Mol. Genet. 2009 18: 1089-1098; doi:10.1093/hmg/ddp005 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Toshimitsu Suzuki, Hiroyuki Miyamoto, Takashi Nakahari, Ikuyo Inoue, Takahiro Suemoto, Bin Jiang, Yuki Hirota, Shigeyoshi Itohara, Takaomi C. Saido, Tadaharu Tsumoto, Kazunobu Sawamoto, Takao K. Hensch, Antonio V. Delgado-Escueta, and Kazuhiro Yamakawa
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1099-1109; doi:10.1093/hmg/ddp006 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Mika Asai-Coakwell, Curtis R. French, Ming Ye, Kamal Garcha, Karin Bigot, Anoja G. Perera, Karen Staehling-Hampton, Silvina C. Mema, Bhaskar Chanda, Arcady Mushegian, Steven Bamforth, Michael R. Doschak, Guang Li, Matthew B. Dobbs, Philip F. Giampietro, Brian P. Brooks, Perumalsamy Vijayalakshmi, Yves Sauvé, Marc Abitbol, Periasamy Sundaresan, Veronica van Heyningen, Olivier Pourquié, T. Michael Underhill, Andrew J. Waskiewicz, and Ordan J. Lehmann
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1110-1121; doi:10.1093/hmg/ddp008 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLE Back

Chuncheng Lu, Jie Zhang, Yingchun Li, Yankai Xia, Feng Zhang, Bin Wu, Wei Wu, Guixiang Ji, Aihua Gu, Shoulin Wang, Li Jin, and Xinru Wang
The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population
Human Molecular Genetics Advance Access published on December 16, 2008
Hum. Mol. Genet. 2009 18: 1122-1130; doi:10.1093/hmg/ddn427 [Abstract] [Full Text] [PDF] [Request Permissions]  

Alison M. Dunning, Catherine S. Healey, Caroline Baynes, Ana-Teresa Maia, Serena Scollen, Ana Vega, Raquel Rodríguez, Nuno L. Barbosa-Morais, Bruce A.J. Ponder for SEARCH, Yen-Ling Low, Sheila Bingham for EPIC, Christopher A. Haiman, Loic Le Marchand for MEC, Annegien Broeks, Marjanka K. Schmidt for ABCS, John Hopper, Melissa Southey for ABCFS, Matthias W. Beckmann, Peter A. Fasching for BBCC, Julian Peto, Nichola Johnson for BBCS, Stig E. Bojesen, Børge Nordestgaard for CGPS, Roger L. Milne, Javier Benitez for CNIO-BCS, Ute Hamann, Yon Ko for GENICA, Rita K. Schmutzler, Barbara Burwinkel for GC-HBOC, Peter Schürmann, Thilo Dörk for HABCS, Tuomas Heikkinen, Heli Nevanlinna for HEBCS, Annika Lindblom, Sara Margolin for KARBAC, Arto Mannermaa, Veli-Matti Kosma for KBCS, Xiaoqing Chen, Amanda Spurdle for kConFab and the AOCS Management Group, Jenny Change-Claude, Dieter Flesch-Janys for MARIE, Fergus J. Couch, Janet E. Olson for MCBCS, Gianluca Severi, Laura Baglietto for MCCS, Anne-Lise Børresen-Dale, Vessela Kristensen for NBCS, David J. Hunter, Susan E. Hankinson for NHS, Peter Devilee, Maaike Vreeswijk for ORIGO, Jolanta Lissowska, Louise Brinton for PBCS, Jianjun Liu, Per Hall for SASBAC, Daehee Kang, Keun-Young Yoo for SEBCS, Chen-Yang Shen, Jyh-Cherng Yu for TWBCS, Hoda Anton-Culver, Argyrios Ziogoas for UCIBCS, Alice Sigurdson, Jeff Struewing for USRTS, Douglas F. Easton, Montserrat Garcia-Closas, Manjeet K. Humphreys, Jonathan Morrison, Paul D.P. Pharoah, Karen A. Pooley, and Georgia Chenevix-Trench for BCAC
Association of ESR1 gene tagging SNPs with breast cancer risk
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1131-1139; doi:10.1093/hmg/ddn429 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Melissa A. Calton, Baran A. Ersoy, Sumei Zhang, John P. Kane, Mary J. Malloy, Clive R. Pullinger, Yana Bromberg, Len A. Pennacchio, Robert Dent, Ruth McPherson, Nadav Ahituv, and Christian Vaisse
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study
Human Molecular Genetics Advance Access published on December 17, 2008
Hum. Mol. Genet. 2009 18: 1140-1147; doi:10.1093/hmg/ddn431 [Abstract] [Full Text] [PDF] [Request Permissions]  

Lotta L.E. Koskinen, Elisabet Einarsdottir, Emma Dukes, Graham A. R. Heap, Patrick Dubois, Ilma R. Korponay-Szabo, Katri Kaukinen, Kalle Kurppa, Fabiana Ziberna, Serena Vatta, Tarcisio Not, Alessandro Ventura, Pertti Sistonen, Róza Ádány, Zsuzsa Pocsai, György Széles, Markku Mäki, Juha Kere, Cisca Wijmenga, David A. van Heel, and Päivi Saavalainen
Association study of the IL18RAP locus in three European populations with coeliac disease
Human Molecular Genetics Advance Access published on December 22, 2008
Hum. Mol. Genet. 2009 18: 1148-1155; doi:10.1093/hmg/ddn438 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Huai-Dong Song, Jun Liang, Jing-Yi Shi, Shuang-Xia Zhao, Zhi Liu, Jia-Jun Zhao, Yong-De Peng, Guan-Qi Gao, Jiong Tao, Chun-Ming Pan, Li Shao, Feng Cheng, Yi Wang, Guo-Yue Yuan, Chao Xu, Bing Han, Wei Huang, Xun Chu, Yi Chen, Yan Sheng, Rong-Ying Li, Qing Su, Ling Gao, Wei-Ping Jia, Li Jin, Ming-Dao Chen, Sai-Juan Chen, Zhu Chen, and Jia-Lun Chen
Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1156-1170; doi:10.1093/hmg/ddn442 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Shizhong Han, Xana Kim-Howard, Harshal Deshmukh, Yoichiro Kamatani, Parvathi Viswanathan, Joel M. Guthridge, Kenaz Thomas, Kenneth M. Kaufman, Joshua Ojwang, Adriana Rojas-Villarraga, Vicente Baca, Lorena Orozco, Benjamin Rhodes, Chan-Bum Choi, Peter K. Gregersen, Joan T. Merrill, Judith A. James, Patrick M. Gaffney, Kathy L. Moser, Chaim O. Jacob, Robert P. Kimberly, John B. Harley, Sang-Choel Bae, Juan-Manuel Anaya, Marta E. Alarcón-Riquelme, Koichi Matsuda, Timothy J. Vyse, and Swapan K. Nath
Evaluation of imputation-based association in and around the integrin-{alpha}-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE)
Human Molecular Genetics Advance Access published on January 6, 2009
Hum. Mol. Genet. 2009 18: 1171-1180; doi:10.1093/hmg/ddp007 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp095 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp096 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp097 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp094 [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.