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Previous Next 		Contents: Volume 18, Number 18, 15 September 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

Takashi Nonaka, Fuyuki Kametani, Tetsuaki Arai, Haruhiko Akiyama, and Masato Hasegawa
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
Human Molecular Genetics Advance Access published on June 10, 2009
Hum. Mol. Genet. 2009 18: 3353-3364; doi:10.1093/hmg/ddp275 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Rolf J.R.J. Janssen, Felix Distelmaier, Roel Smeets, Tessa Wijnhoven, Elsebet Østergaard, Nicolaas G.J. Jaspers, Anja Raams, Stephan Kemp, Richard J.T. Rodenburg, Peter H.M.G. Willems, Lambert P.W.J. van den Heuvel, Jan A.M. Smeitink, and Leo G.J. Nijtmans
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
Human Molecular Genetics Advance Access published on June 12, 2009
Hum. Mol. Genet. 2009 18: 3365-3374; doi:10.1093/hmg/ddp276 [Abstract] [Full Text] [PDF] [Request Permissions]  

Amandine Henckel, Kazuhiko Nakabayashi, Lionel A. Sanz, Robert Feil, Kenichiro Hata, and Philippe Arnaud
Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals
Human Molecular Genetics Advance Access published on June 10, 2009
Hum. Mol. Genet. 2009 18: 3375-3383; doi:10.1093/hmg/ddp277 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W. Birrell, Talat Nasim, Olivier J. Becherel, and Martin F. Lavin
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
Human Molecular Genetics Advance Access published on June 10, 2009
Hum. Mol. Genet. 2009 18: 3384-3396; doi:10.1093/hmg/ddp278 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hiroki Kurahashi, Hidehito Inagaki, Takema Kato, Eriko Hosoba, Hiroshi Kogo, Tamae Ohye, Makiko Tsutsumi, Hasbaira Bolor, Maoqing Tong, and Beverly S. Emanuel
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells
Human Molecular Genetics Advance Access published on June 11, 2009
Hum. Mol. Genet. 2009 18: 3397-3406; doi:10.1093/hmg/ddp279 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Adriana Malena, Emanuele Loro, Miriam Di Re, Ian J. Holt, and Lodovica Vergani
Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA
Human Molecular Genetics Advance Access published on June 27, 2009
Hum. Mol. Genet. 2009 18: 3407-3416; doi:10.1093/hmg/ddp281 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Michael W. Killen, Dawn M. Stults, Noritaka Adachi, Les Hanakahi, and Andrew J. Pierce
Loss of Bloom syndrome protein destabilizes human gene cluster architecture
Human Molecular Genetics Advance Access published on June 19, 2009
Hum. Mol. Genet. 2009 18: 3417-3428; doi:10.1093/hmg/ddp282 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Stephen T. Bradford, Dagmar Wilhelm, Roberto Bandiera, Valerie Vidal, Andreas Schedl, and Peter Koopman
A cell-autonomous role for WT1 in regulating Sry in vivo
Human Molecular Genetics Advance Access published on June 23, 2009
Hum. Mol. Genet. 2009 18: 3429-3438; doi:10.1093/hmg/ddp283 [Abstract] [Full Text] [PDF] [Request Permissions]  

Michelle Wehling-Henricks, Meredith Oltmann, Chiara Rinaldi, Kyu H. Myung, and James G. Tidball
Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy
Human Molecular Genetics Advance Access published on June 19, 2009
Hum. Mol. Genet. 2009 18: 3439-3451; doi:10.1093/hmg/ddp288 [Abstract] [Full Text] [PDF] [Request Permissions]  

Agustín Tortajada, Tamara Montes, Rubén Martínez-Barricarte, B. Paul Morgan, Claire L. Harris, and Santiago Rodríguez de Córdoba
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
Human Molecular Genetics Advance Access published on June 23, 2009
Hum. Mol. Genet. 2009 18: 3452-3461; doi:10.1093/hmg/ddp289 [Abstract] [Full Text] [PDF] [Request Permissions]  

Ruben Attali, Nasim Warwar, Ariel Israel, Irina Gurt, Elizabeth McNally, Megan Puckelwartz, Benjamin Glick, Yoram Nevo, Ziva Ben-Neriah, and Judith Melki
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
Human Molecular Genetics Advance Access published on June 19, 2009
Hum. Mol. Genet. 2009 18: 3462-3469; doi:10.1093/hmg/ddp290 [Abstract] [Full Text] [PDF] [Request Permissions]  

Shepherd H. Schurman, Mohammad Hedayati, ZhengMing Wang, Dharmendra K. Singh, Elzbieta Speina, Yongqing Zhang, Kevin Becker, Margaret Macris, Patrick Sung, David M. Wilson, III, Deborah L. Croteau, and Vilhelm A. Bohr
Direct and indirect roles of RECQL4 in modulating base excision repair capacity
Human Molecular Genetics Advance Access published on June 29, 2009
Hum. Mol. Genet. 2009 18: 3470-3483; doi:10.1093/hmg/ddp291 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sietske T. Bakker, Henri J. van de Vrugt, Martin A. Rooimans, Anneke B. Oostra, Jurgen Steltenpool, Elly Delzenne-Goette, Anja van der Wal, Martin van der Valk, Hans Joenje, Hein te Riele, and Johan P. de Winter
Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M
Human Molecular Genetics Advance Access published on June 26, 2009
Hum. Mol. Genet. 2009 18: 3484-3495; doi:10.1093/hmg/ddp297 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Tuomas O. Kilpeläinen, Sheila A. Bingham, Kay-Tee Khaw, Nicholas J. Wareham, and Ruth J.F. Loos
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study
Human Molecular Genetics Advance Access published on June 15, 2009
Hum. Mol. Genet. 2009 18: 3496-3501; doi:10.1093/hmg/ddp280 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Chris Cotsapas, Elizabeth K. Speliotes, Ida J. Hatoum, Danielle M. Greenawalt, Radu Dobrin, Pek Y. Lum, Christine Suver, Eugene Chudin, Daniel Kemp, Marc Reitman, Benjamin F. Voight, Benjamin M. Neale, Eric E. Schadt, Joel N. Hirschhorn, Lee M. Kaplan, Mark J. Daly, and the GIANT Consortium
Common body mass index-associated variants confer risk of extreme obesity
Human Molecular Genetics Advance Access published on June 24, 2009
Hum. Mol. Genet. 2009 18: 3502-3507; doi:10.1093/hmg/ddp292 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Qibin Qi, Huaixing Li, Ruth J.F. Loos, Chen Liu, Ying Wu, Frank B. Hu, Hongyu Wu, Ling Lu, Zhijie Yu, and Xu Lin
Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
Human Molecular Genetics Advance Access published on June 25, 2009
Hum. Mol. Genet. 2009 18: 3508-3515; doi:10.1093/hmg/ddp294 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Karol Estrada, Michael Krawczak, Stefan Schreiber, Kate van Duijn, Lisette Stolk, Joyce B.J. van Meurs, Fan Liu, Brenda W.J.H. Penninx, Jan H. Smit, Nicole Vogelzangs, Jouke Jan Hottenga, Gonneke Willemsen, Eco J.C. de Geus, Mattias Lorentzon, Huberta von Eller-Eberstein, Paul Lips, Natascha Schoor, Victor Pop, Jules de Keijzer, Albert Hofman, Yurii S. Aulchenko, Ben A. Oostra, Claes Ohlsson, Dorret I. Boomsma, Andre G. Uitterlinden, Cornelia M. van Duijn, Fernando Rivadeneira, and Manfred Kayser
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
Human Molecular Genetics Advance Access published on July 1, 2009
Hum. Mol. Genet. 2009 18: 3516-3524; doi:10.1093/hmg/ddp296 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

David M. Evans, Peter M. Visscher, and Naomi R. Wray
Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk
Human Molecular Genetics Advance Access published on June 24, 2009
Hum. Mol. Genet. 2009 18: 3525-3531; doi:10.1093/hmg/ddp295 [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/ddp349 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp350 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp351 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp348 [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.