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Previous Next 		Contents: Volume 17, Number 16, 15 August 2008   [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

Dominic Furniss, Laura A. Lettice, Indira B. Taylor, Paul S. Critchley, Henk Giele, Robert E. Hill, and Andrew O.M. Wilkie
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
Human Molecular Genetics Advance Access published on May 7, 2008
Hum. Mol. Genet. 2008 17: 2417-2423; doi:10.1093/hmg/ddn141 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Benjamin M. Hogan, Jeroen Bussmann, Hartwig Wolburg, and Stefan Schulte-Merker
ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2424-2432; doi:10.1093/hmg/ddn142 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hasan O. Akman, Beatriz Dorado, Luis C. López, Ángeles García-Cazorla, Maya R. Vilà, Lauren M. Tanabe, William T. Dauer, Eduardo Bonilla, Kurenai Tanji, and Michio Hirano
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Human Molecular Genetics Advance Access published on May 8, 2008
Hum. Mol. Genet. 2008 17: 2433-2440; doi:10.1093/hmg/ddn143 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ashley S. Pawlisz, Christopher Mutch, Anthony Wynshaw-Boris, Anjen Chenn, Christopher A. Walsh, and Yuanyi Feng
Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2441-2455; doi:10.1093/hmg/ddn144 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

C. Leigh Pearce, David J. Van Den Berg, Nick Makridakis, Juergen K.V. Reichardt, Ronald K. Ross, Malcolm C. Pike, Laurence N. Kolonel, and Brian E. Henderson
No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learned
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2456-2461; doi:10.1093/hmg/ddn145 [Abstract] [Full Text] [PDF] [Request Permissions]  

Katherine E. Burdick, Atsushi Kamiya, Colin A. Hodgkinson, Todd Lencz, Pamela DeRosse, Koko Ishizuka, Sarah Elashvili, Hiroyuki Arai, David Goldman, Akira Sawa, and Anil K. Malhotra
Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: Evidence of epistasis and competitive binding
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2462-2473; doi:10.1093/hmg/ddn146 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Jonathan M. Skarie and Brian A. Link
The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress–response pathway
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2474-2485; doi:10.1093/hmg/ddn147 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jessica Molina, Paulina Carmona-Mora, Jacqueline Chrast, Paola M. Krall, César P. Canales, James R. Lupski, Alexandre Reymond, and Katherina Walz
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
Human Molecular Genetics Advance Access published on May 10, 2008
Hum. Mol. Genet. 2008 17: 2486-2495; doi:10.1093/hmg/ddn148 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Neil Ashley, Anthony O'Rourke, Conrad Smith, Susan Adams, Vasantha Gowda, Massimo Zeviani, Garry K. Brown, Carl Fratter, and Joanna Poulton
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
Human Molecular Genetics Advance Access published on May 16, 2008
Hum. Mol. Genet. 2008 17: 2496-2506; doi:10.1093/hmg/ddn150 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

En Kimura, Jay J. Han, Sheng Li, Brent Fall, Jennifer Ra, Miki Haraguchi, Stephen J. Tapscott, and Jeffrey S. Chamberlain
Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy
Human Molecular Genetics Advance Access published on May 29, 2008
Hum. Mol. Genet. 2008 17: 2507-2517; doi:10.1093/hmg/ddn151 [Abstract] [Full Text] [PDF] [Request Permissions]  

Massimo Mangino, Scott Brouilette, Peter Braund, Nighat Tirmizi, Mariuca Vasa-Nicotera, John R. Thompson, and Nilesh J. Samani
A regulatory SNP of the BICD1 gene contributes to telomere length variation in humans
Human Molecular Genetics Advance Access published on May 16, 2008
Hum. Mol. Genet. 2008 17: 2518-2523; doi:10.1093/hmg/ddn152 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Haruka Sudo and Yoshiro Maru
LAPSER1/LZTS2: a pluripotent tumor suppressor linked to the inhibition of katanin-mediated microtubule severing
Human Molecular Genetics Advance Access published on May 18, 2008
Hum. Mol. Genet. 2008 17: 2524-2540; doi:10.1093/hmg/ddn153 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Gilles Maussion, Jérôme Carayol, Aude-Marie Lepagnol-Bestel, Frédéric Tores, Yann Loe-Mie, Ulla Milbreta, Francis Rousseau, Karine Fontaine, Julie Renaud, Jean-Marie Moalic, Anne Philippi, Alain Chedotal, Philip Gorwood, Nicolas Ramoz, Jörg Hager, and Michel Simonneau
Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism
Human Molecular Genetics Advance Access published on May 20, 2008
Hum. Mol. Genet. 2008 17: 2541-2551; doi:10.1093/hmg/ddn154 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Shingo Kariya, Gyu-Hwan Park, Yuka Maeno-Hikichi, Olga Leykekhman, Cathleen Lutz, Marc S. Arkovitz, Lynn T. Landmesser, and Umrao R. Monani
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Human Molecular Genetics Advance Access published on May 20, 2008
Hum. Mol. Genet. 2008 17: 2552-2569; doi:10.1093/hmg/ddn156 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Esther S.P. Wong, Jeanne M.M. Tan, Wen-E Soong, Kamila Hussein, Nobuyuki Nukina, Valina L. Dawson, Ted M. Dawson, Ana Maria Cuervo, and Kah-Leong Lim
Autophagy-mediated clearance of aggresomes is not a universal phenomenon
Human Molecular Genetics Advance Access published on May 23, 2008
Hum. Mol. Genet. 2008 17: 2570-2582; doi:10.1093/hmg/ddn157 [Abstract] [Full Text] [PDF] [Supplementary Data] [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.