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Contents: Volume 18, Number 3, 1 February 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

Jonathan D. Wood, Franziska Bonath, Shashvita Kumar, Christopher A. Ross, and Vincent T. Cunliffe
Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 391-404; doi:10.1093/hmg/ddn361 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Chia-Feng Liu, Nathan Bingham, Keith Parker, and Humphrey H.-C. Yao
Sex-specific roles of β-catenin in mouse gonadal development
Human Molecular Genetics Advance Access published on November 3, 2008
Hum. Mol. Genet. 2009 18: 405-417; doi:10.1093/hmg/ddn362 [Abstract] [Full Text] [PDF] [Request Permissions]  

Ekaterina Revenkova, Maria Luisa Focarelli, Lucia Susani, Marianna Paulis, Maria Teresa Bassi, Linda Mannini, Annalisa Frattini, Domenico Delia, Ian Krantz, Paolo Vezzoni, Rolf Jessberger, and Antonio Musio
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 418-427; doi:10.1093/hmg/ddn369 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Véronique Serre-Beinier, Domenico Bosco, Laurence Zulianello, Anne Charollais, Dorothée Caille, Eric Charpantier, Benoit R. Gauthier, Giuseppe R. Diaferia, Ben N. Giepmans, Roberto Lupi, Piero Marchetti, Shaoping Deng, Léo Buhler, Thierry Berney, Vincenzo Cirulli, and Paolo Meda
Cx36 makes channels coupling human pancreatic β-cells, and correlates with insulin expression
Human Molecular Genetics Advance Access published on November 10, 2008
Hum. Mol. Genet. 2009 18: 428-439; doi:10.1093/hmg/ddn370 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ariane Dimitrov, Vincent Paupe, Charles Gueudry, Jean-Baptiste Sibarita, Graça Raposo, Ole Vielemeyer, Thierry Gilbert, Zsolt Csaba, Tania Attie-Bitach, Valérie Cormier-Daire, Pierre Gressens, Pierre Rustin, Franck Perez, and Vincent El Ghouzzi
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 440-453; doi:10.1093/hmg/ddn371 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yubing Lu, Fay Wang, Yan Li, Jacob Ferris, Jin-A Lee, and Fen-Biao Gao
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 454-462; doi:10.1093/hmg/ddn373 [Abstract] [Full Text] [PDF] [Request Permissions]  

Dale L. Bodian, Ting-Fung Chan, Annie Poon, Ulrike Schwarze, Kathleen Yang, Peter H. Byers, Pui-Yan Kwok, and Teri E. Klein
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 463-471; doi:10.1093/hmg/ddn374 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Claire L. Simpson, Robin Lemmens, Katarzyna Miskiewicz, Wendy J. Broom, Valerie K. Hansen, Paul W.J. van Vught, John E. Landers, Peter Sapp, Ludo Van Den Bosch, Joanne Knight, Benjamin M. Neale, Martin R. Turner, Jan H. Veldink, Roel A. Ophoff, Vineeta B. Tripathi, Ana Beleza, Meera N. Shah, Petroula Proitsi, Annelies Van Hoecke, Peter Carmeliet, H. Robert Horvitz, P. Nigel Leigh, Christopher E. Shaw, Leonard H. van den Berg, Pak C. Sham, John F. Powell, Patrik Verstreken, Robert H. Brown, Jr, Wim Robberecht, and Ammar Al-Chalabi
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 472-481; doi:10.1093/hmg/ddn375 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

S. Armando Villalta, Hal X. Nguyen, Bo Deng, Tomomi Gotoh, and James G. Tidball
Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 482-496; doi:10.1093/hmg/ddn376 [Abstract] [Full Text] [PDF] [Request Permissions]  

Russell J. Ferland, Luis Federico Batiz, Jason Neal, Gewei Lian, Elizabeth Bundock, Jie Lu, Yi-Chun Hsiao, Rachel Diamond, Davide Mei, Alison H. Banham, Philip J. Brown, Charles R. Vanderburg, Jeffrey Joseph, Jonathan L. Hecht, Rebecca Folkerth, Renzo Guerrini, Christopher A. Walsh, Esteban M. Rodriguez, and Volney L. Sheen
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 497-516; doi:10.1093/hmg/ddn377 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Renate Zeevaert, François Foulquier, Boyan Dimitrov, Ellen Reynders, Rita Van Damme-Lombaerts, Emil Simeonov, Wim Annaert, Gert Matthijs, and Jaak Jaeken
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
Human Molecular Genetics Advance Access published on November 13, 2008
Hum. Mol. Genet. 2009 18: 517-524; doi:10.1093/hmg/ddn379 [Abstract] [Full Text] [PDF] [Request Permissions]  

Susan E. Swanberg, Raman P. Nagarajan, Sailaja Peddada, Dag H. Yasui, and Janine M. LaSalle
Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism
Human Molecular Genetics Advance Access published on November 10, 2008
Hum. Mol. Genet. 2009 18: 525-534; doi:10.1093/hmg/ddn380 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Hayley J. Little, Nicholas K. Rorick, Ling-I Su, Clair Baldock, Saimon Malhotra, Tom Jowitt, Lokesh Gakhar, Ramaswamy Subramanian, Brian C. Schutte, Michael J. Dixon, and Paul Shore
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
Human Molecular Genetics Advance Access published on November 26, 2008
Hum. Mol. Genet. 2009 18: 535-545; doi:10.1093/hmg/ddn381 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Kathrin Meyer, Julien Marquis, Judith Trüb, Rachel Nlend Nlend, Sonia Verp, Marc-David Ruepp, Hans Imboden, Isabelle Barde, Didier Trono, and Daniel Schümperli
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
Human Molecular Genetics Advance Access published on November 13, 2008
Hum. Mol. Genet. 2009 18: 546-555; doi:10.1093/hmg/ddn382 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yang Lou, Amjad Javed, Sadiq Hussain, Jennifer Colby, Dana Frederick, Jitesh Pratap, Ronglin Xie, Tripti Gaur, Andre J. van Wijnen, Stephen N. Jones, Gary S. Stein, Jane B. Lian, and Janet L. Stein
A Runx2 threshold for the cleidocranial dysplasia phenotype
Human Molecular Genetics Advance Access published on November 20, 2008
Hum. Mol. Genet. 2009 18: 556-568; doi:10.1093/hmg/ddn383 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Valeria Orrú, Sophia J. Tsai, Blanca Rueda, Edoardo Fiorillo, Stephanie M. Stanford, Jhimli Dasgupta, Jaana Hartiala, Lei Zhao, Norberto Ortego-Centeno, Sandra D’Alfonso The Italian Collaborative Group, Frank C. Arnett, Hui Wu, Miguel A. Gonzalez-Gay, Betty P. Tsao, Bernardo Pons-Estel, Marta E. Alarcon-Riquelme, Yantao He, Zhong-Yin Zhang, Hooman Allayee, Xiaojiang S. Chen, Javier Martin, and Nunzio Bottini
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
Human Molecular Genetics Advance Access published on November 3, 2008
Hum. Mol. Genet. 2009 18: 569-579; doi:10.1093/hmg/ddn363 [Abstract] [Full Text] [PDF] [Request Permissions]  

Stuart Macgregor, Penelope A. Lind, Kathleen K. Bucholz, Narelle K. Hansell, Pamela A.F. Madden, Melinda M. Richter, Grant W. Montgomery, Nicholas G. Martin, Andrew C. Heath, and John B. Whitfield
Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis
Human Molecular Genetics Advance Access published on November 7, 2008
Hum. Mol. Genet. 2009 18: 580-593; doi:10.1093/hmg/ddn372 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ERRATUM Back

Han-Xiang Deng, Hujun Jiang, Ronggen Fu, Hong Zhai, Yong Shi, Erdong Liu, Makito Hirano, Mauro C. Dal Canto, and Teepu Siddique
Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach
Human Molecular Genetics Advance Access published on December 2, 2008
Hum. Mol. Genet. 2009 18: 594; doi:10.1093/hmg/ddn368 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp016 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp017 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp018 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp019 [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.