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Previous Next 		Contents: Volume 18, Number 9, 1 May 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

Carla Oliveira, Janine Senz, Pardeep Kaurah, Hugo Pinheiro, Remo Sanges, Anne Haegert, Giovanni Corso, Jan Schouten, Rebecca Fitzgerald, Holger Vogelsang, Gisela Keller, Sarah Dwerryhouse, Donna Grimmer, Suet-Feung Chin, Han-Kwang Yang, Charles E. Jackson, Raquel Seruca, Franco Roviello, Elia Stupka, Carlos Caldas, and David Huntsman
Germline CDH1 deletions in hereditary diffuse gastric cancer families
Human Molecular Genetics Advance Access published on January 24, 2009
Hum. Mol. Genet. 2009 18: 1545-1555; doi:10.1093/hmg/ddp046 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, and J. Paul Chapple
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
Human Molecular Genetics Advance Access published on February 10, 2009
Hum. Mol. Genet. 2009 18: 1556-1565; doi:10.1093/hmg/ddp067 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Si-Tse Jiang, Yuan-Yow Chiou, Ellian Wang, Yi-Lin Chien, Hua-Hui Ho, Fang-Ju Tsai, Chun-Yu Lin, Shu-Ping Tsai, and Hung Li
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse
Human Molecular Genetics Advance Access published on February 9, 2009
Hum. Mol. Genet. 2009 18: 1566-1577; doi:10.1093/hmg/ddp068 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jeong Soon Park, Lokendra Kumar Sharma, Hongzhi Li, Ruihua Xiang, Deborah Holstein, Jun Wu, James Lechleiter, Susan L. Naylor, Janice J. Deng, Jianxin Lu, and Yidong Bai
A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis
Human Molecular Genetics Advance Access published on February 10, 2009
Hum. Mol. Genet. 2009 18: 1578-1589; doi:10.1093/hmg/ddp069 [Abstract] [Full Text] [PDF] [Request Permissions]  

Stefanie Bulst, Angela Abicht, Elke Holinski-Feder, Solvig Müller-Ziermann, Udo Koehler, Christian Thirion, Maggie C. Walter, Joanna D. Stewart, Patrick F. Chinnery, Hanns Lochmüller, and Rita Horvath
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes
Human Molecular Genetics Advance Access published on February 16, 2009
Hum. Mol. Genet. 2009 18: 1590-1599; doi:10.1093/hmg/ddp074 [Abstract] [Full Text] [PDF] [Request Permissions]  

Travis D. Baughan, Alexa Dickson, Erkan Y. Osman, and Christian L. Lorson
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
Human Molecular Genetics Advance Access published on February 19, 2009
Hum. Mol. Genet. 2009 18: 1600-1611; doi:10.1093/hmg/ddp076 [Abstract] [Full Text] [PDF] [Request Permissions]  

Esther M. Maier, Søren W. Gersting, Kristina F. Kemter, Johanna M. Jank, Maria Reindl, Dunja D. Messing, Marietta S. Truger, Christian P. Sommerhoff, and Ania C. Muntau
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Human Molecular Genetics Advance Access published on February 18, 2009
Hum. Mol. Genet. 2009 18: 1612-1623; doi:10.1093/hmg/ddp079 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Amanda E. Carney, Rebecca D. Sanders, Kerry R. Garza, Lee Anne McGaha, Lora J. H. Bean, Bradford W. Coffee, James W. Thomas, David J. Cutler, Natalie L. Kurtkaya, and Judith L. Fridovich-Keil
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase
Human Molecular Genetics Advance Access published on February 18, 2009
Hum. Mol. Genet. 2009 18: 1624-1632; doi:10.1093/hmg/ddp080 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Ligia A. Papale, Barbara Beyer, Julie M. Jones, Lisa M. Sharkey, Sergio Tufik, Michael Epstein, Verity A. Letts, Miriam H. Meisler, Wayne N. Frankel, and Andrew Escayg
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
Human Molecular Genetics Advance Access published on March 2, 2009
Hum. Mol. Genet. 2009 18: 1633-1641; doi:10.1093/hmg/ddp081 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Lijun Wang, Han-Xiang Deng, Gabriella Grisotti, Hong Zhai, Teepu Siddique, and Raymond P. Roos
Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse
Human Molecular Genetics Advance Access published on February 19, 2009
Hum. Mol. Genet. 2009 18: 1642-1651; doi:10.1093/hmg/ddp085 [Abstract] [Full Text] [PDF] [Request Permissions]  

Go Suzuki, Kathryn M. Harper, Takeshi Hiramoto, Takehito Sawamura, MoonSook Lee, Gina Kang, Kenji Tanigaki, Mahalah Buell, Mark A. Geyer, William S. Trimble, Soh Agatsuma, and Noboru Hiroi
Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice
Human Molecular Genetics Advance Access published on February 24, 2009
Hum. Mol. Genet. 2009 18: 1652-1660; doi:10.1093/hmg/ddp086 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Shu-Feng Lei, Li-Jun Tan, Xiao-Gang Liu, Liang Wang, Han Yan, Yan-Fang Guo, Yao-Zhong Liu, Dong-Hai Xiong, Jian Li, Tie-Lin Yang, Xiang-Ding Chen, Yan Guo, Fei-Yan Deng, Yin-Ping Zhang, Xue-Zhen Zhu, Shawn Levy, Christopher J. Papasian, James J. Hamilton, Robert R. Recker, and Hong-Wen Deng
Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation
Human Molecular Genetics Advance Access published on November 27, 2008
Hum. Mol. Genet. 2009 18: 1661-1669; doi:10.1093/hmg/ddn405 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Suvi P. Kallio, Eveliina Jakkula, Shaun Purcell, Minna Suvela, Keijo Koivisto, Pentti J. Tienari, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Denis Bronnikov, Markku Viander, Seppo Meri, Jan Hillert, Frida Lundmark, Hanne F. Harbo, Åslaug R. Lorentzen, Philip L. De Jager, Mark J. Daly, David A. Hafler, Aarno Palotie, Leena Peltonen, and Janna Saarela
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS
Human Molecular Genetics Advance Access published on February 16, 2009
Hum. Mol. Genet. 2009 18: 1670-1683; doi:10.1093/hmg/ddp073 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Henriette Svarre Nielsen, Rudi Steffensen, Kim Varming, Astrid G.S. Van Halteren, Eric Spierings, Lars P. Ryder, Els Goulmy, and Ole Bjarne Christiansen
Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy
Human Molecular Genetics Advance Access published on February 17, 2009
Hum. Mol. Genet. 2009 18: 1684-1691; doi:10.1093/hmg/ddp077 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Miriam S. Udler, Kerstin B. Meyer, Karen A. Pooley, Eric Karlins, Jeffery P. Struewing, Jinghui Zhang, David R. Doody, Stewart MacArthur, Jonathan Tyrer, Paul D. Pharoah, Robert Luben, SEARCH Collaborators, Leslie Bernstein, Laurence N. Kolonel, Brian E. Henderson, Loic Le Marchand, Giske Ursin, Michael F. Press, Paul Brennan, Suleeporn Sangrajrang, Valerie Gaborieau, Fabrice Odefrey, Chen-Yang Shen, Pei-Ei Wu, Hui-Chun Wang, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Bruce A.J. Ponder, Christopher A. Haiman, Kathleen E. Malone, Alison M. Dunning, Elaine A. Ostrander, and Douglas F. Easton
FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation
Human Molecular Genetics Advance Access published on February 17, 2009
Hum. Mol. Genet. 2009 18: 1692-1703; doi:10.1093/hmg/ddp078 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Oliver J. Brand, Jeffrey C. Barrett, Matthew J. Simmonds, Paul R. Newby, Christopher J. McCabe, Christopher K. Bruce, Boris Kysela, Jackie D. Carr-Smith, Thomas Brix, Penny J. Hunt, Wilmar M. Wiersinga, Laszlo Hegedüs, John Connell, John A.H. Wass, Jayne A. Franklyn, Anthony P. Weetman, Joanne M. Heward, and Stephen C.L. Gough
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves’ disease
Human Molecular Genetics Advance Access published on February 25, 2009
Hum. Mol. Genet. 2009 18: 1704-1713; doi:10.1093/hmg/ddp087 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ERRATUM Back

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 February 16, 2009
Hum. Mol. Genet. 2009 18: 1714-1716; doi:10.1093/hmg/ddp062 [Extract] [Full Text] [PDF] [Request Permissions]  

CORRIGENDUM Back

Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, and Stephen W. Scherer
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
Human Molecular Genetics Advance Access published on February 28, 2009
Hum. Mol. Genet. 2009 18: 1717; doi:10.1093/hmg/ddp082 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp144 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp145 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp146 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp143 [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.