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Previous Next 		Contents: Volume 17, Number 9, 1 May 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

Kazuhiro Kobuke, Federica Piccolo, Keith W. Garringer, Steven A. Moore, Eileen Sweezer, Baoli Yang, and Kevin P. Campbell
A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice
Human Molecular Genetics Advance Access published on February 5, 2008
Hum. Mol. Genet. 2008 17: 1201-1213; doi:10.1093/hmg/ddn009 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Marc Bartoli, Evelyne Gicquel, Laetitia Barrault, Tayebeh Soheili, Marie Malissen, Bernard Malissen, Nathalie Vincent-Lacaze, Norma Perez, Bjarne Udd, Olivier Danos, and Isabelle Richard
Mannosidase I inhibition rescues the human {alpha}-sarcoglycan R77C recurrent mutation
Human Molecular Genetics Advance Access published on February 5, 2008
Hum. Mol. Genet. 2008 17: 1214-1221; doi:10.1093/hmg/ddn029 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Frank Plöger, Petra Seemann, Mareen Schmidt-von Kegler, Katarina Lehmann, Jörg Seidel, Klaus W. Kjaer, Jens Pohl, and Stefan Mundlos
Brachydactyly type A2 associated with a defect in proGDF5 processing
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1222-1233; doi:10.1093/hmg/ddn012 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Josep Maria Mercader, Ester Saus, Zaida Agüera, Mònica Bayés, Claudette Boni, Anna Carreras, Elena Cellini, Rafael de Cid, Mara Dierssen, Geòrgia Escaramís, Fernando Fernández-Aranda, Laura Forcano, Xavier Gallego, Juan Ramón González, Philip Gorwood, Johannes Hebebrand, Anke Hinney, Benedetta Nacmias, Anna Puig, Marta Ribasés, Valdo Ricca, Lucia Romo, Sandro Sorbi, Audrey Versini, Mònica Gratacòs, and Xavier Estivill
Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1234-1244; doi:10.1093/hmg/ddn013 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Bettina Ebbing, Klaudiusz Mann, Agata Starosta, Johann Jaud, Ludger Schöls, Rebecca Schüle, and Günther Woehlke
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1245-1252; doi:10.1093/hmg/ddn014 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Valérie Choesmel, Sébastien Fribourg, Almass-Houd Aguissa-Touré, Noël Pinaud, Pierre Legrand, Hanna T. Gazda, and Pierre-Emmanuel Gleizes
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
Human Molecular Genetics Advance Access published on January 29, 2008
Hum. Mol. Genet. 2008 17: 1253-1263; doi:10.1093/hmg/ddn015 [Abstract] [Full Text] [PDF] [Request Permissions]  

Anne-Amandine Chassot, Fariba Ranc, Elodie P. Gregoire, Hermien L. Roepers-Gajadien, Makoto M. Taketo, Giovanna Camerino, Dirk G. de Rooij, Andreas Schedl, and Marie-Christine Chaboissier
Activation of β-catenin signaling by Rspo1 controls differentiation of the mammalian ovary
Human Molecular Genetics Advance Access published on February 4, 2008
Hum. Mol. Genet. 2008 17: 1264-1277; doi:10.1093/hmg/ddn016 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kazuma Tomizuka, Kaori Horikoshi, Rina Kitada, Yuriko Sugawara, Yumi Iba, Ayako Kojima, Akiko Yoshitome, Kengo Yamawaki, Mikiko Amagai, Ayano Inoue, Takeshi Oshima, and Makoto Kakitani
R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling
Human Molecular Genetics Advance Access published on February 4, 2008
Hum. Mol. Genet. 2008 17: 1278-1291; doi:10.1093/hmg/ddn036 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Saikat Mukherjee, Bidesh Mahata, Biraj Mahato, and Samit Adhya
Targeted mRNA degradation by complex-mediated delivery of antisense RNAs to intracellular human mitochondria
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1292-1298; doi:10.1093/hmg/ddn017 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Paul N. Baird, Luba D. Robman, Andrea J. Richardson, Peter N. Dimitrov, Gabriella Tikellis, Catherine A. McCarty, and Robyn H. Guymer
Gene–environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1299-1305; doi:10.1093/hmg/ddn018 [Abstract] [Full Text] [PDF] [Request Permissions]  

Vincent Dion, Yunfu Lin, Leroy Hubert, Jr., Robert A. Waterland, and John H. Wilson
Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
Human Molecular Genetics Advance Access published on February 5, 2008
Hum. Mol. Genet. 2008 17: 1306-1317; doi:10.1093/hmg/ddn019 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Beth S. Sutton, David R. Crosslin, Svati H. Shah, Sarah C. Nelson, Anthony Bassil, A. Brent Hale, Carol Haynes, Pascal J. Goldschmidt-Clermont, Jeffery M. Vance, David Seo, William E. Kraus, Simon G. Gregory, and Elizabeth R. Hauser
Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case–control and family datasets
Human Molecular Genetics Advance Access published on January 18, 2008
Hum. Mol. Genet. 2008 17: 1318-1328; doi:10.1093/hmg/ddn020 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Jin-kai Wang, Yi Li, and Bing Su
A common SNP of MCPH1 is associated with cranial volume variation in Chinese population
Human Molecular Genetics Advance Access published on January 19, 2008
Hum. Mol. Genet. 2008 17: 1329-1335; doi:10.1093/hmg/ddn021 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Xiaowei Chen, JoEllen Weaver, Betsy A. Bove, Lisa A. Vanderveer, Susan C. Weil, Alexander Miron, Mary B. Daly, and Andrew K. Godwin
Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk
Human Molecular Genetics Advance Access published on January 19, 2008
Hum. Mol. Genet. 2008 17: 1336-1348; doi:10.1093/hmg/ddn022 [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.