@article {Kobuke:2008:0964-6906:1201, author = "Kobuke, Kazuhiro and Piccolo, Federica and Garringer, Keith W. and Moore, Steven A. and Sweezer, Eileen and Yang, Baoli and Campbell, Kevin P.", title = "A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1201-1213", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00001", doi = "doi:10.1093/hmg/ddn009" } @article {Bartoli:2008:0964-6906:1214, author = "Bartoli, Marc and Gicquel, Evelyne and Barrault, Laetitia and Soheili, Tayebeh and Malissen, Marie and Malissen, Bernard and Vincent-Lacaze, Nathalie and Perez, Norma and Udd, Bjarne and Danos, Olivier and Richard, Isabelle", title = "Mannosidase I inhibition rescues the human -sarcoglycan R77C recurrent mutation", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1214-1221", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00002", doi = "doi:10.1093/hmg/ddn029" } @article {Plger:2008:0964-6906:1222, author = "Plger, Frank and Seemann, Petra and Schmidt-von Kegler, Mareen and Lehmann, Katarina and Seidel, Jrg and Kjaer, Klaus W. and Pohl, Jens and Mundlos, Stefan", title = "Brachydactyly type A2 associated with a defect in proGDF5 processing", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1222-1233", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00003", doi = "doi:10.1093/hmg/ddn012" } @article {Mercader:2008:0964-6906:1234, author = "Mercader, Josep Maria and Saus, Ester and Agera, Zaida and Bays, Mnica and Boni, Claudette and Carreras, Anna and Cellini, Elena and de Cid, Rafael and Dierssen, Mara and Escarams, Gergia and Fernndez-Aranda, Fernando and Forcano, Laura and Gallego, Xavier and Gonzlez, Juan Ramn and Gorwood, Philip and Hebebrand, Johannes and Hinney, Anke and Nacmias, Benedetta and Puig, Anna and Ribass, Marta and Ricca, Valdo and Romo, Lucia and Sorbi, Sandro and Versini, Audrey and Gratacs, Mnica and Estivill, Xavier", title = "Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1234-1244", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00004", doi = "doi:10.1093/hmg/ddn013" } @article {Ebbing:2008:0964-6906:1245, author = "Ebbing, Bettina and Mann, Klaudiusz and Starosta, Agata and Jaud, Johann and Schls, Ludger and Schle, Rebecca and Woehlke, Gnther", title = "Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1245-1252", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00005", doi = "doi:10.1093/hmg/ddn014" } @article {Choesmel:2008:0964-6906:1253, author = "Choesmel, Valrie and Fribourg, Sbastien and Aguissa-Tour, Almass-Houd and Pinaud, Nol and Legrand, Pierre and Gazda, Hanna T. and Gleizes, Pierre-Emmanuel", title = "Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1253-1263", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00006", doi = "doi:10.1093/hmg/ddn015" } @article {Chassot:2008:0964-6906:1264, author = "Chassot, Anne-Amandine and Ranc, Fariba and Gregoire, Elodie P. and Roepers-Gajadien, Hermien L. and Taketo, Makoto M. and Camerino, Giovanna and de Rooij, Dirk G. and Schedl, Andreas and Chaboissier, Marie-Christine", title = "Activation of -catenin signaling by Rspo1 controls differentiation of the mammalian ovary", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1264-1277", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00007", doi = "doi:10.1093/hmg/ddn016" } @article {Tomizuka:2008:0964-6906:1278, author = "Tomizuka, Kazuma and Horikoshi, Kaori and Kitada, Rina and Sugawara, Yuriko and Iba, Yumi and Kojima, Ayako and Yoshitome, Akiko and Yamawaki, Kengo and Amagai, Mikiko and Inoue, Ayano and Oshima, Takeshi and Kakitani, Makoto", title = "R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1278-1291", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00008", doi = "doi:10.1093/hmg/ddn036" } @article {Mukherjee:2008:0964-6906:1292, author = "Mukherjee, Saikat and Mahata, Bidesh and Mahato, Biraj and Adhya, Samit", title = "Targeted mRNA degradation by complex-mediated delivery of antisense RNAs to intracellular human mitochondria", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1292-1298", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00009", doi = "doi:10.1093/hmg/ddn017" } @article {Baird:2008:0964-6906:1299, author = "Baird, Paul N. and Robman, Luba D. and Richardson, Andrea J. and Dimitrov, Peter N. and Tikellis, Gabriella and McCarty, Catherine A. and Guymer, Robyn H.", title = "Geneenvironment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1299-1305", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00010", doi = "doi:10.1093/hmg/ddn018" } @article {Dion:2008:0964-6906:1306, author = "Dion, Vincent and Lin, Yunfu and Hubert, Leroy and Waterland, Robert A. and Wilson, John H.", title = "Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1306-1317", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00011", doi = "doi:10.1093/hmg/ddn019" } @article {Sutton:2008:0964-6906:1318, author = "Sutton, Beth S. and Crosslin, David R. and Shah, Svati H. and Nelson, Sarah C. and Bassil, Anthony and Hale, A. Brent and Haynes, Carol and Goldschmidt-Clermont, Pascal J. and Vance, Jeffery M. and Seo, David and Kraus, William E. and Gregory, Simon G. and Hauser, Elizabeth R.", title = "Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in casecontrol and family datasets", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1318-1328", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00012", doi = "doi:10.1093/hmg/ddn020" } @article {Wang:2008:0964-6906:1329, author = "Wang, Jin-kai and Li, Yi and Su, Bing", title = "A common SNP of MCPH1 is associated with cranial volume variation in Chinese population", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1329-1335", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00013", doi = "doi:10.1093/hmg/ddn021" } @article {Chen:2008:0964-6906:1336, author = "Chen, Xiaowei and Weaver, JoEllen and Bove, Betsy A. and Vanderveer, Lisa A. and Weil, Susan C. and Miron, Alexander and Daly, Mary B. and Godwin, Andrew K.", title = "Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk", journal = "Human Molecular Genetics", volume = "17", number = "9", year = "2008", pages = "1336-1348", url = "http://www.ingentaconnect.com/content/oup/hmg/2008/00000017/00000009/art00014", doi = "doi:10.1093/hmg/ddn022" }