@article {Porteous:2000:0964-6906:1, author = "Porteous, Sarah and Torban, Elena and Cho, Nam-Pyo and Cunliffe, Heather and Chua, Lin and McNoe, Les and Ward, Teresa and Souza, Carolina and Gus, Patricia and Giugliani, Roberto and Sato, Tadashi and Yun, Kankatsu and Favor, Jack and Sicotte, Marilyn and Goodyer, Paul and Eccles, Michael", title = "Primary renal hypoplasiain humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax21Neu +- mutant mice", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "1-11", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00001" } @article {Marsh:2000:0964-6906:13, author = "Marsh, J. Lawrence and Walker, Heli and Theisen, Heidi and Zhu, Ya-Zhen and Fielder, Tom and Purcell, Judy and Thompson, Leslie M.", title = "Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "13-25", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00013" } @article {Maw:2000:0964-6906:27, author = "Maw, Marion A. and Corbeil, Denis and Koch, Julia and Hellwig, Andrea and Wilson-Wheeler, Jane C. and Bridges, Robyn J. and Kumaramanickavel, Govindasamy and John, Sheila and Nancarrow, Derek and Roper, Katja and Weigmann, Anja and Huttner, Wieland B. and Denton, Michael J.", title = "A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "27-34", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00027" } @article {Dorschner:2000:0964-6906:35, author = "Dorschner, Michael O. and Sybert, Virginia P. and Weaver, Molly and Pletcher, Beth A. and Stephens, Karen", title = "NF1 microdeletion breakpoints are clustered at flanking repetitive sequences", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "35-46", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00035" } @article {Pagliardini:2000:0964-6906:47, author = "Pagliardini, Silvia and Giavazzi, Alessio and Setola, Veronica and Lizier, Carlotta and Di Luca, Monica and DeBiasi, Silvia and Battaglia, Giorgio", title = "Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "47-56", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00047" } @article {Lambert:2000:0964-6906:57, author = "Lambert, Jean-Charles and Brousseau, Thierry and Defosse, Veronique and Evans, Alun and Arveiler, Dominique and Ruidavets, Jean-Bernard and Haas, Bernadette and Cambou, Jean-Pierre and Luc, Gerald and Ducimetiere, Pierre and Cambien, Francois and Chartier-Harlin, Marie-Christine and Amouyel, Philippe", title = "Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations-the ECTIM Study", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "57-61", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00057" } @article {Liu:2000:0964-6906:63, author = "Liu, Xue-Zhong and Xia, Xia Juan and Xu, Li Rong and Pandya, Arti and Liang, Chuan Yu and Blanton, Susan H. and Brown, Steve D.M. and Steel, Karen P. and Nance, Walter E.", title = "Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "63-67", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00063" } @article {Yoshizawa:2000:0964-6906:69, author = "Yoshizawa, Toshihiro and Yamagishi, Yasuaki and Koseki, Naoteru and Goto, Jun and Yoshida, Hideaki and Shibasaki, Futoshi and Shoji, Shin'ichi and Kanazawa, Ichiro", title = "Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "69-78", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00069" } @article {Phippard:2000:0964-6906:79, author = "Phippard, Deborah and Boyd, Yvonne and Reed, Vivienne and Fisher, Graham and Masson, Walter K. and Evans, Edward P. and Saunders, James C. and Crenshaw III, E. Bryan", title = "The sex-linked fidget mutation abolishes Brn4Pou3f4 gene expression in the embryonic inner ear", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "79-85", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00079" } @article {Nakayama:2000:0964-6906:87, author = "Nakayama, Junko and Hamano, Kenzo and Iwasaki, Nobuaki and Nakahara, Satoko and Horigome, Yumi and Saitoh, Hisako and Aoki, Takeshi and Maki, Takako and Kikuchi, Masahiro and Migita, Takuo and Ohto, Tatsuyuki and Yokouchi, Yukako and Tanaka, Ryuta and Hasegawa, Makoto and Matsui, Akira and Hamaguchi, Hideo and Arinami, Tadao", title = "Significant evidence for linkage of febrile seizures to chromosome 5q14-q15", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "87-91", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00087" } @article {Balakumaran:2000:0964-6906:93, author = "Balakumaran, Bala S. and Freudenreich, Catherine H. and Zakian, Virginia A.", title = "CGGCCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "93-100", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00093" } @article {Holder:2000:0964-6906:101, author = "Holder, J. Lloyd and Butte, Nancy F. and Zinn, Andrew R.", title = "Profound obesity associated with a balanced translocation that disrupts the SIM1 gene", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "101-108", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00101" } @article {Cao:2000:0964-6906:109, author = "Cao, Henian and Hegele, Robert A.", title = "Nuclear lamin AC R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "109-112", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00109" } @article {Horvath:2000:0964-6906:113, author = "Horvath, Juliann E. and Viggiano, Luigi and Loftus, Brendan J. and Adams, Mark D. and Archidiacono, Nicoletta and Rocchi, Mariano and Eichler, Evan E.", title = "Molecular structure and evolution of an alpha satellitenon-alpha satellite junction at 16p11", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "113-123", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00113" } @article {Takeda:2000:0964-6906:125, author = "Takeda, Kazuhisa and Takemoto, Clifford and Kobayashi, Ichiro and Watanabe, Atsushi and Nobukuni, Yoshitaka and Fisher, David E. and Tachibana, Masayoshi", title = "Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "125-132", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00125" } @article {Simeoni:2000:0964-6906:133, author = "Simeoni, Silvia and Mancini, Michael A. and Stenoien, David L. and Marcelli, Marco and Weigel, Nancy L. and Zanisi, Mariarosa and Martini, Luciano and Poletti, Angelo", title = "Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract", journal = "Human Molecular Genetics", volume = "9", number = "1", year = "2000", pages = "133-144", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000001/art00133" }