Nemaline myopathy mechanismsp8 Fernando C. Reinach doi:10.1038/ng0595-8a References|PDF
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Linkage findings in bipolar disorderpp8 - 9 Hugh Gurling, Ciaran Smyth, Gursharan Kalsi, Eamon Moloney, Larry Rifkin, Jane O'Neill, Patrice Murphy, David Curtis, Hannes Petursson
& Jon Brynjolfsson doi:10.1038/ng0595-8b References|PDF
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Single−minded and Down syndrome?pp9 - 10 Haiming Chen, Roman Chrast, Colette Rossier, Arnaud Gos, Stylianos E. Antonarakis, Jun Kudoh, Akiko Yamaki, Nobuaki Shindoh, Hideto Maeda, Shinsei Minoshima
& Nobuyoshi Shimizu doi:10.1038/ng0595-9 References|PDF
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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1pp11 - 12 Francis Rousseau, Pascale Saugier, Martine Le Merrer, Arnold Munnich, Anne-Lise Delezoide, Pierre Maroteaux, Jacky Bonaventure, Françoise Narcy
& Marek Sanak doi:10.1038/ng0595-11 References|PDF
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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosomepp13 - 19 Maria T. Bassi, M. Vittoria Schiaffino, Alessandra Renieri, Filomena De Nigris, Lucia Galli, Mirella Bruttini, Marinella Gebbia, Arthur A.B. Bergen, Richard A. Lewis
& Andrea Ballabio doi:10.1038/ng0595-13 Abstract + references|PDF
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CpNpG methylation in mammalian cellspp20 - 27 Susan J. Clark, Janet Harrison
& Marianne Frommer doi:10.1038/ng0595-20 Abstract + references|PDF
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A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosispp28 - 34 Paul W.A. Reymer, Eric Gagné, Bjorn E. Groenemeyer, Hanfang Zhang, Ian Forsyth, Hans Jansen, Jaap C. Seidell, Daan Kromhout, Kong E. Lie, Johannes Kastelein
& Michael R. Hayden doi:10.1038/ng0595-28 Abstract + references|PDF
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Loss of function effect of RET mutations causing Hirschsprung diseasepp35 - 40 Barbara Pasini, Maria Grazia Borrello, Angela Greco, Italia Bongarzone, Yin Luo, Piera Mondellini, Luisella Alberti, Claudia Miranda, Elena Arighi, Renata Bocciardi, Marco Seri, Virginia Barone, Maria Teresa Radice, Giovanni Romeo
& Marco A. Pierotti doi:10.1038/ng0595-35 Abstract + references|PDF
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Evidence for a susceptibility locus for schizophrenia on chromosome 6pter−p22pp41 - 46 Shengbiao Wang, Cui-e Sun, Cynthia A. Walczak, Janet S. Ziegle, Barbara R. Kipps, Lynn R. Goldin
& Scott R. Diehl doi:10.1038/ng0595-41 Abstract + references|PDF
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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation terminationpp47 - 55 José Antonio Enriquez, Anne Chomyn
& Giuseppe Attardi doi:10.1038/ng0595-47 Abstract + references|PDF
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Localization of a gene for partial epilepsy to chromosome 10qpp56 - 60 Ruth Ottman, Neil Risch, W. Allen Hauser, Timothy A. Pedley, Joseph H. Lee, Christie Barker-Cummings, Anita Lustenberger, Keith J. Nagle, Kyusang S. Lee, Mark L. Scheuer, Michael Neystat, Mervyn Susser
& Kirk C. Wilhelmsen doi:10.1038/ng0595-56 Abstract + references|PDF
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Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutasepp61 - 66 Peter M. Andersen, Peter Nilsson, Veli Ala-Hurula, Marja-Leena Keränen, Ilkka Tarvainen, Tuula Haltia, Lotta Nilsson, Michael Binzer, Lars Forsgren
& Stefan L. Marklund doi:10.1038/ng0595-61 Abstract + references|PDF
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Comparative sequence analysis of the human and pufferfish Huntington's disease genespp67 - 76 Sarah Baxendale, Sarah Abdulla, Greg Elgar, David Buck, Mary Berks, Gos Micklem, Richard Durbin, Gill Bates, Sydney Brenner, Stephan Beck
& Hans Lehrach doi:10.1038/ng0595-67 Abstract + references|PDF
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The reeler gene encodes a protein with an EGF−like motif expressed by pioneer neuronspp77 - 83 S. Hirotsune, T. Takahara, N. Sasaki, K. Hirose, A. Yoshiki, T. Ohashi, M. Kusakabe, Y. Murakami, M. Muramatsu, S. Watanabe, K. Nakao, M. Katsuki
& Y. Hayashizaki doi:10.1038/ng0595-77 Abstract + references|PDF
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The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12−p21.1pp84 - 88 A. Benomar, L. Krols, G. Stevanin, G. Cancel, E. LeGuern, G. David, H. Ouhabi, J.-J. Martin, A. Dürr, A. Zaim, N. Ravisé, C. Busque, C. Penet, N. Van Regemorter, J. Weissenbach, M. Yahyaoui, T. Chkili, Y. Agid, C. Van Broeckhoven
& A. Brice doi:10.1038/ng0595-84 Abstract + references|PDF
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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3ppp89 - 93 Launce G. Gouw, Craig D. Kaplan, John H. Haines, Kathleen B. Digre, S. Lane Rutledge, Antoni Matilla, Mark Leppert, Huda Y. Zoghbi
& Louis J. Ptácek doi:10.1038/ng0595-89 Abstract + references|PDF
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Expression analysis of the ataxin−1 protein in tissues from normal and spinocerebellar ataxia type 1 individualspp94 - 98 Antonio Servadio, Beena Koshy, Dawna Armstrong, Barbara Antalffy, Harry T. Orr
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Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated formpp104 - 110 Yvon Trottier, Didier Devys, Georges Imbert, Frédéric Saudou, Isabelle An, Yves Lutz, Chantal Weber, Yves Agid, Etienne C. Hirsch
& Jean-Louis Mandel doi:10.1038/ng0595-104 Abstract + references|PDF
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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductasepp111 - 113 P. Frosst, H.J. Blom, R. Milos, P. Goyette, C.A. Sheppard, R.G. Matthews, G.J.H. Boers, M. den Heijer, L.A.J. Kluijtmans, L.P. van den Heuve
& R. Rozen doi:10.1038/ng0595-111 Abstract + references|PDF
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Mutations associated with familial melanoma impair p16INK4 functionpp114 - 116 Koustubh Ranade, Christopher J. Hussussian, Robert S. Sikorski, Harold E. Varmus, Alisa M. Goldstein, Margaret A. Tucker, Manuel Serrano, Gregory J. Hannon, David Beach
& Nicholas C. Dracopoli doi:10.1038/ng0595-114 Abstract + references|PDF
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Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2pp117 - 118 H.A. Phillips, I.E. Scheffer, S.F. Berkovic, G.E. Hollway, G.R. Sutherland
& J.C. Mulley doi:10.1038/ng0595-117 Abstract + references|PDF
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Targeted disruption of the mouse factor VIII gene produces a model of haemophilia App119 - 121 L. Bi, A.M. Lawler, S.E. Antonarakis, K.A. High, J.D. Gearhart
& H.H. Kazazian Jr. doi:10.1038/ng0595-119 Abstract + references|PDF
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