Is DRPLA also linked to 14q?p8 Géraldine Cancel, Alexandra Dürr, Giovanni Stevanin, Hervé Chneiweiss, Charles Duyckaerts, Michel Serdaru, Bertrand de Toffol, Yves Agid
& Alexis Brice doi:10.1038/ng0194-8 References|PDF
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Unstable expansion of CAG repeat in hereditary dentatorubral−pallidoluysian atrophy (DRPLA)pp9 - 13 R. Koide, T. Ikeuchi, O. Onodera, H. Tanaka, S. Igarashi, K. Endo, H. Takahashi, R. Kondo, A. Ishikawa, T. Hayashi, M. Saito, A. Tomoda, T. Miike, H. Naito, F. Ikuta
& S. Tsuji doi:10.1038/ng0194-9 Abstract + references|PDF
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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12ppp14 - 18 S. Nagafuchi, H. Yanagisawa, K. Sato, T. Shirayama, E. Ohsaki, M. Bundo, T. Takeda, K. Tadokoro, I. Kondo, N. Murayama, Y. Tanaka, H. Kikushima, K. Umino, H. Kurosawa, T. Furukawa, K. Nihei, T. Inoue, A. Sano, O. Komure, M. Takahashi, T. Yoshizawa, I. Kanazawa
& M. Yamada doi:10.1038/ng0194-14 Abstract + references|PDF
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Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplificationpp19 - 23 Kristleifur Kristjansson, Samuel S. Chong, Ignatia B. Van den Veyver, Stephanie Subramanian, Michael C. Snabes
& Mark R. Hughes doi:10.1038/ng0194-19 Abstract + references|PDF
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A non−syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13qpp24 - 28 Parry Guilford, Saida Ben Arab, Stéphane Blanchard, Jacqueline Levilliers, Jean Weissenbach, Ali Belkahia
& Christine Petit doi:10.1038/ng0194-24 Abstract + references|PDF
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Genetic associations with human longevity at the APOE and ACE locipp29 - 32 François Schächter, Laurence Faure-Delanef, Frédérique Guénot, Hervé Rouger, Philippe Froguel, Laurence Lesueur-Ginot
& Daniel Cohen doi:10.1038/ng0194-29 Abstract + references|PDF
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Identification of an imprinted U2af binding protein related sequence on mouse chromosome 11 using the RLGS methodpp33 - 40 Y. Hayashizaki, H. Shibata, S. Hirotsune, H. Sugino, Y. Okazaki, N. Sasaki, K. Hirose, H. Imoto, H. Okuizumi, M. Muramatsu, H. Komatsubara, T. Shiroishi, K. Moriwaki, M. Katsuki, N. Hatano, H. Sasaki, T. Ueda, N. Mise, N. Takagi, C. Plass
& V.M. Chapman doi:10.1038/ng0194-33 Abstract + references|PDF
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Allele specificity of DNA replication timing in the Angelman/Prader−Willi syndrome imprinted chromosomal regionpp41 - 46 Joan H.M. Knoll, Sou-De Cheng
& Marc Lalande doi:10.1038/ng0194-41 Abstract + references|PDF
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Three autosomal dominant corneal dystrophies map to chromosome 5qpp47 - 51 Edwin M. Stone, William D. Mathers, George O.D. Rosenwasser, Edward J. Holland, Robert Folberg, Jay H. Krachmer, Brian E. Nichols, Peter D. Gorevic, Chris M. Taylor, Luan M. Streb, Jill A. Fishbaugh, Thomas E. Daley, Brian M. Sucheski
& Val C. Sheffield doi:10.1038/ng0194-47 Abstract + references|PDF
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A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genomepp52 - 56 Nicola J. Royle, Duncan M. Baird
& Alec J. Jeffreys doi:10.1038/ng0194-52 Abstract + references|PDF
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Direct isolation of polymorphic markers linked to a trait by genetically directed representational difference analysispp57 - 63 Nikolai A. Lisitsyn, Julia A. Segre, Kenro Kusumi, Natalia M. Lisitsyn, Joseph H. Nadeau, Wayne N. Frankel, Michael H. Wigler
& Eric S. Lander doi:10.1038/ng0194-57 Abstract + references|PDF
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Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndromepp64 - 69 Katariina Kainulainen, Leena Karttunen, Lea Puhakka, Lynn Sakai
& Leena Peltonen doi:10.1038/ng0194-64 Abstract + references|PDF
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Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTCpp70 - 74 Lois M. Mulligan, Charis Eng, Catherine S. Healey, David Clayton, John B.J. Kwok, Emily Gardner, Margaret A. Ponder, Andrea Frilling, Charles E. Jackson, Hendrik Lehnert, Hartmut P.H. Neumann, Stephen N. Thibodeau
& Bruce A.J. Ponder doi:10.1038/ng0194-70 Abstract + references|PDF
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Safety and efficacy of repetitive adenovirus−mediated transfer of CFTR cDNA to airway epithelia of primates and cotton ratspp75 - 83 Joseph Zabner, Deanna M. Petersen, Aurita P. Puga, Scott M. Graham, Larry A. Couture, Lynn D. Keyes, Mike J. Lukason, Judith A. St. George, Richard J. Gregory, Alan E. Smith
& Michael J. Welsh doi:10.1038/ng0194-75 Abstract + references|PDF
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A new bacteriophage P1−derived vector for the propagation of large human DNA fragmentspp84 - 89 Panayiotis A. loannou, Chris T. Amemiya, Jeffrey Garnes, Peter M. Kroisel, Hiroaki Shizuya, Chira Chen, Mark A. Batzer
& Pieter J. de Jong doi:10.1038/ng0194-84 Abstract + references|PDF
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Gene targeting in normal somatic cells: inactivation of the interferon− receptor in myoblastspp90 - 97 Maria L. Arbonés, Harry A. Austin, Daniel J. Capon
& Gary Greenburg doi:10.1038/ng0194-90 Abstract + references|PDF
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Isolation of genes from complex sources of mammalian genomic DNA using exon amplificationpp98 - 105 Deanna M. Church, Christy J. Stotler, Joni L. Rutter, Jill R. Murrell, James A. Trofatter
& Alan J. Buckler doi:10.1038/ng0194-98 Abstract + references|PDF
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Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancerpp106 - 110 D. Torchard, C. Blanchet-Bardon, O. Serova, L. Langbein, S. Narod, N. Janin, A.F. Goguel, A. Bernheim, W.W. Franke, G.M. Lenoir
& J. Feunteun doi:10.1038/ng0194-106 Abstract + references|PDF
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receptor in myoblasts
