P1148A in fibrillin-1 is not a mutation anymorep12 Mei Wang, Kurt R. Mathews, Kiyoshi Imaizumi, Soraya Beiraghi, Bruce Blumberg, Maren Scheuner, John M. Graham Jr.
& Maurice Godfrey doi:10.1038/ng0197-12 References|PDF
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PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?pp13 - 14 Eva Nelis, Bengt Holmberg, Rolf Adolfsson, Gösta Holmgren
& Christine Van Broeckhoven doi:10.1038/ng0197-13 References|PDF
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A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2pp14 - 15 Suman J. Ramus, Lori S. Friedman, Simon A. Gayther, Bruce A.J. Ponder, Lynda G. Bobrow, Marco van der Looji, Janos Papp
& Edith Olah doi:10.1038/ng0197-14 References|PDF
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Conference consternationp15 Newton E. Morton doi:10.1038/ng0197-15 PDF
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Ethical issues in genetic research: disclosure and informed consentpp16 - 20 Philip R. Reilly, Mark R Boshar
& Steven H. Holtzman doi:10.1038/ng0197-16 Abstract + references|PDF
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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familypp21 - 29 Quan Yi Li, Ruth A. Newbury-Ecob, Jonathan A. Terrett, David I. Wilson, Andrew R.J. Curtis, Cheong Ho Yi, Tom Gebuhr, Philip J. Bullen, Stephen C. Robson, Tom Strachan, Damien Bonnet, Stanislas Lyonnet, Ian D. Young, J. Alexander Raeburn, Alan J. Buckler, David J. Law
& J. David Brook doi:10.1038/ng0197-21 Abstract + references|PDF
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Mutations in human cause limb and cardiac malformation in Holt-Oram syndromepp30 - 35 Craig T. Basson1, David R. Bachinsky, Robert C. Lin, Tatjana Levi, Jacob A. Elkins, Johann Soults, David Grayzel, Elena Kroumpouzou, Thomas A. Traill, Janine Leblanc-Straceski, Beatrice Renault, Raju Kucherlapati, Seidman J.G
& Christine E. Seidman doi:10.1038/ng0197-30 Abstract + references|PDF
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Mutations in TWIST, a basic helix−loop−helix transcription factor, in Saethre-Chotzen syndromepp36 - 41 Timothy D. Howard, William A. Paznekas, Eric D. Green, Lydia C. Chiang, Nancy Ma, Rosa Isela Ortiz De Luna, Costanza Garcia Delgado, Mario Gonzalez-Ramos, Antoine D. Kline
& Ethylin Wang Jabs doi:10.1038/ng0197-36 Abstract + references|PDF
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Mutations of the TWIST gene in the Saethre-Chotzene syndromepp42 - 46 Vincent El Ghouzzi, Martine Le Merrer, Fabienne Perrin-Schmitt, Elisabeth Lajeunie, Paule Benit, Dominique Renier, Patrice Bourgeois, Anne-Laure Bolcato-Bellemin, Arnold Munnich
& Jacky Bonaventure doi:10.1038/ng0197-42 Abstract + references|PDF
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Comparative anchor tagged sequences (CATS) for integrative mapping of mammalian genomespp47 - 56 Leslie A. Lyons, Thomas F. Laughlin, Neal G. Copeland, Nancy A. Jenkins, James E. Womack
& Stephen J. O'Brien doi:10.1038/ng0197-47 Abstract + references|PDF
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The mitochondrial genome of Arabidopsis thaliana contains 57 genes in 366,924 nucleotidespp57 - 61 Michael Unseld, Joachim R. Marienfeld, Petra Brandt
& Axel Brennicke doi:10.1038/ng0197-57 Abstract + references|PDF
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channelpp62 - 69 Olga Zhuchenko, Jennifer Bailey, Penelope Bonnen, Tetsuo Ashizawa, David W. Stockton, Chris Amos, William B. Dobyns, S.H. Subramony, Huda Y. Zoghbi
& Cheng Chi Lee doi:10.1038/ng0197-62 Abstract + references|PDF
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UBE3A/E6-AP mutations cause Angelman syndromepp70 - 73 Tatsuya Kishino, Marc Lalande
& Joseph Wagstaff doi:10.1038/ng0197-70 Abstract + references|PDF
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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromepp74 - 77 Toshinobu Matsuura, James S. Sutcliffe, Ping Fang, Robert-Jan Galjaard, Yong-hui Jiang, Claudia S. Benton, Johanna M. Rommens
& Arthur L. Beaudet doi:10.1038/ng0197-74 Abstract + references|PDF
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AP2 inhibits cancer cell growth and activates p21WAF1/CIP1 expressionpp78 - 82 Yi-Xin Zeng, Kumaravel Somasundaram
& Wafik S. El-Deiry doi:10.1038/ng0197-78 Abstract + references|PDF
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Delayed early embryonic lethality following disruption of the murine cyclin A2 genepp83 - 86 Martin Murphy, Marie-Georges Stinnakre, Catherine Senamaud-Beaufort, Nicola J. Winston, Claire Sweeney, Michal Kubelka, Mark Carrington, Christian Bréchot
& Joëlle Sobczak-Thépot doi:10.1038/ng0197-83 Abstract + references|PDF
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Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysispp87 - 90 Akseli Hemminki, Ian Tomlinson, David Markie, Heikki Järvinen, Pertti Sistonen, Anna-Maria Björkqvist, Sakari Knuutila, Reijo Salovaara, Walter Bodmer, Darryl Shibata, Albert de la Chapelle
& Lauri A. Aaltonen doi:10.1038/ng0197-87 Abstract + references|PDF
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Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactionspp91 - 94 Catherine B. Kunst, Eva Mezey, Michael J. Brownstein
& David Patterson doi:10.1038/ng0197-91 Abstract + references|PDF
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Deregulation of the platelet-derived growth factor -chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastomapp95 - 98 Marie-Pierre Simon, Florence Pedeutour, Nicolas Sirvent, Josiane Grosgeorge, Fabiola Minoletti, Jean-Michel Coindre, Marie-José Terrier-Lacombe, Nils Mandahl, Randall Craver, Nikolaus Blin, Gabriella Sozzi, Claude Turc-Carel, Kevin P. O'Brien, Darek Kedra, Ingegerd Fransson, Cécile Guilbaud
& Jan P. Dumanski doi:10.1038/ng0197-95 Abstract + references|PDF
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Low mutation rates of microsatellite loci in Drosophila melanogasterpp99 - 102 Malcolm D. Schug, Trudy F.C. Mackay
& Charles F. Aquadro doi:10.1038/ng0197-99 Abstract + references|PDF
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Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 genepp103 - 105 Simon A. Gayther, Jonathon Mangion, Paul Russell, Sheila Seal, Rita Barfoot, Bruce A.J. Ponder, Michael R. Stratton
& Douglas Easton doi:10.1038/ng0197-103 Abstract + references|PDF
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Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequencepp106 - 110 Doris A. Stoffers, Noah T. Zinkin, Violeta Stanojevic, William L. Clarke
& Joel F. Habener doi:10.1038/ng0197-106 Abstract + references|PDF
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1A-voltage-dependent calcium channel
-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma
