Mutant dynactin in motor neuron diseasepp455 - 456 Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte, Erika L.F. Holzbaur, Mariko Tokito, Eric Mann, Mary Kay Floeter, Kimberly Bidus, Dennis Drayna, Shin J. Oh, Robert H. Brown Jr, Christy L. Ludlow
& Kenneth H. Fischbeck Published online: 10 March 2003|doi:10.1038/ng1123 Abstract|Full text|PDF
(285K)
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Quality and completeness of SNP databasespp457 - 458 David E. Reich, Stacey B. Gabriel
& David Altshuler Published online: 24 March 2003|doi:10.1038/ng1133 Abstract|Full text|PDF
(97K)
|Supplementary Information
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromepp459 - 461 Jeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre Ray, Michel Simonneau, Michel Vekemans, Arnold Munnich, Claude Gaultier
& Stanislas Lyonnet Published online: 17 March 2003|doi:10.1038/ng1130 Abstract|Full text|PDF
(966K)
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Mutations in SOX2 cause anophthalmiapp462 - 463 Judy Fantes, Nicola K. Ragge, Sally-Ann Lynch, Niolette I. McGill, J. Richard O. Collin, Patricia N. Howard-Peebles, Caroline Hayward, Anthony J. Vivian, Kathy Williamson, Veronica van Heyningen
& David R. FitzPatrick Published online: 03 March 2003|doi:10.1038/ng1120 Abstract|Full text|PDF
(216K)
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromepp463 - 465 Catherine Dodé, Jacqueline Levilliers, Jean-Michel Dupont, Anne De Paepe, Nathalie Le Dû, Nadia Soussi-Yanicostas, Roney S. Coimbra, Sedigheh Delmaghani, Sylvie Compain-Nouaille, Françoise Baverel, Christophe Pêcheux, Dominique Le Tessier, Corinne Cruaud, Marc Delpech, Frank Speleman, Stefan Vermeulen, Andrea Amalfitano, Yvan Bachelot, Philippe Bouchard, Sylvie Cabrol, Jean-Claude Carel, Henriette Delemarre-van de Waal, Barbara Goulet-Salmon, Marie-Laure Kottler, Odile Richard, Franco Sanchez-Franco, Robert Saura, Jacques Young, Christine Petit
& Jean-Pierre Hardelin Published online: 10 March 2003|doi:10.1038/ng1122 Abstract|Full text|PDF
(84K)
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Mutations in RAI1 associated with Smith−Magenis syndromepp466 - 468 Rebecca E. Slager, Tiffany Lynn Newton, Christopher N. Vlangos, Brenda Finucane
& Sarah H. Elsea Published online: 24 March 2003|doi:10.1038/ng1126 Abstract|Full text|PDF
(263K)
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In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loadingpp469 - 475 Julian C. Knight, Brendan J. Keating, Kirk A. Rockett
& Dominic P. Kwiatkowski Published online: 10 March 2003|doi:10.1038/ng1124 Abstract|Full text|PDF
(723K)
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Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivitypp477 - 485 Christopher J. Winrow, Matthew L. Hemming, Duane M. Allen, Gary B. Quistad, John E. Casida
& Carrolee Barlow Published online: 17 March 2003|doi:10.1038/ng1131 Abstract|Full text|PDF
(2,668K)
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humanspp487 - 491 Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland-Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan J. Kenwrick, Chong A. Kim, Eva Morava, Ruth Newbury-Ecob, Karen H. Ørstavik, Oliver W.J. Quarrell, Charles E. Schwartz, Deborah J. Shears, Mohnish Suri, John Kendrick-Jones The OPD-spectrum Disorders Clinical Collaborative Group: C. Bacino, K. Becker, J. Clayton-Smith, M. Giovannucci-Uzielli, D. Goh, D. Grange, M. Krajewska-Welasek, D. Lacombe, C. Morris, S. Odent, R. Savarirayan, R. Stratton, A. Superti-Furga, A. Verloes, J. Vigneron, W. Wilcox, R. Winter
& K. Young
& Andrew O.M. Wilkie Published online: 03 March 2003|doi:10.1038/ng1119 Abstract|Full text|PDF
(662K)
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Erosion of the telomeric single-strand overhang at replicative senescencepp492 - 496 Sheila A. Stewart, Ittai Ben-Porath, Vincent J. Carey, Benjamin F. O'Connor, William C. Hahn
& Robert A. Weinberg Published online: 24 March 2003|doi:10.1038/ng1127 Abstract|Full text|PDF
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A splicing mutation affecting expression of ataxia−telangiectasia and Rad3−related protein (ATR) results in Seckel syndromepp497 - 501 Mark O'Driscoll, Victor L. Ruiz-Perez, C. Geoffrey Woods, Penny A. Jeggo
& Judith A. Goodship Published online: 17 March 2003|doi:10.1038/ng1129 Abstract|Full text|PDF
(415K)
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Genome imprinting regulated by the mouse Polycomb group protein Eedpp502 - 507 Jesse Mager, Nathan D. Montgomery, Fernando Pardo-Manuel de Villena
& Terry Magnuson Published online: 10 March 2003|doi:10.1038/ng1125 Abstract|Full text|PDF
(1,559K)
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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesispp508 - 513 Michael K. Cooper, Christopher A. Wassif, Patrycja A. Krakowiak, Jussi Taipale, Ruoyu Gong, Richard I. Kelley, Forbes D. Porter
& Philip A. Beachy Published online: 24 March 2003|doi:10.1038/ng1134 Abstract|Full text|PDF
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Transcription-associated mutational asymmetry in mammalian evolutionpp514 - 517 Phil Green, Brent Ewing, Webb Miller, Pamela J. Thomas, NISC Comparative Sequencing Program
& Eric D. Green Published online: 03 March 2003|doi:10.1038/ng1103 Abstract|Full text|PDF
(92K)
|Supplementary Information
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humanspp518 - 521 Christopher S. Carlson, Michael A. Eberle, Mark J. Rieder, Joshua D. Smith, Leonid Kruglyak
& Deborah A. Nickerson Published online: 24 March 2003|doi:10.1038/ng1128 Abstract|Full text|PDF
(168K)
|Supplementary Information
Sir3p phosphorylation by the Slt2p pathway effects redistribution of silencing function and shortened lifespanpp522 - 526 Alo Ray, Ronald E. Hector, Nilanjan Roy, Jee-Hyeon Song, Kathleen L. Berkner
& Kurt W. Runge Published online: 17 March 2003|doi:10.1038/ng1132 Abstract|Full text|PDF
(538K)
|Supplementary Information
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsiespp527 - 532 Karsten Haug, Maike Warnstedt, Alexi K. Alekov, Thomas Sander, Alfredo Ramírez, Barbara Poser, Snezana Maljevic, Simon Hebeisen, Christian Kubisch, Johannes Rebstock, Steve Horvath, Kerstin Hallmann, Joern S. Dullinger, Birgit Rau, Fritz Haverkamp, Stefan Beyenburg, Herbert Schulz, Dieter Janz, Bernd Giese, Gerhard Müller-Newen, Peter Propping, Christian E. Elger, Christoph Fahlke, Holger Lerche
& Armin Heils Published online: 03 March 2003|doi:10.1038/ng1121 Abstract|Full text|PDF
(743K)
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Mice deficient in protein tyrosine phosphatase receptor
type Z are resistant to gastric ulcer induction by VacA of Helicobacter pylorip533 A Fujikawa, D Shirasaka, S Yamamoto, H Ota, K Yahiro, M Fukada, T Shintani, A Wada, N Aoyama, T Hirayama, H Fukamachi
& M Noda doi:10.1038/ng0403-533 Full text|PDF
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