Heterozygote advantage for HLA class-II type in hepatitis B virus infectionpp11 - 12 Mark R. Thursz, Howard C. Thomas, Brian M. Greenwood
& Adrian V.S. Hill doi:10.1038/ng0997-11 References|PDF
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Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brainpp12 - 13 Thanh H. Vu
& Andrew R. Hoffman doi:10.1038/ng0997-12 References|PDF
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The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brainpp14 - 15 Claire Rougeulle, Heather Glatt
& Marc Lalande doi:10.1038/ng0997-14 References|PDF
(317K)
Stargardt's ABCR is localized to the disc membrane of retinal rod outer segmentspp15 - 16 Hui Sun
& Jeremy Nathans doi:10.1038/ng0997-15 References|PDF
(323K)
What is expanded in progressive myoclonus epilepsy?p17 Maria D. Lalioti, Hamish S. Scott
& Stylianos E. Antonarakis doi:10.1038/ng0997-17 References|PDF
(166K)
Mutations in CDMP1 cause autosomal dominant brachydactyly type Cpp18 - 19 Alexander Polinkovsky, Nathaniel H. Robin, J. Terrig Thomas, Mira Irons, Audrey Lynn, Frances R. Goodman, William Reardon, Sarina G. Kant, Han G. Brunner, Ineke van der Burgt, David Chitayat, Julie McGaughran, Dian Donnai, Frank P. Luyten
& Matthew L. Warman doi:10.1038/ng0997-18 References|PDF
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Ethics and genetics in China: an inside storyp20 Xin Mao doi:10.1038/ng0997-20 References|PDF
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DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3−26.1 is deleted in malignant brain tumourspp32 - 39 Jan Mollenhauer, Stefan Wiemann, Wolfram Scheurlen, Bernhard Korn, Yutaka Hayashi, Klaus K. Wilgenbus, Andreas von Deimling
& Annemarie Poustka doi:10.1038/ng0997-32 Abstract + references|PDF
(944K)
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinpp40 - 48 Laurie J. Ozelius, Jeffrey W. Hewett, Curtis E. Page, Susan B. Bressman, Patricia L. Kramer, Christo Shalish, Deborah de Leon, Mitchell F. Brin, Deborah Raymond, David P. Corey, Stanley Fahn, Neil J. Risch, Alan J. Buckler, James F. Gusella
& Xandra O. Breakefield doi:10.1038/ng0997-40 Abstract + references|PDF
(1,163K)
A mouse model for Zellweger syndromepp49 - 57 Myriam Baes, Pierre Gressens, Eveline Baumgart, Peter Carmeliet, Minne Casteels, Marc Fransen, Philippe Evrard, Dariush Fahimi, Peter E. Declercq, Désiré Collen, Paul P. van Veldhoven
& Guy P. Mannaerts doi:10.1038/ng0997-49 Abstract + references|PDF
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Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1pp58 - 64 J. Terrig Thomas, Michael W. Kilpatrick, Kerning Lin, Ludwig Erlacher, Peter Lembessis, Teresa Costa, Petros Tsipouras
& Frank P. Luyten doi:10.1038/ng0997-58 Abstract + references|PDF
(1,040K)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionpp65 - 70 Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Gaël Yvert, Géraldine Cancel, Chantal Weber, Georges Imbert, Frédéric Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti, Ali Benomar, Nick Wood, Merle Ruberg, Yves Agid, Jean-Louis Mandel
& Alexis Brice doi:10.1038/ng0997-65 Abstract + references|PDF
(679K)
A deletion in the bovine myostatin gene causes the double−muscled phenotype in cattlepp71 - 74 Luc Grobet, Luis José Royo Martin, Dominique Poncelet, Dimitri Pirottin, Benoit Brouwers, Juliette Riquet, Andreina Schoeberlein, Susana Dunner, François Ménissier, Julio Massabanda, Ruedi Fries, Roger Hanset
& Michel Georges doi:10.1038/ng0997-71 Abstract + references|PDF
(638K)
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neuronspp75 - 78 Urs Albrecht, James S. Sutcliffe, Bruce M. Cattanach, Colin V. Beechey, Dawna Armstrong, Gregor Eichele
& Arthur L. Beaudet doi:10.1038/ng0997-75 Abstract + references|PDF
(576K)
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APCpp79 - 83 Steven J. Laken, Gloria M. Petersen, Stephen B. Gruber, Carole Oddoux, Harry Ostrer, Francis M. Giardiello, Stanley R. Hamilton, Heather Hampel, Arnold Markowitz, David Klimstra, Suresh Jhanwar, Sidney Winawer, Kenneth Offit, Michael C. Luce, Kenneth W. Kinzler
& Bert Vogelstein doi:10.1038/ng0997-79 Abstract + references|PDF
(591K)
Mapping of a familial essential tremor gene, FET1, to chromosome 3q13pp84 - 87 Jeffrey R. Gulcher, Þorlákur Jónsson, Augustine Kong, Kristleifur Kristjánsson, Michael L. Frigge, Ari Kárason, Ingibjörg E. Einarsdóttir, Hreinn Stefánsson, Anna S. Einarsdóttir, Sigrún Sigurdardttir, Sigurur Baldursson, Sóley Björnsdóttir, Soffía M. Hrafnkelsdóttir, Finnbogi Jakobsson, John Benedickz
& Kári Stefánsson doi:10.1038/ng0997-84 Abstract + references|PDF
(359K)
Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesispp88 - 91 Robert T. Cormier, Karen H. Hong, Richard B. Halberg, Trevor L. Hawkins, Paul Richardson, Rita Mulherkar, William F. Dove
& Eric S. Lander doi:10.1038/ng0997-88 Abstract + references|PDF
(574K)
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparingpp92 - 95 Stephen G. Ryan, Phillip F. Chance, Chang-Hua Zou, Nancy B. Spinner, Jeffrey A. Golden
& Susan Smietana doi:10.1038/ng0997-92 Abstract + references|PDF
(422K)
Clustering of missense mutations in the ataxia-telanglectasia gene in a sporadic T-cell leukaemiapp96 - 99 Igor Voechovský, Liping Luo, Martin J.S. Dyer, Daniel Catovsky, Peter L. Amlot, John C. Yaxley, Letizia Foroni, Lennart Hammarström, A. David B. Webster
& Martin A.R. Yuille doi:10.1038/ng0997-96 Abstract + references|PDF
(599K)
The Werner syndrome protein is a DNA helicasepp100 - 103 Matthew D. Gray, Jiang-Cheng Shen, Ashwini S. Kamath-Loeb, A. Blank, Bryce L. Sopher, George M. Martin, Junko Oshima
& Lawrence A. Loeb doi:10.1038/ng0997-100 Abstract + references|PDF
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Tenascin−X deficiency is associated with Ehlers−Danlos syndromepp104 - 108 Grant H. Burch, Yan Gong, Wenhui Liu, Robert W. Dettman, Cynthia J. Curry, Lynne Smith, Walter L. Miller
& James Bristow doi:10.1038/ng0997-104 Abstract + references|PDF
(855K)
Fusion of retinoic acid receptor to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemiapp109 - 113 Richard A. Wells, Charles Catzavelos
& Suzanne Kamel-Reid doi:10.1038/ng0997-109 Abstract + references|PDF
(696K)
Female embryonic lethality in mice nullizygous for both Msh2 and p53pp114 - 118 Aaron Cranston, Tina Bocker, Armin Reitmair, Juan Palazzo, Teresa Wilson, Tak Mak
& Richard Fishel doi:10.1038/ng0997-114 Abstract + references|PDF
(736K)
Reverse genetics by chemical mutagenesis in Caenorhabditis eleganspp119 - 121 Gert Jansen, Esther Hazendonk, Karen L. Thijssen
& Ronald H.A. Plasterk doi:10.1038/ng0997-119 Abstract + references|PDF
(338K)
Corrigendum: Congenital hypothyroidism caused by a mutation in the Na+/I- symporterp122 doi:10.1038/ng0997-122a PDF
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Corrigendum: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyp122 doi:10.1038/ng0997-122b PDF
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ttir, Sigur
echovský, Liping Luo, Martin J.S. Dyer, Daniel Catovsky, Peter L. Amlot, John C. Yaxley, Letizia Foroni, Lennart Hammarström, A. David B. Webster
& Martin A.R. Yuille
to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia
