Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCRpp11 - 12 Amalia Martínez-Mir, Eva Paloma, Rando Allikmets, Carmen Ayuso, Teresa del Río, Michael Dean, Lluísa Vilageliu, Roser Gonzàlez-Duarte
& Susana Balcells doi:10.1038/ng0198-11 References|PDF
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PTEN germ-line mutations in juvenile polyposis colipp12 - 14 Sylviane Olschwang, Olga M. Serova-Sinilnikova
& Gilbert M Lenoir doi:10.1038/ng0198-12 References|PDF
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Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadismpp14 - 15 Lawrence C. Layman, David P. Cohen, Mei Jin, Jun Xie, Zhu Li, Richard H. Reindollar, Shahla Bolbolan, David P. Bick, Richard R. Sherins, L. Wayne Duck, Lois C. Musgrove, Jeffrey C. Sellers
& Jimmy D. Neill doi:10.1038/ng0198-14 References|PDF
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Loss of WT1 function leads to ectopic myogenesis in Wilms' tumourpp15 - 17 Kiyoshi Miyagawa, Jill Kent, Adrian Moore, Jean-Paul Charlieu, Melissa H. Little, Kathleen A. Williamson, Anna Kelsey, Keith W. Brown, Shabbir Hassam, Jakob Briner, Yasuhide Hayashi, Hisamaru Hirai, Yoshio Yazaki, Veronica van Heyningen
& Nicholas D. Hastie doi:10.1038/ng0198-15 References|PDF
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No female embryonic lethality in mice nullizygous for Msh2 and p53p17 Neil J. Toft, Mark J. Arends, Andrew H. Wyllie
& Alan R. Clarke doi:10.1038/ng0198-17 References|PDF
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Hippocratic or hypocritic: Birth pangs of an ethical codep18 Newton E. Morton doi:10.1038/ng0198-18 References|PDF
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Experimental strategies for the genetic dissection of complex traits in animal modelspp19 - 24 Ariel Darvasi doi:10.1038/ng0198-19 References|PDF
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornspp25 - 29 Nanda A. Singh, Carole Charlier, Dora Stauffer, Barbara R. DuPont, Robin J. Leach, Roberta Melis, Gabriel M. Ronen, Ingrid Bjerre, Thomas Quattlebaum, Jerome V. Murphy, Malcolm L. McHarg, David Gagnon, Teodoro O. Rosales, Andy Peiffer, V. Elving Anderson
& Mark Leppert doi:10.1038/ng0198-25 Abstract + references|PDF
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Neocentromere activity of structurally acentric mini-chromosomes in Drosophilapp30 - 38 Byron C. Williams, Terence D. Murphy, Michael L. Goldberg
& Gary H. Karpen doi:10.1038/ng0198-30 Abstract + references|PDF
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Peutz-Jeghers syndrome is caused by mutations in a novel serine
threoninekinasepp38 - 43 Dieter E. Jenne, Heike Reomann, Jun-ichi Nezu, Waltraut Friedel, Steffan Loff., Reinhard Jeschke, Oliver Müller, Walter Back
& Michael Zimmer doi:10.1038/ng0198-38 Abstract + references|PDF
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Association of a human G-protein 3 subunit variant with hypertensionpp45 - 48 Winfried Siffert, Dieter Rosskopf, Gerlinde Siffert, Stefan Busch, Albrecht Moritz, Raimund Erbel, Arya M. Sharma, Eberhard Ritz, H.-Erich Wichmann, Karl H. Jakobs
& Bernhard Horsthemke doi:10.1038/ng0198-45 Abstract + references|PDF
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An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemiapp49 - 52 Adrian Wiestner, Ronald J. Schlemper, Anthonie P.C. van der Maas
& Radek C. Skoda doi:10.1038/ng0198-49 Abstract + references|PDF
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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy familypp53 - 55 Carole Charlier, Nanda A. Singh, Stephen G. Ryan, Tracey B. Lewis, Bonnie E. Reus, Robin J. Leach
& Mark Leppert doi:10.1038/ng0198-53 Abstract + references|PDF
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Repeat-induced gene silencing in mammalspp56 - 59 David Garrick, Steven Fiering, David I.K. Martin
& Emma Whitelaw doi:10.1038/ng0198-56 Abstract + references|PDF
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SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse modelpp60 - 64 E. Michelle Southard-Smith, Lidia Kos
& William J Pavan doi:10.1038/ng0198-60 Abstract + references|PDF
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Telomerase activation by hTRT in human normal fibroblasts and hepatocellular carcinomas pp65 - 68 Jun-ichi Nakayama, Hidetoshi Tahara, Eiji Tahara, Motoki Saito, Kaori Ito, Hideo Nakamura, Toshio Nakanishi, Eiichi Nakanishi, Toshinori Ide
& Fuyuki Ishikawa doi:10.1038/ng0198-65 Abstract + references|PDF
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A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementiapp69 - 71 María Jesus Bullido, María Jesús Artiga, María Recuero, Isabel Sastre, Miguel Angel García, Jesús Aldudo, Corinne Lendon, Sang Woo Han, John C. Morris, Anna Frank, Jesús Vázquez, Alison Goate
& Fernando Valdivieso doi:10.1038/ng0198-69 Abstract + references|PDF
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Rapid cloning of expanded trinucleotide repeat sequences from genomic DNApp72 - 75 Michael D. Koob, Kellie A. Benzow, Thomas D. Bird, John W. Day, Melinda L. Moseley
& Laura P.W. Ranum doi:10.1038/ng0198-72 Abstract + references|PDF
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Short telomeres on human chromosome 17ppp76 - 80 Uwe M. Martens, J.Mark J.M. Zijlmans, Steven S.S. Poon, Wieslawa Dragowska, Jane Yui, Elizabeth A. Chavez, Rabab K. Ward
& Peter M. Lansdorp doi:10.1038/ng0198-76 Abstract + references|PDF
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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromepp81 - 83 Jürgen Kohlhase, Annegret Wischermann, Herbert Reichenbach, Ursula Froster
& Wolfgang Engel doi:10.1038/ng0198-81 Abstract + references|PDF
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FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndromepp84 - 87 Sheng Xiao, Srinivasa R. Nalabolu, Jon C. Aster, Junli Ma, Lynne Abruzzo, Elaine S. Jaffe, Richard Stone, Sherman M. Weissman, Thomas J. Hudson
& Jonathan A. Fletcher doi:10.1038/ng0198-84 Abstract + references|PDF
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3 subunit variant with hypertension
