A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humanspp125 - 126 John C. Achermann, Masafumi Ito, Mika Ito, Peter C. Hindmarsh
& J. Larry Jameson doi:10.1038/9629 Full text|PDF
(216K)
Cloning of male mice from adult tail-tip cellspp127 - 128 Teruhiko Wakayama
& Ryuzo Yanagimachi doi:10.1038/9632 Full text|PDF
(148K)
Detection of a cystic fibrosis modifier locus for meconium ileus on human
chromosome 19q13pp128 - 129 Julian Zielenski, Mary Corey, Richard Rozmahel, Danuta Markiewicz, Isabel Aznarez, Teresa Casals, Sara Larriba, Bernard Mercier, Garry R. Cutting, Alice Krebsova, Milan Macek Jr, Elinor Langfelder-Schwind, Bruce C. Marshall, J. DeCelie-Germana, Mirreille Claustres, Ana Palacio, Jerzy Bal, Aleksandra Nowakowska, Claude Ferec, Xavier Estivill, Peter Durie
& Lap-Chee Tsui doi:10.1038/9635 Full text|PDF
(66K)
An estimated frequency of endogenous insertional mutations in humansp130 Haig H. Kazazian Jr doi:10.1038/9638 Full text|PDF
(34K)
Imprinting and monogamypp130 - 131 Tom Moore
& Walter Mills doi:10.1038/9639 Full text|PDF
(45K)
Genetic conflicts and the private life of Peromyscus polionotusp131 David Haig doi:10.1038/9640 Full text|PDF
(35K)
The future of genetic counselling: an international perspectivepp133 - 137 Barbara Bowles Biesecker
& Theresa M. Marteau doi:10.1038/9641 Abstract|Full text|PDF
(63K)
A polymorphism that affects OCT-1 binding to the TNF promoter
region is associated with severe malariapp145 - 150 Julian C. Knight, Irina Udalova, Adrian V.S. Hill, Brian M. Greenwood, Norbert Peshu, Kevin Marsh
& Dominic Kwiatkowski doi:10.1038/9649 Abstract|Full text|PDF
(447K)
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Hyperornithinaemia- hyperammonaemia- homocitrullinuria
syndrome is caused by mutations in a gene encoding a mitochondrial ornithine
transporterpp151 - 158 Jose A. Camacho, Cassandra Obie, Barbara Biery, Barbara K. Goodman, Chien-An Hu, Shlomo Almashanu, Gary Steel, Robin Casey, Marie Lambert, Grant A. Mitchell
& David Valle doi:10.1038/9658 Abstract|Full text|PDF
(733K)
The gene mutated in adult-onset type II citrullinaemia encodes a putative
mitochondrial carrier proteinpp159 - 163 Keiko Kobayashi, David S. Sinasac, Mikio Iijima, Andrew P. Boright, Laila Begum, Jeffrey R. Lee, Tomotsugu Yasuda, Sayaka Ikeda, Ryuki Hirano, Hiroki Terazono, Michael A. Crackower, Ikuko Kondo, Lap-Chee Tsui, Stephen W. Scherer
& Takeyori Saheki doi:10.1038/9667 Abstract|Full text|PDF
(184K)
Determination of ancestral alleles for human single-nucleotide polymorphisms
using high-density oligonucleotide arrayspp164 - 167 Joseph G. Hacia, Jian-Bing Fan, Oliver Ryder, Li Jin, Keith Edgemon, Ghassan Ghandour, R. Aeryn Mayer, Bryan Sun, Linda Hsie, Christiane M. Robbins, Lawrence C. Brody, David Wang, Eric S. Lander, Robert Lipshutz, Stephen P.A. Fodor
& Francis S. Collins doi:10.1038/9674 Abstract|Full text|PDF
(260K)
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Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatmentpp168 - 170 Jeffrey M. Drazen, Chandri N. Yandava, Louise Dubé, Natalie Szczerback, Richard Hippensteel, Antonino Pillari, Elliot Israel, Nicholas Schork, Eric S. Silverman, David A. Katz
& Jeffrey Drajesk doi:10.1038/9680 Abstract|Full text|PDF
(52K)
A double-stranded RNA binding protein required for activation of repressed
messages in mammalian germ cellspp171 - 174 Jun Zhong, Antoine H.F.M. Peters, Keesook Lee
& Robert E. Braun doi:10.1038/9684 Abstract|Full text|PDF
(5,532K)
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia
D and periodic fever syndromepp175 - 177 Sander M. Houten, Wietse Kuis, Marinus Duran, Tom J. de Koning, Annet van Royen-Kerkhof, Gerrit J. Romeijn, Joost Frenkel, Lambertus Dorland, Martina M.J. de Barse, Wim A.R. Huijbers, Ger T. Rijkers, Hans R. Waterham, Ronald J.A. Wanders
& Bwee Tien Poll-The doi:10.1038/9691 Abstract|Full text|PDF
(104K)
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Mutations in the gene encoding mevalonate kinase cause hyper-IgD and
periodic fever syndromepp178 - 181 Joost P.H. Drenth, Laurence Cuisset, Gilles Grateau, Christian Vasseur, Saskia D. van de Velde-Visser, Jan G.N. de Jong, Jacques S. Beckmann, Jos W.M. van der Meer
& Marc Delpech & contributing members of the International
Hyper-IgD Study Group doi:10.1038/9696 Abstract|Full text|PDF
(143K)
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The gene mutated in bare patches and striated mice encodes a novel 3-hydroxysteroid
dehydrogenasepp182 - 187 Xiao Yu Liu, Andrew W. Dangel, Richard I. Kelley, Wei Zhao, Paul Denny, Marc Botcherby, Bruce Cattanach, Jo Peters, Patricia R. Hunsicker, Ann-Marie Mallon, Mark A. Strivens, Rachael Bate, Webb Miller, Michael Rhodes, Stephen D.M. Brown
& Gail E. Herman doi:10.1038/9700 Abstract|Full text|PDF
(627K)
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatuspp188 - 191 Hiroyuki Yamamoto, András Simon, Ulf Eriksson, Eddie Harris, Eliot L. Berson
& Thaddeus P. Dryja doi:10.1038/9707 Abstract|Full text|PDF
(280K)
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporterpp192 - 195 Eric Delpire, Jianming Lu, Roger England, Christopher Dull
& Tina Thorne doi:10.1038/9713 Abstract|Full text|PDF
(983K)
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephalypp196 - 198 Deeann E. Wallis, Erich Roessler, Ute Hehr, Luisa Nanni, Tim Wiltshire, Antonio Richieri-Costa, Gabriele Gillessen-Kaesbach, Elaine H. Zackai, Johanna Rommens
& Maximilian Muenke doi:10.1038/9718 Abstract|Full text|PDF
(357K)
A single EFEMP1 mutation associated with both Malattia Leventinese
and Doyne honeycomb retinal dystrophypp199 - 202 Edwin M. Stone, Andrew J. Lotery, Francis L. Munier, Elise Héon, Bertrand Piguet, Robyn H. Guymer, Kimberlie Vandenburgh, Pascal Cousin, Darryl Nishimura, Ruth E. Swiderski, Giuliana Silvestri, David A. Mackey, Gregory S. Hageman, Alan C. Bird, Val C. Sheffield
& Daniel F. Schorderet doi:10.1038/9722 Abstract|Full text|PDF
(596K)
DNA methylation represses transcription in vivopp203 - 206 Zahava Siegfried, Sharon Eden, Monica Mendelsohn, Xu Feng, Ben-Zion Tsuberi
& Howard Cedar doi:10.1038/9727 Abstract|Full text|PDF
(453K)
Retroposition of autosomal mRNA yielded testis-specific gene family on
human Y chromosomep209 Bruce T Lahn
& David C Page doi:10.1038/9735 Full text|PDF
(110K)
Acetylated histones are associated with FMR1 in normal but not fragile
X-syndrome cellsp209 Bradford Coffee doi:10.1038/9738 Full text|PDF
(110K)
-hydroxysteroid
dehydrogenase
