Leptin receptor missense mutation in the fatty Zucker ratpp18 - 19 Michael S. Phillips, Qingyun Liu, Holly A. Hammond, Valarie Dugan, Patricia J. Hey, C. Thomas Caskey
& J. Fred Hess doi:10.1038/ng0596-18 References|PDF
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Chromosome−size dependent control of meiotic recombination in humanspp20 - 21 David B. Kaback doi:10.1038/ng0596-20 References|PDF
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Menkes disease mutations and response to early copper histidine treatmentpp21 - 22 Stephen G. Kaler doi:10.1038/ng0596-21 References|PDF
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Internal repeats in the BRCA2 protein sequencepp22 - 23 Peer Bork, Niklas Blomberg
& Michael Nilges doi:10.1038/ng0596-22 References|PDF
(203K)
Genetic analysis of ageing: role of oxidative damage and environmental stressespp25 - 34 George M. Martin, Steven N. Austad
& Thomas E. Johnson doi:10.1038/ng0596-25 Abstract + references|PDF
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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X−linked retinitis pigmentosa (RP3)pp35 - 42 A. Meindl, K. Dry, K. Herrmann, E. Manson, A. Ciccodicola, A. Edgar, M.R.S. Carvalho, H. Achatz, H. Hellebrand, A. Lennon, C. Migliaccio, K. Porter, E. Zrenner, A. Bird, M. Jay, B. Lorenz, B. Wittwer, M. D'Urso, T. Meitinger
& A. Wright doi:10.1038/ng0596-35 Abstract + references|PDF
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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injurypp43 - 47 Andrew. G. Reaume, Jeffrey L. Elliott, Eric K. Hoffman, Neil W. Kowall, Robert J. Ferrante, Donald R Siwek, Heide M. Wilcox, Dorothy G. Flood, M. Flint Beal, Robert H. Brown Jr., Richard W. Scott
& William D. Snider doi:10.1038/ng0596-43 Abstract + references|PDF
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Exclusive paternal origin of new mutations in Apert syndromepp48 - 53 Dominique M. Moloney, Sarah R Slaney, Michael Oldridge, Steven A. Wall, Pelle Sahlin, Göran Stenman
& Andrew O.M. Wilkie doi:10.1038/ng0596-48 Abstract + references|PDF
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Effective treatment of familial hypercholesterolaemia in the mouse model using adenovirus−mediated transfer of the VLDL receptor genepp54 - 62 Karen E. Kozarsky, Karin Jooss, Mary Donahee, Jerome F. Strauss III
& James M. Wilson doi:10.1038/ng0596-54 Abstract + references|PDF
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Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal musclepp63 - 69 Karl Poetter, He Jiang, Shahin Hassanzadeh, Stephen R. Master, Anthony Chang, Marinos C. Dalakas, Ivan Rayment, James R. Sellers, Lameh Fananapazir
& Neal D. Epstein doi:10.1038/ng0596-63 Abstract + references|PDF
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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndromepp70 - 77 Elena Maestrini, Anthony P. Monaco, John A. McGrath, Akemi Ishida-Yamamoto, Charles Camisa, Alain Hovnanian, Daniel E. Weeks, Mark Lathrop, Jouni Uitto
& Angela M. Christiano doi:10.1038/ng0596-70 Abstract + references|PDF
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High frequency de novo alterations in the long−range genomic structure of the mouse pseudoautosomal regionpp78 - 82 David Kipling, Eduardo C. Salido, Larry J. Shapiro
& Howard J. Cooke doi:10.1038/ng0596-78 Abstract + references|PDF
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Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts)pp83 - 86 Eduardo C. Salido, Xiao M. Li, Pauline H. Yen, Natalia Martin, Thuluvancheri K. Mohandas
& Larry J. Shapiro doi:10.1038/ng0596-83 Abstract + references|PDF
(647K)
A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1−b1 using RLGS spot−mappingpp87 - 90 Yasushi Okazaki, Hisato Okuizumi, Tomoya Ohsumi, Osamu Nomura, Shuji Takada, Mamoru Kamiya, Nobuya Sasaki, Yoichi Matsuda, Masahiko Nishimura, Osamu Tagaya, Masami Muramatsu
& Yoshihide Hayashizaki doi:10.1038/ng0596-87 Abstract + references|PDF
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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriapp95 - 97 Peter N. Meissner, Tamara A. Dailey, Richard J. Hift, Mel Ziman, Anne V. Corrigall, Andrew G. Roberts, Doreen M. Meissner, Ralph E. Kirsch
& Harry A. Dailey doi:10.1038/ng0596-95 Abstract + references|PDF
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Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12pp98 - 100 Herbert Schuster, Thomas F. Wienker, Sylvia Bähring, Nihat Bilginturan, Hakan R. Toka, Heidemarie Neitzel, Eva Jeschke, Okan Toka, Dennis Gilbert, Adam Lowe, Jürg Ott, Hermann Haller
& Friedrich C. Luft doi:10.1038/ng0596-98 Abstract + references|PDF
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The gene for hereditary sensory neuropathy type I (HSN−I) maps to chromosome 9q22.1−q22.3pp101 - 104 Garth A. Nicholson, Jennifer L. Dawkins, Ian P. Blair, Marina L. Kennerson, Melissa J. Gordon, Annia K. Cherryson, Janet Nash
& Tessy Bananis doi:10.1038/ng0596-101 Abstract + references|PDF
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Identification of the gene FMR2, associated with FRAXE mental retardationpp105 - 108 Jozef Gecz, Agi K. Gedeon, Grant R. Sutherland
& John C. Mulley doi:10.1038/ng0596-105 Abstract + references|PDF
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG islandpp109 - 113 Yanghong Gu, Ying Shen, Richard A. Gibbs
& David L. Nelson doi:10.1038/ng0596-109 Abstract + references|PDF
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Localization of the gene for Cowden disease to chromosome 10q22−23pp114 - 116 M.R. Nelen, G.W. Padberg, E.A.J. Peeters, A.Y. Lin, B. van den Helm, R.R. Frants, V. Goulon, A.M. Goldstein, M.M.M van Reen, D.F. Eastern, R.A. Eeles, S. Hodgson, J.J. Mulvihill, V.A. Murday, M.A. Tucker, E.C.M. Mariman, T.M. Starink, B.A.J. Ponder, H.H. Ropers, H. Kremer, M. Longy
& C. Eng doi:10.1038/ng0596-114 Abstract + references|PDF
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A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypespp117 - 119 Steinunn Thorlacius, Gudridur Olafsdottir, Laufey Tryggvadottir, Susan Neuhausen, Jon G. Jonasson, Sean V. Tavtigian, Hrafn Tulinius, Helga M. Ögmundsdottir
& Jorunn E. Eyfjörd doi:10.1038/ng0596-117 Abstract + references|PDF
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Mutation analysis of the BRCA2 gene in 49 site−specific breast cancer familiespp120 - 122 Catherine M. Phelan, Johnathan M. Lancaster, Patricia Tonin, Curtis Gumbs, Charles Cochran, Ron Carter, Parviz Ghadirian, Chantal Perret, Roxana Moslehi, France Dion, Marie-Claude Faucher, Kiran Dole, Sepideh Karimi, Willliam Foulkes, Hafida Lounis, Ellen Warner, Paul Goss, David Anderson, Catharina Larsson, Steven A. Narod
& P. Andrew Futreal doi:10.1038/ng0596-120 Abstract + references|PDF
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BRCA2 germline mutations in male breast cancer cases and breast cancer familiespp123 - 125 Fergus J. Couch, Linda M. Farid, Michelle L. DeShano, Sean V. Tavtigian, Kathleen Calzone, Lisa Campeau, Yi Peng, Bert Bogden, Qian Chen, Susan Neuhausen, Donna Shattuck-Eidens, Andrew K. Godwin, Mary Daly, Diane M. Radford, Scott Sedlacek, Johanna Rommens, Jacques Simard, Judy Garber, Sofia Merajver
& Barbara L. Weber doi:10.1038/ng0596-123 Abstract + references|PDF
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Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancerpp126 - 128 Susan Neuhausen, Teresa Gilewski, Larry Norton, Thao Tran, Peter McGuire, Jeff Swensen, Heather Hampel, Patrick Borgen, Karen Brown, Mark Skolnick, Donna Shattuck-Eidens, Suresh Jhanwar, David Goldgar
& Kenneth Offit doi:10.1038/ng0596-126 Abstract + references|PDF
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Erratum: Modulation of disease severity in cystic f ibrosis transmembrane conductance regulator deficient mice by a secondary genetic factorp129 doi:10.1038/ng0596-129a PDF
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Erratum: Schizophrenia susceptibility and chromosome 6p24-22p129 doi:10.1038/ng0596-129b PDF
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Corrigendum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral refluxp129 doi:10.1038/ng0596-129c PDF
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