Male breast cancer and the androgen receptor genepp109 - 110 Jean-Marc Lobaccaro, Serge Lumbroso, Charles Belon, Florence Galtier-Dereure, Jacques Bringer, Thierry Lesimple, Jean-François Heron, Henri Pujol
& Charles Sultan doi:10.1038/ng1093-109 References|PDF
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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan diseasepp118 - 123 Rajinder Kaul, Guang Ping Gao, Kuppareddi Balamurugan
& Reuben Matalon doi:10.1038/ng1093-118 Abstract + references|PDF
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Screening patients for heterozygous p53 mutations using a functional assay in yeastpp124 - 129 Chikashi Ishioka, Thierry Frebourg, Yu-Xin Yan, Marc Vidal, Stephen H. Friend, Susanne Schmidt
& Richard Iggo doi:10.1038/ng1093-124 Abstract + references|PDF
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Long−term correction of mouse dystrophic degeneration by adenovirus−mediated transfer of a minidystrophin genepp130 - 134 Nathalie Vincent, Thierry Ragot, Hélè Gilgenkrantz, Dominique Couton, Philippe Chafey, Anne Grégoire, Pascale Briand, Jean-Claude Kaplan, Axel Kahn
& Michel Perricaudet doi:10.1038/ng1093-130 Abstract + references|PDF
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Non−invasive liposome−mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant micepp135 - 142 E. W. F. W. Alton, P. G. Middleton, N. J. Caplen, S. N. Smith, D. M. Steel, F. M. Munkonge, P. K. Jeffery, D. M. Geddes, S. L. Hart, R. Williamson, K. I. Fasold, A. D. Miller, P. Dickinson, B. J. Stevenson, G. McLachlan, J. R. Dorin
& D. J. Porteous doi:10.1038/ng1093-135 Abstract + references|PDF
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Disruption of insulin−like growth factor 2 imprinting in Beckwith−Wiedemann syndromepp143 - 150 Rosanna Weksberg, Ding Ren Shen, Yan Ling Fei, Qian Li Song
& Jeremy Squire doi:10.1038/ng1093-143 Abstract + references|PDF
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A novel metalloprotease/disintegrin−like gene at 17q21.3 is somatically rearranged in two primary breast cancerspp151 - 157 Mitsuru Emi, Toyomasa Katagiri, Yousuke Harada, Hiroko Saito, Johji Inazawa, Isao Ito, Fujio Kasumi
& Yusuke Nakamura doi:10.1038/ng1093-151 Abstract + references|PDF
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Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genespp158 - 162 Evgeny I. Rogaev, Ekaterina A. Rogaeva, Eugene K. Ginter, Galina I. Korovaitseva, Lindsay A. Farrer, Alexander B. Shlensky, Alexander N. Pritkov, Vladimir N. Mordovtsev
& Peter H. St George-Hyslop doi:10.1038/ng1093-158 Abstract + references|PDF
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Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14qpp163 - 167 Jamilé Hazan, Catherine Lamy, Judith Melki, Arnold Munnich, Jean de Recondo
& Jean Weissenbach doi:10.1038/ng1093-163 Abstract + references|PDF
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De novo expansion of a (CAG)n repeat in sporadic Huntington's diseasepp168 - 173 R. H. Myers, M. E. MacDonald, W. J. Koroshetz, M. P. Duyao, C. M. Ambrose, S. A. M. Taylor, G. Barnes, J. Srinidhi, C. S. Lin, W. L. Whaley, A. M. Lazzarini, M. Schwarz, G. Wolff, E. D. Bird, J.-P. G. Vonsattel
& J. F. Gusella doi:10.1038/ng1093-168 Abstract + references|PDF
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Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effectspp174 - 179 Y. Paul Goldberg, Berry Kremer, Susan E. Andrew, Jane Theilmann, Rona K. Graham, Ferdinando Squitieri, Håkan Telenius, Shelin Adam, Anaar Sajoo, Elizabeth Starr, Arvid Heiberg, Gerhard Wolff
& Michael R. Hayden doi:10.1038/ng1093-174 Abstract + references|PDF
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A mutation in the Norrie disease gene (NDP) associated with X−linked familial exudative vitreoretinopathypp180 - 183 Z-Y. Chen, E.M. Battinelli, A. Fielder, S. Bundey, K. Sims, X.O. Breakefield
& I.W. Craig doi:10.1038/ng1093-180 Abstract + references|PDF
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Reduced transcriptional regulatory competence of the androgen receptor in X−linked spinal and bulbar muscular atrophypp184 - 188 Anand N. Mhatre, Mark A. Trifiro, Morris Kaufman, Parsa Kazemi-Esfarjani, Denise Figlewicz, Guy Rouleau
& Leonard Pinsky doi:10.1038/ng1093-184 Abstract + references|PDF
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Evidence for a recessive PMP22 point mutation in Charcot−Marie−Tooth disease type 1App189 - 194 Benjamin B. Roa, Carlos A. Garcia, Liu Pentao, James M. Killian, Barbara J. Trask, Ueli Suter, G. Jackson Snipes, Rocio Ortiz-Lopez, Eric M. Shooter, Pragna I. Patel
& James R. Lupski doi:10.1038/ng1093-189 Abstract + references|PDF
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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mappingpp195 - 200 C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder, L. Reutenauer, C. Dib, G. Gyapay, A. Vignal, D. Le Paslier, D. Cohen, M. Pandolfo, V. Mokini, G. Novelli, F. Hentati, M. Ben Hamida, J.-L. Mandel
& M. Knig doi:10.1038/ng1093-195 Abstract + references|PDF
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Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2pp201 - 204 Martin R. Pollak, Yah-Huei Wu Chou, James J. Cerda, Beat Steinmann, Bert N. La Du, J. G. Seidman
& Christine E. Seidman doi:10.1038/ng1093-201 Abstract + references|PDF
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