More missense in amyloid genepp255 - 256 D.A. Carter, E. Desmarais, M. Bellis, D. Campion, F. Clerget-Darpoux, A. Brice, Y. Agid, A. Jaillard-Serradt
& J. Mallet doi:10.1038/ng1292-255 References|PDF
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dlg−R proteins: modified guanylate kinasespp256 - 257 Eugene V. Koonin, Daniel F. Woods
& Peter J. Bryant doi:10.1038/ng1292-256 References|PDF
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Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader−Willi syndrome regionpp259 - 264 Stuart E. Leff, Camilynn I. Brannan, Martha L. Reed, Tayfun Özçelik, Uta Francke, Neal G. Copeland
& Nancy A. Jenkins doi:10.1038/ng1292-259 Abstract + references|PDF
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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader−Willi syndrome critical regionpp265 - 269 Tayfun Özçelik, Stuart Leff, Wendy Robinson, Tim Donlon, Marc Lalande, Elvira Sanjines, Albert Schinzel
& Uta Francke doi:10.1038/ng1292-265 Abstract + references|PDF
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A candidate mouse model for Prader−Willi syndrome which shows an absence of Snrpn expressionpp270 - 274 Bruce M. Cattanach, Jacqueline A. Barr, Edward P. Evans, Michael Burtenshaw, Colin V. Beechey, Stuart E. Leff, Camilynn I. Brannan, Neal G. Copeland, Nancy A. Jenkins
& Janet Jones doi:10.1038/ng1292-270 Abstract + references|PDF
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Telomere−associated chromosome fragmentation: applications in genome manipulation and analysispp275 - 282 Christine J. Farr, Milena Stevanovic, Eric J. Thomson, Peter N. Goodfellow
& Howard J. Cooke doi:10.1038/ng1292-275 Abstract + references|PDF
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Targeted breakage of a human chromosome mediated by cloned human telomeric DNApp283 - 287 Jane E. Itzhaki, Michael A. Barnett, Angela B. MacCarthy, Veronica J. Buckle, William R.A. Brown
& Andrew C.G. Porter doi:10.1038/ng1292-283 Abstract + references|PDF
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Identical point mutations of PMP−22 in Trembler−J mouse and Charcot−Marie−Tooth disease type 1App288 - 291 Linda J. Valentijn, Frank Baas, Ruud A. Wolterman, Jessica E. Hoogendijk, Norbert H.A. van den Bosch, Ina Zorn, Anneke A.W.M. Gabreëls-Festen, Marianne de Visser
& Pieter A. Bolhuis doi:10.1038/ng1292-288 Abstract + references|PDF
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Charcot−Marie−Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unitpp292 - 300 Liu Pentao, Carol A. Wise, A. Craig Chinault, Pragna I. Patel
& James R. Lupski doi:10.1038/ng1292-292 Abstract + references|PDF
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Meiotic stability and genotype − phenotype correlation of the trinucleotide repeat in X−linked spinal and bulbar muscular atrophypp301 - 304 Albert R. La Spada, Daniel B. Roling, Anita E. Harding, Carolyn L. Warner, Roland Spiegel, Irena Hausmanowa-Petrusewicz, Woon-Chee Yee
& Kenneth H. Fischbeck doi:10.1038/ng1292-301 Abstract + references|PDF
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Structure of the X−linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosomepp305 - 310 Ignacio del Castillo, Martine Cohen-Salmon, Stéphane Blanchard, Georges Lutfalla
& Christine Petit doi:10.1038/ng1292-305 Abstract + references|PDF
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Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomespp311 - 314 B. Incerti, S. Guioli, A. Pragliola, E. Zanaria, G. Borsani, R. Tonlorenzi, B. Bardoni, B. Franco, D. Wheeler, A. Ballabio
& G. Camerino doi:10.1038/ng1292-311 Abstract + references|PDF
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Linkage of Tunisian autosomal recessive Duchenne−like muscular dystrophy to the pericentromeric region of chromosome 13qpp315 - 317 Kamel Ben Othmane, Mongi Ben Hamida, Margaret A. Pericak-Vance, Christiane Ben Hamida, Samir Blel, Susan C. Carter, Anne M. Bowcock, Konstantin Petruhkin, T. Conrad Gilliam, Allen D. Roses, Faycal Hentati
& Jeffery M. Vance doi:10.1038/ng1292-315 Abstract + references|PDF
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Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brainpp318 - 323 Nay Wei Soong, David R. Hinton, Gino Cortopassi
& Norman Arnheim doi:10.1038/ng1292-318 Abstract + references|PDF
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Mitochondrial DNA deletions in human brain: regional variability and increase with advanced agepp324 - 329 Marisol Corral-Debrinski, Terzah Horton, Marie T. Lott, John M. Shoffner, M. Flint Beal
& Douglas C. Wallace doi:10.1038/ng1292-324 Abstract + references|PDF
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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14pp330 - 334 P. St George-Hyslop, J. Haines, E. Rogaev, M. Mortilla, G. Vaula, M. Pericak-Vance, J-F Foncin, M. Montesi, A. Bruni, S. Sorbi, I. Rainero, L. Pinessi, D. Pollen, R. Polinsky, L. Nee, J. Kennedy, F. Macciardi, E. Rogaeva, Y. Liang, N. Alexandrova, W. Lukiw, K. Schlumpf, R. Tanzi, T. Tsuda, L. Farrer, J-M Cantu, R. Duara, L. Amaducci, L. Bergamini, J. Gusella, A. Roses
& D. Crapper McLachlan doi:10.1038/ng1292-330 Abstract + references|PDF
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Mapping of a gene predisposing to early−onset Alzheimer's disease to chromosome 14q24.3pp335 - 339 Christine Van Broeckhoven, Hubert Backhovens, Marc Cruts, Goedele De Winter, Marc Bruyland, Patrick Cras
& Jean-Jacques Martin doi:10.1038/ng1292-335 Abstract + references|PDF
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A locus for familial early−onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the 1−antichymotrypsin genepp340 - 342 Mike Mullan, Henry Houlden, Mike Windelspecht, Liana Fidani, Chris Lombardi, Pat Diaz, Martin Rossor, Richard Crook, John Hardy, Karen Duff
& Fiona Crawford doi:10.1038/ng1292-340 Abstract + references|PDF
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Erratum: Human homologs of a Drosophila Enhancer of split gene product define a novel family of nuclear proteinsp343 doi:10.1038/ng1292-343a PDF
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Erratum: Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finlandp343 doi:10.1038/ng1292-343b PDF
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Erratum: A frameshift mutation in the E-crystallin gene of the Elo mousep343 doi:10.1038/ng1292-343c PDF
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1−antichymotrypsin gene
E-crystallin gene of the Elo mouse
