A missense mutation confirms the L1 defect in X−linked hydrocephalus (HSAS)p331 Monique Jouet, André Rosenthal, John MacFarlane, Sue Kenwrick
& Dian Donnai doi:10.1038/ng0893-331 References|PDF
(117K)
dbEST database for "expressed sequence tags"pp332 - 333 Mark S. Boguski, Todd M.J. Lowe
& Carolyn M. Tolstoshev doi:10.1038/ng0893-332 References|PDF
(207K)
The FMR−1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutationpp335 - 340 Didier Devys, Yves Lutz, Nicolas Rouyer, Jean-Pierre Bellocq
& Jean-Louis Mandel doi:10.1038/ng0893-335 Abstract + references|PDF
(880K)
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft partspp341 - 345 Jessica Zucman, Olivier Delattre, Chantal Desmaze, Alan L. Epstein, Goran Stenman, Frank Speleman, Christopher D. M. Fletchers, Alain Aurias
& Gilles Thomas doi:10.1038/ng0893-341 Abstract + references|PDF
(510K)
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10pp346 - 350 S. Lyonnet, A. Bolino, A. Pelet, L. Abel, C. Nihoul-Fékété, M. L. Briard, V. Mok-Siu, H. Kaariainen, G. Martucciello, M. Lerone, A. Puliti, Yin Luo, J. Weissenbach, M. Devoto, A. Munnich
& G. Romeo doi:10.1038/ng0893-346 Abstract + references|PDF
(547K)
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10pp351 - 356 Misha Angrist, Erick Kauffman, Susan A. Slaugenhaupt, Tara Cox Matise, Erik G. Puffenberger, Sarah Shaw Washington, Anthony Lipson, Daniel T. Cass, Troy Reyna, Daniel E. Weeks, William Sieber
& Aravinda Chakravarti doi:10.1038/ng0893-351 Abstract + references|PDF
(676K)
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patientpp357 - 360 Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Arthur H. M. Burghes, Claire Bartolo, Mary S. Sedra, Lorraine M. Western
& Jerry R. Mendell doi:10.1038/ng0893-357 Abstract + references|PDF
(571K)
A Notl restriction map of the entire long arm of human chromosome 21pp361 - 366 Hitoshi Ichikawa, Fumie Hosoda, Yasuhito Arai, Kimiko Shimizu, Miki Ohira
& Misao Ohki doi:10.1038/ng0893-361 Abstract + references|PDF
(529K)
Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase genepp367 - 372 Weiwen Guo, Kim Worley, Volker Adams, Jestina Mason, Desirée Sylvester-Jackson, Yao-Hua Zhang, Jeffrey A. Towbin, Donna D. Fogt, Stella Madu, David A. Wheeler
& Edward R.B. McCabe doi:10.1038/ng0893-367 Abstract + references|PDF
(1,203K)
Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA librarypp373 - 380 Mark D. Adams, M. Bento Soares, Anthony R. Kerlavage, Chris Fields
& J. Craig Venter doi:10.1038/ng0893-373 Abstract + references|PDF
(917K)
Chromosomal distribution of 320 genes from a brain cDNA librarypp381 - 386 Mihael H. Polymeropoulos, Hong Xiao, James M. Sikela, Mark Adams, J. Craig Venter
& Carl R. Merril doi:10.1038/ng0893-381 Abstract + references|PDF
(606K)
Trinucleotide repeat length instability and age of onset in Huntington's diseasepp387 - 392 M. Duyao, C. Ambrose, R. Myers, A. Novelletto, F. Persichetti, M. Frontali, S. Folstein, C. Ross, M. Franz, M. Abbott, J. Gray, P. Conneally, A. Young, J. Penney, Z. Hollingsworth, I. Shoulson, A. Lazzarini, A. Falek, W. Koroshetz, D. Sax, E. Bird, J. Vonsattel, E. Bonilla, J. Alvir, J. Bickham Conde, J.-H. Cha, L. Dure, F. Gomez, M. Ramos, J. Sanchez-Ramos, S. Snodgrass, M. de Young, N. Wexler, C. Moscowitz, G. Penchaszadeh, H. MacFarlane, M. Anderson, B. Jenkins, J. Srinidhi, G. Barnes, J. Gusella
& M. MacDonald doi:10.1038/ng0893-387 Abstract + references|PDF
(668K)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's diseasepp393 - 397 Russell G. Snell, John C. MacMillan, Jeremy P. Cheadle, Iain Fenton, Lazarus P. Lazarou, Peter Davies, Marcy E. MacDonald, James F. Gusella, Peter S. Harper
& Duncan J. Shaw doi:10.1038/ng0893-393 Abstract + references|PDF
(431K)
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's diseasepp398 - 403 Susan E. Andrew, Y. Paul Goldberg, Berry Kremer, Håkan Telenius, Jane Theilmann, Shelin Adam, Elizabeth Starr, Ferdinando Squitieri, Biaoyang Lin, Michael A. Kalchman, Rona K. Graham
& Michael R. Hayden doi:10.1038/ng0893-398 Abstract + references|PDF
(587K)
Polygenic control of autoimmune diabetes in nonobese diabetic micepp404 - 409 S. Ghosh, S.M. Palmer, N.R. Rodrigues, H.J. Cordell, C.M. Hearne, R.J. Cornall, J.-B. Prins, P. McShane, G.M. Lathrop, L.B. Peterson, L.S. Wicker
& J.A. Todd doi:10.1038/ng0893-404 Abstract + references|PDF
(666K)
The ovine Booroola fecundity gene (FecB) is linked to markers from a region of human chromosome 4qpp410 - 414 G. W. Montgomery, A. M. Crawford, J. M. Penty, K. G. Dodds, A. J. Ede, H. M. Henry, C. A. Pierson, E. A. Lord, S. M. Galloway, A. E. Schmack, J. A. Sise, P. A. Swarbrick, V. Hanrahan, F. C. Buchanan
& D. F. Hill doi:10.1038/ng0893-410 Abstract + references|PDF
(597K)
The Wilms tumour gene WT1 is expressed in murine mesoderm−derived tissues and mutated in a human mesotheliomapp415 - 420 Seon Park, Martin Schalling, Amy Bernard, Shyamala Maheswaran, Gwen C. Shipley, Drucilla Roberts, Jonathan Fletcher, Robert Shipman, James Rheinwald, George Demetri, James Griffin, Mark Minden, David E. Housman
& Daniel A. Haber doi:10.1038/ng0893-415 Abstract + references|PDF
(928K)
A duplication in the L1CAM gene associated with X−linked hydrocephaluspp421 - 425 Guy Van Camp, Lieve Vits, Paul Coucke, Stanislas Lyonnet, Connie Schrander-Stumpel, John Darby, Jeanette Holden, Arnold Munnich
& Patrick J. Willems doi:10.1038/ng0893-421 Abstract + references|PDF
(576K)
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channelspp426 - 430 Stephen J. Delaney, Devra P. Rich, Scott A. Thomson, Murray R. Hargrave, Paul K. Lovelock, Michael J. Welsh
& Brandon J. Wainwright doi:10.1038/ng0893-426 Abstract + references|PDF
(669K)
Corrigendum: Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplificationp431 doi:10.1038/ng0893-431a PDF
(104K)