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Keeping track of the translocations pp85 - 86
doi:10.1038/ng1092-85
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(524K)
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| News and Views | Top |
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Opening the gates on ion channel diseases pp87 - 89
John H. Caldwell
& Kristin L. Schaller
doi:10.1038/ng1092-87
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(465K)
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Breast cancer genes: how many, where and who are they? pp89 - 90
Mary-Claire King
doi:10.1038/ng1092-89
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(200K)
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| Correspondence | Top |
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A common origin for cornified envelope proteins? p91
Claude Backendorf
& Daniel Hohl
doi:10.1038/ng1092-91
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(255K)
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| Review | Top |
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A brief history of gene therapy pp93 - 98
Theodore Friedmann
doi:10.1038/ng1092-93
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(672K)
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| Articles | Top |
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Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus pp99 - 102
Ans M.W. van den Ouweland, Jos C.F.M. Dreesen, Marian Verdijk, Nine V.A.M. Knoers, Leo A.H. Monnens, Mariano Rocchi
& Bernard A. van Oost
doi:10.1038/ng1092-99
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(697K)
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Mutations in the V2 vasopressin receptor gene are associated with X−linked nephrogenic diabetes insipidus pp103 - 106
Yang Pan, Aida Metzenberg, Soma Das, Biqi Jing
& Jane Gitschier
doi:10.1038/ng1092-103
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(367K)
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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X−linked hydrocephalus pp107 - 112
André Rosenthal, Monique Jouet
& Susan Kenwrick
doi:10.1038/ng1092-107
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(717K)
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A trithorax−like gene is interrupted by chromosome 11q23 translocations in acute leukaemias pp113 - 118
Malek Djabali, Licia Selleri, Pauline Parry, Mark Bower, Bryan D. Young
& Glen A. Evans
doi:10.1038/ng1092-113
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(795K)
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Human homologs of a Drosophila Enhancer of Split gene product define a novel family of nuclear proteins pp119 - 127
Stefano Stifani, Christine M. Blaumueller, Nicola J. Redhead, Robert E. Hill
& Spyros Artavanis-Tsakonas
doi:10.1038/ng1092-119
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(1,542K)
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Allele losses in the region 17q12−21 in familial breast and ovarian cancer involve the wild−type chromosome pp128 - 131
S.A. Smith, D.F. Easton, D.G.R. Evans
& B.A.J. Ponder
doi:10.1038/ng1092-128
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(419K)
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A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome pp132 - 134
Richard Wooster, Jonathan Mangion, Rosalind Eeles, Simon Smith, Mitchell Dowsett, Diane Averill, Peter Barrett-Lee, Douglas F. Easton, Bruce A.J. Ponder
& Michael R. Stratton
doi:10.1038/ng1092-132
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(384K)
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Identifying individuals by sequencing mitochondrial DNA from teeth pp135 - 138
Charles Ginther, Laurie Issel-Tarver
& Mary-Claire King
doi:10.1038/ng1092-135
Abstract + references | PDF
(427K)
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Norrie disease is caused by mutations in an extracellular protein resembling C−terminal globular domain of mucins pp139 - 143
Alfons Meindl, Wolfgang Berger, Thomas Meitinger, Dorien van de Pol, Helene Achatz, Christa Dörner, Martina Haasemann, Heide Hellebrand, Andreas Gal, Frans Cremers
& Hans-Hilger Ropers
doi:10.1038/ng1092-139
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(643K)
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Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding pp144 - 147
Jeffrey A. Rudolph, Sharon J. Spier, Glen Byrns, Cecilia V. Rojas, Domenico Bernoco
& Eric P. Hoffman
doi:10.1038/ng1092-144
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(491K)
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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel pp148 - 152
Andrea I. McClatchey, Diane McKenna-Yasek, Didier Cros, Hilary G. Worthen, Ralph W. Kuncl, Shari M. DeSilva, David R. Cornblath, James F. Gusella
& Robert H. Brown Jr
doi:10.1038/ng1092-148
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(601K)
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Missense glucokinase mutation in maturity−onset diabetes of the young and mutation screening in late−onset diabetes pp153 - 156
M. Stoffel, P. Patel, Y-M.D. Lo, A.T. Hattersley, A.M. Lucassen, R. Page, J.I. Bell, G.I. Bell, R.C. Turner
& J.S. Wainscoat
doi:10.1038/ng1092-153
Abstract + references | PDF
(544K)
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Gelsolin−derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187 pp157 - 160
Albert de la Chapelle, Ritva Tolvanen, Gudrun Boysen, Jiri Santavy, Liesbeth Bleeker-Wagemakers, C.P.J. Maury
& Juha Kere
doi:10.1038/ng1092-157
Abstract + references | PDF
(435K)
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Methylation of CpG sites of two X−linked genes coincides with X−inactivation in the female mouse embryo but not in the germ line pp161 - 166
Mark Grant, Maurizio Zuccotti
& Marilyn Monk
doi:10.1038/ng1092-161
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(785K)
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