A human compound heterozygote for two MLH1 missense mutationspp135 - 136 Peter Hackman, Pia Tannergård, Salome Osei-Mensa, Jindong Chen, Michael F. Kane, Richard Kolodner, Bo Lambert, Dennis Hellgren
& Annika Lindblom doi:10.1038/ng1097-135 References|PDF
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Sex−dependent rearrangements resulting in CMT1A and HNPPpp136 - 137 Judith Lopes, Antoon Vandenberghe, Sandrine Tardieu, Victor lonasescu, Nicolas Lévy, Nicholas Wood, Nobutada Tachi, Pierre Bouche, Philippe Latour, Alexis Brice
& Eric LeGuern doi:10.1038/ng1097-136 References|PDF
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Early-onset type-ll diabetes mellitus (MODY4) linked to IPF1pp138 - 139 Doris A. Staffers, Jorge Ferrer, William L. Clarke
& Joel F. Habener doi:10.1038/ng1097-138 References|PDF
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Mutations in RPE65 cause Leber's congenital amaurosispp139 - 141 Françoise Marlhens, Corinne Bareil, Jean-Michel Griffoin, Eberhart Zrenner, Pierre Amalric, Claudie Eliaou, Su-Yan Liu, Eddie Harris, T. Michael Redmond, Bernard Arnaud, Mireille Claustres
& Christian P. Hamel doi:10.1038/ng1097-139 References|PDF
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KILLER/DR5 is a DNA damage−inducible p53−regulated death receptor genepp141 - 143 Gen Sheng Wu, Timothy F. Burns, E. Robert McDonald III, Wen Jiang, Ray Meng, Ian D. Krantz, Gary Kao, Dai-Di Gan, Jun-Ying Zhou, Ruth Muschel, Stanley R. Hamilton, Nancy B. Spinner, Sanford Markowitz, Gary Wu
& Wafik S. El-Deiry doi:10.1038/ng1097-141 References|PDF
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PTEN1 is frequently mutated in primary endometrial carcinomaspp143 - 144 Dehe Kong, Akihiko Suzuki, Tong-Tong Zou, Akira Sakurada, Lawrence W. Kemp, Shigeru Wakatsuki, Tadaaki Yokoyama, Hiromitsu Yamakawa, Toru Furukawa, Masami Sato, Noriaki Ohuchi, Shinji Sato, Jing Yin, Suna Wang, John M. Abraham, Rhonda F. Souza, Kara N. Smolinski, Stephen J. Meltzer
& Akira Horii doi:10.1038/ng1097-143 References|PDF
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Genetic interaction between HAP1/REF-1 and p53p145 Lisiane B. Meira, David L. Cheo, Robert E. Hammer, Dennis K. Burns, Antonio Reis
& Errol C. Friedberg doi:10.1038/ng1097-145 References|PDF
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domainpp146 - 148 Richard J. Gibbons, Satvinder Bachoo, David J. Picketts, Salim Aftimos, Bernhard Asenbauer, JoAnn Bergoffen, Susan A. Berry, Niklas Dahl, Alan Fryer, Kim Keppler, Kenji Kurosawa, Michael L. Levin, Mitsuo Masuno, Giovanni Neri, Mary Ella Pierpont, Sarah F. Slaney
& Douglas R. Higgs doi:10.1038/ng1097-146 References|PDF
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Diabetes, dependence, asymptotics, selection and significancep148 Augustine Kong, Mike Frigge, Graeme I. Bell, Eric S. Lander, Mark J. Daly
& Nancy J. Cox doi:10.1038/ng1097-148 References|PDF
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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1pp149 - 153 Friedhelm Hildebrandt, Edgar Otto, Cornelia Rensing, Hans Gerd Nothwang, Martin Vollmer, Jörn Adolphs, Helge Hanusch
& Matthias Brandis doi:10.1038/ng1097-149 Abstract + references|PDF
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromepp154 - 163 Ken-Shiung Chen, Prasad Manian, Thearith Koeuth, Lorraine Potocki, Qi Zhao, A. Craig Chinault, Cheng Chi Lee
& James R. Lupski doi:10.1038/ng1097-154 Abstract + references|PDF
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Positional cloning of the gene associated with X-linked juvenile retinoschisispp164 - 170 Christian G. Sauer, Andrea Gehrig, Regina Warneke-Wittstock, Andreas Marquardt, Cecil C. Ewing, Alice Gibson, Birgit Lorenz, Bernhard Jurklies
& Bernhard H.F. Weber doi:10.1038/ng1097-164 Abstract + references|PDF
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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type IIIpp171 - 178 David B. Simon, Ranjit S. Bindra, Traci A. Mansfield, Carol Nelson-Williams, Erica Mendonca, Rosário Stone, Scott Schurman, Ahmet Nayir, Harika Alpay, Aysin Bakkaloglu, Juan Rodriguez-Soriano, Jose M. Morales, Sami A. Sanjad, C. Mark Taylor, Daniela Pilz, Andrew Brem, Howard Trachtman, William Griswold, George A. Richard, Eunice John
& Richard P. Lifton doi:10.1038/ng1097-171 Abstract + references|PDF
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Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutationpp179 - 181 Weining Lu, Bernard Peissel, Hermik Babakhanlou, Anna Pavlova, Lin Geng, Xiaohong Fan, Cecilia Larson, Gregory Brent
& Jing Zhou doi:10.1038/ng1097-179 Abstract + references|PDF
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Male−driven evolution of DNA sequences in birdspp182 - 184 Hans Ellegren
& Anna-Karin Fridolfsson doi:10.1038/ng1097-182 Abstract + references|PDF
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Identification of PAHX, a Refsum disease genepp185 - 189 Stephanie J. Mihalik, James C. Morrell, Do Kim, Katherine A. Sacksteder, Paul A. Watkins
& Stephen J. Gould doi:10.1038/ng1097-185 Abstract + references|PDF
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Refsum disease is caused by mutations in the phytanoyl−CoA hydroxylase genepp190 - 193 Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse, Lodewijk Ijlst, Anton O. Muijsers, Ola H. Skjeldal, Oddvar Stokke, Cornells Jakobs, Guy T.N. Besley, J. Ed Wraith
& Ronald J.A. Wanders doi:10.1038/ng1097-190 Abstract + references|PDF
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Mutations in RPE65 cause autosomal recessive childhood−onset severe retinal dystrophypp194 - 197 Su-min Gu, Debra A. Thompson, C.R. Srisailapathy Srikumari, Birgit Lorenz, Ulrich Finckh, Aileen Nicoletti, K.R. Murthy, Michaela Rathmann, Govindasamy Kumaramanickavel, Michael J. Denton
& Andreas Gal doi:10.1038/ng1097-194 Abstract + references|PDF
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Mutation of the gene encoding cellular retinaldehyde−binding protein in autosomal recessive retinitis pigmentosapp198 - 200 Marion A. Maw, Breandan Kennedy, Allison Knight, Robyn Bridges, Karen E. Roth, E.J. Mani, J.K. Mukkadan, Derek Nancarrow, John W. Crabb
& Michael J. Denton doi:10.1038/ng1097-198 Abstract + references|PDF
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The genetic and functional basis of isolated 17,20−lyase deficiencypp201 - 205 David H. Geller, Richard J. Auchus, Berenice B. Mendonça
& Walter L. Miller doi:10.1038/ng1097-201 Abstract + references|PDF
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Increased stress response and −phenylethylamine in MAOB−deficient micepp206 - 210 Joseph Grimsby, Miklos Toth, Kevin Chen, Takeshi Kumazawa, Lori Klaidman, James D. Adams, Farouk Karoum, Judit Gal
& Jean C. Shih doi:10.1038/ng1097-206 Abstract + references|PDF
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Aconitase and mitochondrial iron−sulphur protein deficiency in Friedreich ataxiapp215 - 217 Agnès Rötig, Pascale de Lonlay, Dominique Chretien, Françoise Foury, Michel Koenig, Daniel Sidi, Arnold Munnich
& Pierre Rustin doi:10.1038/ng1097-215 Abstract + references|PDF
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Targetting of the gene encoding fibrillin−1 recapitulates the vascular aspect of Marfan syndromepp218 - 222 Lygia Pereira, Konstantinos Andrikopoulos, Jenny Tian, Sui Ying Lee, Douglas R. Keene, Robert Ono, Dieter P. Reinhardt, Lynn Y. Sakai, Nancy Jensen Biery, Tracie Bunton, Harry C. Dietz
& Francesco Ramirez doi:10.1038/ng1097-218 Abstract + references|PDF
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Cre−mediated chromosome loss in micepp223 - 225 Mark Lewandoski
& Gail R. Martin doi:10.1038/ng1097-223 Abstract + references|PDF
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Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myelomapp226 - 230 Shinsuke Iida, Pulivarthi H. Rao, Marion Butler, Paolo Corradini, Mario Boccadoro, Bernard Klein, R.S.K. Chaganti
& Riccardo Dalla-Favera doi:10.1038/ng1097-226 Abstract + references|PDF
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Human telomeres contain two distinct Myb−related proteins, TRF1 and TRF2pp231 - 235 Dominique Broccoli, Agata Smogorzewska, Laura Chong
& Titia de Lange doi:10.1038/ng1097-231 Abstract + references|PDF
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Telomeric localization of TRF2, a novel human telobox proteinpp236 - 239 Thomas Bilaud, Christine Brun, Katia Ancelin, Catherine Elaine Koering, Thierry Laroche
& Eric Gilson doi:10.1038/ng1097-236 Abstract + references|PDF
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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromepp240 - 244 John A. McGrath, James R. McMillan, Carrie S. Shemanko, Sarah K. Runswick, Irene M. Leigh, E. Birgitte Lane, David R. Garrod
& Robin A.J. Eady doi:10.1038/ng1097-240 Abstract|PDF
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−phenylethylamine in MAOB−deficient mice
