Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophypp323 - 327 Silvia Bione, Elena Maestrini, Stefano Rivella, Mita Mancini, Stefano Regis, Giovanni Romeo
& Daniela Toniolo doi:10.1038/ng1294-323 Abstract + references|PDF
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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndromepp328 - 332 Phillip T. Brook-Carter, Belén Peral, Christopher J. Ward, Peter Thompson, Jim Hughes, Magitha M. Maheshwar, Mark Nellist, Vicki Gamble, Peter C. Harris
& Julian R. Sampson doi:10.1038/ng1294-328 Abstract + references|PDF
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Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophypp333 - 339 Gregory A. Cox, Yoshihide Sunada, Kevin P. Campbell
& Jeffrey S. Chamberlain doi:10.1038/ng1294-333 Abstract + references|PDF
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Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx micepp340 - 344 David S. Greenberg, Yoshihide Sunada, Kevin P. Campbell, David Yaffe
& Uri Nudel doi:10.1038/ng1294-340 Abstract + references|PDF
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Endoglin, a TGF- binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1pp345 - 351 K.A. McAllister, K.M. Grogg, D.W. Johnson, C.J. Gallione, M.A. Baldwin, C.E. Jackson, E.A. Helmbold, D.S. Markel, W.C. McKinnon, J. Murrel, M.K. McCormick, M.A. Pericak-Vance, P. Heutink, B.A. Oostra, T. Haitjema, C.J.J. Westerman, M.E. Porteous, A.E. Guttmacher, M. Letarte
& D.A. Marchuk doi:10.1038/ng1294-345 Abstract + references|PDF
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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophypp352 - 356 Bernhard H. F. Weber, Gudrun Vogt, Ronald C. Pruett, Heidi Stöhr
& Ute Felbor doi:10.1038/ng1294-352 Abstract + references|PDF
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Mapping a gene for Noonan syndrome to the long arm of chromosome 12pp357 - 360 C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady, Margo van Reen, Madiha M. Elsawi, Frans Hol, Steve Jeffery, Michael A. Patton
& Edwin Mariman doi:10.1038/ng1294-357 Abstract + references|PDF
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The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic associationpp361 - 364 Maritta Pigg, Sten Jagell, Anna Sillén, Jean Weissenbach, Karl-Henrik Gustavson
& Claes Wadelius doi:10.1038/ng1294-361 Abstract + references|PDF
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A 300 kilobase interval genetic map of rice including 883 expressed sequencespp365 - 372 N. Kurata, Y. Nagamura, K. Yamamoto, Y. Harushima, N. Sue, J. Wu, B.A. Antonio, A. Shomura, T. Shimizu, S-Y. Lin, T. Inoue, A. Fukuda, T. Shimano, Y. Kuboki, T. Toyama, Y. Miyamoto, T. Kirihara, K. Hayasaka, A. Miyao, L. Monna, H.S. Zhong, Y. Tamura, Z-X, Wang, T. Momma, Y. Umehara, M. Yano, T. Sasaki
& Y. Minobe doi:10.1038/ng1294-365 Abstract + references|PDF
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Parental imprinting of the Mas protooncogene in mousepp373 - 379 Angela J. Villar
& Roger A. Pedersen doi:10.1038/ng1294-373 Abstract + references|PDF
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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasispp380 - 386 Roderick H. J. Houwen, Siamak Baharloo, Kathleen Blankenship, Peter Raeymaekers, Jenneke Juyn, Lodewijk A. Sandkuijl
& Nelson B. Freimer doi:10.1038/ng1294-380 Abstract + references|PDF
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Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancerpp387 - 391 Lucio H. Castilla, Fergus J. Couch, Michael R. Erdos, Kent F. Hoskins, Kathy Calzone, Judy E. Garber, Jeff Boyd, Matthew B. Lubin, Michelle L. Deshano, Lawrence C. Brody, Francis S. Collins
& Barbara L. Weber doi:10.1038/ng1294-387 Abstract + references|PDF
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Common origins of BRCA1 mutations in Canadian breast and ovarian cancer familiespp392 - 398 J. Simard, P. Tonin, F. Durocher, K. Morgan, J. Rommens, S. Gingras, C. Samson, J.-F. Leblanc, C. Bélanger, F. Dion, Q. Liu, M. Skolnick, D. Goldgar, D. Shattuck-Eidens, F. Labrie
& S.A. Narod doi:10.1038/ng1294-392 Abstract + references|PDF
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Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten familiespp399 - 404 Lori S. Friedman, Elizabeth A. Ostermeyer, Csilla I. Szabo, Patrick Dowd, Eric D. Lynch, Sarah E. Rowell
& Mary-Claire King doi:10.1038/ng1294-399 Abstract + references|PDF
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Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancerpp405 - 410 Akseli Hemminki, Päivi Peltomäki, Jukka-Pekka Mecklin, Heikki Järvinen, Reijo Salovaara, Minna Nyström-Lahti, Albert de la Chapelle
& Lauri A. Aaltonen doi:10.1038/ng1294-405 Abstract + references|PDF
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Corrigendum: Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinomap410 doi:10.1038/ng1294-410c PDF
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binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
