Language replacement in Scandinaviapp359 - 360 Antti Sajantila
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Microsatellite 'evolution': directionality or bias?pp360 - 362 Hans Ellegren, Craig R. Primmer
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Toulouse−Lautrec's diagnosisp362 Pierre Maroteaux doi:10.1038/ng1295-362 References|PDF
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Reply to "Toulouse−Lautrec's diagnosis"p363 Julia Frey doi:10.1038/ng1295-362 References|PDF
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Informed consent and BRCA1 testingp364 Gail Geller, Barbara A. Bernhardt, Kathy Helzlsouer, Neil A. Holtzman, Michael Stefanek
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The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cellspp369 - 375 Karen B. Avraham, Tama Hasson, Karen P. Steel, David M. Kingsley, Liane B. Russell, Mark S. Mooseker, Neal G. Copeland
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Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutasepp376 - 381 Yibing Li, Ting-Ting Huang, Elaine J. Carlson, Simon Melov, Philip C. Ursell, Jean L. Olson, Linda J. Noble, Midori P. Yoshimura, Christoph Berger, Pak H. Chan, Douglas C. Wallace
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Insensitivity to anti−Müllerian hormone due to a mutation in the human anti−Müllerian hormone receptorpp382 - 388 Sandrine Imbeaud, Emmanuelle Faure, Isabelle Lamarre, Marie-Geneviève Mattéi, Nathalie di Clemente, Richard Tizard, Danièle Carré-Eusèbe, Corinne Belville, Lars Tragethon, Christopher Tonkin, Janice Nelson, Michele McAuliffe, Jean-Michel Bidart, Abdul Lababidi, Nathalie Josso, Richard L. Cate
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A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismpp389 - 394 Chrystal Ho, David A. Conner, Martin R. Pollak, Daniel J. Ladd, Olga Kifor, Henry B. Warren, Edward M. Brown, J.G. Seidman
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The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set−recoding and fuzzy inheritancepp402 - 408 Jeffrey R. O'Connell
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Transforming growth factor−3 is required for secondary palate fusionpp409 - 414 Gabriele Proetzel, Sharon A. Pawlowski, Michael V. Wiles, Moying Yin, Gregory P. Boivin, Philip N. Howles, Jixang Ding, Mark W. J. Ferguson
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Abnormal lung development and cleft palate in mice lacking TGF−3 indicates defects of epithelial−mesenchymal interactionpp415 - 421 Vesa Kaartinen, Jan Willem Voncken, Charles Shuler, David Warburton, Ding Bu, Nora Heisterkamp
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An integrated metric physical map of human chromosome 19pp422 - 427 Linda K. Ashworth, Mark A. Batzer, Brigitte Brandriff, Elbert Branscomb, Pieter de Jong, Emilio Garcia, Jeffrey A. Garnes, Laurie A. Gordon, Jane E. Lamerdin, Greg Lennon, Harvey Mohrenweiser, Anne S. Olsen, Tom Slezak
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Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype−phenotype correlationpp428 - 433 Simon A. Gayther, William Warren, Sylvie Mazoyer, Paul A. Russell, Patricia A. Harrington, Mathias Chiano, Sheila Seal, Rifat Hamoudi, Elizabeth J. van Rensburg, Alison M. Dunning, Richard Love, Gareth Evans, Doug Easton, David Clayton, Michael R. Stratton
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Mutations in the cardiac myosin binding protein−C gene on chromosome 11 cause familial hypertrophic cardiomyopathypp434 - 437 Hugh Watkins, David Conner, Ludwig Thierfelder, John A. Jarcho, Calum MacRae, William J. McKenna, Barry J. Maron, J.G. Seidman
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Cardiac myosin binding protein−C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathypp438 - 440 Gisèle Bonne, Lucie Carrier, Josiane Bercovici, Corinne Cruaud, Pascale Richard, Bernard Hainque, Mathias Gautel, Siegfried Labeit, Michael James, Jacques Beckmann, Jean Weissenbach, Hans-Peter Vosberg, Marc Fiszman, Michel Komajda
& Ketty Schwartz doi:10.1038/ng1295-438 Abstract + references|PDF
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Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12−q13: evidence for its role as a tumour suppressor genepp441 - 443 Patrick J. Biggs, Richard Wooster, Deborah Ford, Pam Chapman, Jonathon Mangion, Yvette Quirk, Douglas F. Easton, John Burn
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Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataractpp444 - 446 Carole Beaumont, Patricia Leneuve, Isabelle Devaux, Jean-Yves Scoazec, Michel Berthier, Marie-Noelle Loiseau, Bernard Grandchamp
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M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygositypp447 - 449 Angus T. De Souza, Gerald R. Hankins, Mary K. Washington, Terry C. Orton
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A mutation in the mucosal keratin K4 is associated with oral white sponge nevuspp450 - 452 E.L. Rugg, W.H.I. McLean, W.E. Allison, D.P. Lunny, R.I. Macleod, D.H. Felix, E.B. Lane
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Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevuspp453 - 455 Gabriela Richard, Vincenzo De Laurenzi, Biagio Didona, Sherri J. Bale
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Fibrillin−2 (FBN2) mutations result in the Marfan−like disorder, congenital contractural arachnodactylypp456 - 458 Elizabeth A. Putnam, Hui Zhang, Francesco Ramirez
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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2pp459 - 461 Nathaniel H. Robin, George J. Feldman, Adam L. Aronson, Heather F. Mitchell, Rosanna Weksberg, Claire O. Leonard, Barbara K. Burton, Kevin D. Josephson, Renata Laxová, Kyrieckos A. Aleck, Judith E. Allanson, Maria Leine Guion-Almeida, Rick A. Martin, Lawrence G. Leichtman, R. Arlen Price, John M. Opitz
& Maximilian Muenke doi:10.1038/ng1295-459 Abstract + references|PDF
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Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricanspp462 - 464 Gregory A. Meyers, Seth J. Orlow, Ian R. Munro, Kelly A. Przylepa
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Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromepp465 - 467 Hamish S. Scott, Lianne Blanch, Xiao-Hui Guo, Craig Freeman, Annette Orsborn, Elizabeth Baker, Grant R. Sutherland, C. Phillip Morris
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Autosomal recessive retinitis pigmentosa caused by mutations in the subunit of rod cGMP phosphodiesterasepp468 - 471 Sherleen H. Huang, Steven J. Pittler, Xizhong Huang, Luanne Oliveira, Eliot L. Berson
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