Mitochondrial diabetes revisitedpp458 - 459 Scott W. Ballinger, John M. Shoffner, Susan Gebhart, Deborah A. Koontz
& Douglas C. Wallace doi:10.1038/ng0894-458 References|PDF
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CNTF in the embryop460 A. F. Wright
& A. D. Carothers doi:10.1038/ng0894-460a References|PDF
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Reply to "CNTF in the embryo"p460 Ryosuke Takahashi, Hidemi Misawa
& Takeo Deguchi doi:10.1038/ng0894-460b References|PDF
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Bipolar disorder and linkage to Xq28p461 Miron Baron, Richard E. Straub, Thomas Lehner, Jean Endicott, Jurg Ott, T. Conrad Gilliam
& Bernard Lerer doi:10.1038/ng0894-461a References|PDF
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Bipolar disorder and linkage to Xq28pp461 - 462 Elliot S. Gershon
& Lynn R. Goldin doi:10.1038/ng0894-461b References|PDF
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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectspp463 - 471 Tom Glaser, Lisa Jepeal, Janice G. Edwards, S. Robert Young, Jack Favor
& Richard L. Maas doi:10.1038/ng0894-463 Abstract + references|PDF
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A physical map and candidate genes in the BRCA1 region on chromosome 17q12−21pp472 - 479 H.M. Albertsen, S. A. Smith, S. Mazoyer, E. Fujimoto, J. Stevens, B. Williams, P. Rodriguez, C. S. Cropp, P. Slijepcevic, M. Carlson, M. Robertson, P. Bradley, E. Lawrence, T. Harrington, Z. Mei Sheng, R. Hoopes, N. Sternberg, A. Brothman, R. Callahan, B. A. J. Ponder
& Ray White doi:10.1038/ng0894-472 Abstract + references|PDF
(1,351K)
Cooperative tumorigenic effects of germline mutations in Rb and p53pp480 - 484 Bart O. Williams, Lee Remington, Daniel M. Albert, Shizuo Mukai, Roderick T. Bronson
& Tyler Jacks doi:10.1038/ng0894-480 Abstract + references|PDF
(695K)
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemenspp485 - 490 Joseph A. Rothnagel, Heiko Traupe, Sonja Wojcik, Marcel Huber, Daniel Hohl, Mark R. Pittelkow, Hidehisa Saeki, Yasumasa Ishibashi
& Dennis R. Roop doi:10.1038/ng0894-485 Abstract + references|PDF
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The murine Xe169 gene escapes X−inactivation like its human homologuepp491 - 496 Jingshi Wu, Eduardo C. Salido, Pauline H. Yen, Thuluvancheri K. Mohandas, Henry H. Q. Heng, Lap-Chee Tsui, Jonggwang Park, Verne M. Chapman
& Larry J. Shapiro doi:10.1038/ng0894-491 Abstract + references|PDF
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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversalpp497 - 501 B. Bardoni, E. Zanaria, S. Guioli, G. Floridia, K. C. Worley, G. Tonini, E. Ferrante, G. Chiumello, E. R. B. McCabe, M. Fraccaro, O. Zuffardi
& G. Camerino doi:10.1038/ng0894-497 Abstract + references|PDF
(525K)
Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomapp502 - 508 Jeremy Clark, Philippe J. Rocques, A. Jayne Crew, Sandra Gill, Janet Shipley, Andrew M.-L. Chan, Barry A. Gusterson
& Colin S. Cooper doi:10.1038/ng0894-502 Abstract + references|PDF
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A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12−p14.1pp509 - 512 Anne E. Hughes, Valerie E. Newton, Xue Z. Liu
& Andrew P. Read doi:10.1038/ng0894-509 Abstract + references|PDF
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Identification and characterization of the gene causing type 1 spinocerebellar ataxiapp513 - 520 Sandro Banfi, Antonio Servadio, Ming-yi Chung, Thomas J. Kwiatkowski Jr., Alanna E. McCall, Lisa A. Duvick, Ying Shen, Elizabeth J. Roth, Harry T. Orr
& H.Y. Zoghbi doi:10.1038/ng0894-513 Abstract + references|PDF
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The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African−American familypp521 - 524 James R. Burke, Martha S. Wingfield, Karen E. Lewis, Allen D. Roses, James E. Lee, Christine Hulette, Margaret A. Pericak-Vance
& Jeffery M. Vance doi:10.1038/ng0894-521 Abstract + references|PDF
(380K)
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalencepp525 - 530 David C. Rubinsztein, William Amos, Jayne Leggo, Sandy Goodburn, Rajkumar S. Ramesar, John Old, Ronald Bontrop, Robert McMahon, David E. Barton
& Malcolm A. Ferguson-Smith doi:10.1038/ng0894-525 Abstract + references|PDF
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Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor genepp531 - 535 Lin Zhang, Esther P. Leeflang, Jian Yu
& Norman Arnheim doi:10.1038/ng0894-531 Abstract + references|PDF
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Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colonpp536 - 540 Jean-Pierre J. Issa, Yvonne L. Ottaviano, Paul Celano, Stanley R. Hamilton, Nancy E. Davidson
& Stephen B. Baylin doi:10.1038/ng0894-536 Abstract + references|PDF
(571K)
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease genepp541 - 545 Jingshi Wu, John R. Forbes, Hai Shiene Chen
& Diane W. Cox doi:10.1038/ng0894-541 Abstract + references|PDF
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A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1−1q1pp546 - 551 Susan Kass, Calum MacRae, Harry L. Graber, Elizabeth A. Sparks, Dennis McNamara, Harisios Boudoulas, Craig T. Basson, Peter B. Baker III, Robert J. Cody, Mark C. Fishman, Nancy Cox, Augustine Kong, Charles F. Wooley, J.G. Seidman
& Christine E. Seidman doi:10.1038/ng0894-546 Abstract + references|PDF
(688K)
Corrigendum: Heterozygous missense mutation in the rod cGMP phosphodiesterase −subunit gene in autosomal dominant stationary night blindnessp551 doi:10.1038/ng0894-551c PDF
(119K)
−subunit gene in autosomal dominant stationary night blindness
