Sibling rivalry, arrested development and chromosomal mayhem
pp9 - 10 Stephen H. Friend
& Stephen J. Tapscott doi:10.1038/ng0598-9 References|PDF
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The politics of germline therapypp10 - 11 Andrea L. Bonnicksen doi:10.1038/ng0598-10 References|PDF
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The kinetics of rAAV integration in the liverpp13 - 15 Carol H. Miao, Richard O. Snyder, David B. Schowalter, Gijsbert A. Patijn, Brian Donahue, Brian Winther
& Mark A. Kay doi:10.1038/ng0598-13 References|PDF
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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcriptpp15 - 16 Claire Rougeulle, Carlos Cardoso, Michel Fontés, Laurence Colleaux
& Marc Lalande doi:10.1038/ng0598-15 References|PDF
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HNPCC associated with germline mutation in the TGF- type II receptor genepp17 - 18 Shi-Long Lu, Masahiro Kawabata, Takeshi Imamura, Yoshimitsu Akiyama, Tadashi Nomizu, Kohei Miyazono
& Yasuhito Yuasa doi:10.1038/ng0598-17 References|PDF
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The impact of L1 retrotransposons on the human genomepp19 - 24 Haig H. Kazazian Jr
& John V. Moran doi:10.1038/ng0598-19 Abstract + references|PDF
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A mouse model for Prader-Willi syndrome imprinting-centre mutationspp25 - 31 Tao Yang, Todd E. Adamson, James L. Resnick, Stuart Leff, Rachel Wevrick, Uta Francke, Nancy A. Jenkins, Neal G. Copeland
& Camilynn I. Brannan doi:10.1038/ng0598-25 Abstract + references|PDF
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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionspp32 - 38 Nina S. Heiss, Stuart W. Knight, Tom J. Vulliamy, Sabine M. Klauck, Stefan Wiemann, Philip J. Mason, Annemarie Poustka
& Inderjeet Dokal doi:10.1038/ng0598-32 Abstract + references|PDF
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Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrestpp39 - 46 Leslie Smith, Shu Jing Liu, Lisa Goodrich, David Jacobson, Catherine Degnin, Nicole Bentley, Antony Carr, Gail Flaggs, Kathleen Keegan, Merl Hoekstra
& Mathew J. Thayer doi:10.1038/ng0598-39 Abstract + references|PDF
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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndromepp47 - 50 Sandra D. Dreyer, Guang Zhou, Antonio Baldini, Andreas Winterpacht, Bernhard Zabel, William Cole, Randy L. Johnson
& Brendan Lee doi:10.1038/ng0598-47 Abstract + references|PDF
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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromepp51 - 55 Haixu Chen, Yi Lun, Dmitry Ovchinnikov, Hiroki Kokubo, Kerby C. Oberg, Carmen V. Pepicelli, Lin Can, Brendan Lee
& Randy L. Johnson doi:10.1038/ng0598-51 Abstract + references|PDF
(821K)
Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodiespp56 - 59 Marina Botto, Chiara Dell' Agnola, Anne E. Bygrave, E. Mary Thompson, H. Terence Cook, Franz Petry, Michael Loos, Pier Paolo Pandolfi
& Mark J. Walport doi:10.1038/ng0598-56 Abstract + references|PDF
(598K)
Mutations in the human -tectorin gene cause autosomal dominant non-syndromic hearing impairmentpp60 - 62 Kristien Verhoeven, Lut Van Laer, Karin Kirschhofer, P. Kevin Legan, David C. Hughes, Isabelle Schatteman, Margriet Verstreken, Peter Van Hauwe, Paul Coucke, Achih Chen, Richard J.H. Smith, Thomas Somers, F. Erwin Offeciers, Paul Van de Heyning, Guy P. Richardson, Franz Wachtler, William J. Kimberling, Patrick J. Willems, Paul J. Govaerts
& Guy Van Camp doi:10.1038/ng0598-60 Abstract + references|PDF
(585K)
SMN oligomerization defect correlates with spinal muscular atrophy severitypp63 - 66 Christian L. Lorson, John Strasswimmer, Jun-Mei Yao, James D. Baleja, Eric Hahnen, Brunhilde Wirth, Thanh Le, Arthur H.M. Burghes
& Elliot J. Androphy doi:10.1038/ng0598-63 Abstract + references|PDF
(543K)
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
pp67 - 69 Valérie Belin, Veronica Cusin, Géraldine Viot, Delphine Girlich, Annick Toutain, Anne Moncla, Michel Vekemans, Martine Le Merrer, Arnold Munnich
& Valérie Cormier-Daire doi:10.1038/ng0198-67 Abstract + references|PDF
(397K)
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosispp70 - 73 Deborah J. Shears, Humberto J. Vassal, Frances R. Goodman, Rodger W. Palmer, William Reardon, Andrea Superti-Furga, Peter J. Scambler
& Robin M. Winter doi:10.1038/ng0198-70 Abstract + references|PDF
(453K)
Human deltex is a conserved regulator of Notch signallingpp74 - 78 Kenji Matsuno, Deborah Eastman, Tim Mitsiades, Anne Marie Quinn, Maria Louisa Carcanciu, Peter Ordentlich, Tom Kadesch
& Spyros Artavanis-Tsakonas doi:10.1038/ng0598-74 Abstract + references|PDF
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Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient micepp79 - 82 Jill A. Rafael, Jonathon M. Tinsley, Allyson C. Potter, Anne E. Deconinck
& Kay E. Davies doi:10.1038/ng0598-79 Abstract + references|PDF
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PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesispp83 - 86 Paolo Emidio Macchia, Paola Lapi, Heiko Krude, Maria Teresa Pirro, Caterina Missero, Luca Chiovato, Abdallah Souabni, Mariangiola Baserga, Vittorio Tassi, Aldo Pinchera, Gianfranco Fenzi, Annette Grüters, Meinrad Busslinger
& Roberto Di Lauro doi:10.1038/ng0598-83 Abstract + references|PDF
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Follicular cells of the thyroid gland require Pax8 gene functionpp87 - 90 Ahmed Mansouri, Kamal Chowdhury
& Peter Gruss doi:10.1038/ng0598-87 Abstract + references|PDF
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Correction of disease-causing CBS mutations in yeastpp91 - 93 Xiaoyin Shan
& Warren D. Kruger doi:10.1038/ng0598-91 Abstract + references|PDF
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Mutations in the integrin 7 gene cause congenital myopathypp94 - 97 Yukiko K. Hayashi, Fan-Li Chou, Eva Engvall, Megumu Ogawa, Chie Matsuda, Shinichi Hirabayashi, Kenji Yokochi, Barry L. Ziober, Randall H. Kramer, Stephen J. Kaufman, Eijiro Ozawa, Yu-ichi Goto, Ikuya Nonaka, Toshifumi Tsukahara, Jian-zhou Wang, Eric P. Hoffman
& Kiichi Arahata doi:10.1038/ng0598-94 Abstract + references|PDF
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Association of the INS VNTR with size at birthpp98 - 100 David B. Dunger, Ken K.L. Ong, Stewart J. Huxtable, Andrea Sherriff, Kathryn A. Woods, Marion L. Ahmed, Jean Golding, Marcus E. Pembrey, Sue Ring, , Simon T. Bennett
& John A. Todd doi:10.1038/ng0598-98 Abstract + references|PDF
(374K)
type II receptor gene
-tectorin gene cause autosomal dominant non-syndromic hearing impairment
