Gene sequence and evolutionary conservation of human SMCYpp128 - 129 Marijo G. Kent-First, Mark Maffitt, Ariege Muallem, Paula Brisco, John Shultz, Steve Ekenberg, Alexander I. Agulnik, Irene Agulnik, Dee Shramm, Barry Bavister, Ahmed Abdul-Mawgood
& John VandeBerg doi:10.1038/ng1096-128 References|PDF
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Nonsense mutation of leptin receptor in the obese spontaneously hypertensive Koletsky ratpp130 - 131 Kazuhiko Takaya, Yoshihiro Ogawa, Junko Hiraoka, Kiminori Hosoda, Yukio Yamori, Kazuwa Nakao
& Richard J. Koletsky doi:10.1038/ng1096-130 References|PDF
(252K)
The importance of being independent: sib pair analysis in diabetespp131 - 132 Mark J. Daly
& Eric S. Lander doi:10.1038/ng1096-131 References|PDF
(216K)
Thresholds and sample sizespp132 - 133 Leonid Kruglyak doi:10.1038/ng1096-132 References|PDF
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The genetical archaeology of the human genomepp135 - 140 Arndt von Haeseler, Antti Sajantila
& Svante Pääbo doi:10.1038/ng1096-135 Abstract + references|PDF
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Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen genepp141 - 145 David C. Whitcomb, Michael C. Gorry, Robert A. Preston, William Furey, Michael J. Sossenheimer, Charles D. Ulrich, Stephen P. Martin, Lawrence K. Gates Jr., Stephen T. Amann, Phillip P. Toskes, Roger Liddle, Kevin McGrath, G. Uomo, J. C. Post
& Garth D. Ehrlich doi:10.1038/ng1096-141 Abstract + references|PDF
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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNApp146 - 151 Jack P. Jenuth, Alan C. Peterson, Katherine Fu
& Eric A. Shoubridge doi:10.1038/ng1096-146 Abstract + references|PDF
(577K)
Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMKpp152 - 156 David B. Simon, Fiona E. Karet, Juan Rodriguez-Soriano, Jahed H. Hamdan, Antonio DiPietro, Howard Trachtman, Sami A. Sanjad
& Richard P. Lifton doi:10.1038/ng1096-152 Abstract + references|PDF
(536K)
The Friedreich's ataxia gene encodes a novel phosphatidylinositol−4−phosphate 5−kinasepp157 - 162 Jaime J. Carvajal, Mark A. Pook, Maria dos Santos, Kit Doudney, Renate Hillermann, Shane Minogue, Robert Williamson, J. Justin Hsuan
& Susan Chamberlain doi:10.1038/ng1096-157 Abstract + references|PDF
(801K)
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN genepp163 - 170 Bärbel Dittrich, Karin Buiting, Bernd Korn, Sarah Rickard, Jessica Buxton, Shinji Saitoh, Robert D. Nicholls, Annemarie Poustka, Andreas Winterpacht, Bernhard Zabel
& Bernhard Horsthemke doi:10.1038/ng1096-163 Abstract + references|PDF
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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromespp174 - 176 Gary A. Bellus, Karin Gaudenz, Elaine H. Zackai, Lome A. Clarke, Jinny Szabo, Clair A. Francomano
& Maximilian Muenke doi:10.1038/ng1096-174 Abstract + references|PDF
(426K)
A novel X−linked gene, DDP, shows mutations in families with deafness (DFN−1), dystonia, mental deficiency and blindnesspp177 - 180 Hong Jin, Melanie May, Lisbeth Tranebjærg, Elaine Kendall, Gumersindo Fontán, John Jackson, S.H. Subramony, Fernando Arena, Herbert Lubs, Stephanie Smith, Roger Stevenson, Charles Schwartz
& David Vetrie doi:10.1038/ng1096-177 Abstract + references|PDF
(624K)
Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31−q33pp181 - 184 Sandrine Marquet, Laurent Abel, Dominique Hillaire, Hélia Dessein, Jorge Kalil, Josué Feingold, Jean Weissenbach
& Alain J. Dessein doi:10.1038/ng1096-181 Abstract + references|PDF
(381K)
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2pp185 - 187 Benjamin B. Roa, Alfred A. Boyd, Kelly Volcik
& C. Sue Richards doi:10.1038/ng1096-185 Abstract + references|PDF
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The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%pp188 - 190 Carole Oddoux, Jeffery P. Struewing, C. Mark Clayton, Susan Neuhausen, Lawrence C. Brody, Michael Kaback, Bruce Haas, Larry Norton, Patrick Borgen, Suresh Jhanwar, David Goldgar, Harry Ostrer
& Kenneth Offit doi:10.1038/ng1096-188 Abstract + references|PDF
(303K)
Mutations in the gene−encoding SERCA1, the fast−twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody diseasepp191 - 194 Alex Odermatt, Peter E. M. Taschner, Vijay K. Khanna, Herman F. M. Busch, George Karpati, Charles K. Jablecki, Martijn H. Breuning
& David H. MacLennan doi:10.1038/ng1096-191 Abstract + references|PDF
(705K)
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the −sarcoglycan genepp195 - 198 Vincenzo Nigro, Eloisa de Sá Moreira, Giulio Piluso, Mariz Vainzof, Angela Belsito, Luisa Politano, Annibale A. Puca, Maria Rita Passos-Bueno
& Mayana Zatz doi:10.1038/ng1096-195 Abstract + references|PDF
(532K)
Two stage genome−wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12pp199 - 202 Jack Satsangi, Miles Parkes, Edouard Louis, Lara Hashimoto, Norihiro Kato, Ken Welsh, Joseph D. Terwilliger, G. Mark Lathrop, John I. Bell
& Derek P. Jewell doi:10.1038/ng1096-199 Abstract + references|PDF
(381K)
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I 1 genepp203 - 205 Struan F. A. Grant, David M. Reid, Glen Blake, Ruth Herd, Ignac Fogelman
& Stuart H. Ralston doi:10.1038/ng1096-203 Abstract + references|PDF
(348K)
Sex−determining genes on mouse autosomes identified by linkage analysis of C57BL/6J−YPOS sex reversal
pp206 - 209 Eva M. Eicher, Linda L. Washburn, Nicholas J. Schork, Barbara K. Lee, Elaine P. Shown, Xiaoling Xu, Robert D. Dredge, M. Todeane Pringle
& David C. Page doi:10.1038/ng1096-206 Abstract + references|PDF
(708K)
Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac developmentpp210 - 213 Michael J. Donovan, Rebecca Hahn, Lino Tessarollo
& Barbara L. Hempstead doi:10.1038/ng1096-210 Abstract + references|PDF
(625K)
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24pp214 - 217 Luba Kalaydjieva, Joachim Hallmayer, David Chandler, Alexey Savov, Amelia Nikolova, Dora Angelicheva, Rosalind H. H. King, Boryana Ishpekova, K. Honeyman, Francesc Calafell, Alexander Shmarov, Julia Petrova, Ivailo Turnev, Anna Hristova, Momchil Moskov, Stella Stancheva, Iva Petkova, Alan H. Bittles, Veneta Georgieva, Lefkos Middleton
& P.K. Thomas doi:10.1038/ng1096-214 Abstract + references|PDF
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Epilepsy and brain abnormalities in mice lacking the Otx1 genepp218 - 222 Dario Acampora, Sylvie Mazan, Virginia Avantaggiato, Paolo Barone, Francesca Tuorto, Yvan Lallemand, Philippe Brûlet
& Antonio Simeone doi:10.1038/ng1096-218 Abstract + references|PDF
(931K)
Selective ablation of differentiated cells permits isolation of embryonic stem cell lines from murine embryos with a non−permissive genetic backgroundpp223 - 226 Jim McWhir, Angelika E. Schnieke, Ray Ansell, Helen Wallace, Alan Colman, Ann R. Scott
& Alexander J. Kind doi:10.1038/ng1096-223 Abstract + references|PDF
(745K)
Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeletonpp227 - 230 Christopher D. Southgate, Athar H. Chishti, Betsy Mitchell, Scott J. Yi
& Jiri Palek doi:10.1038/ng1096-227 Abstract + references|PDF
(616K)
Evidence that a locus for familial psoriasis maps to chromosome 4qpp231 - 233 Deborah Matthews, Lionel Fry, Anne Powles, James Weber, Mark McCarthy, Elizabeth Fisher, Kay Davies
& Robert Williamson doi:10.1038/ng1096-231 Abstract + references|PDF
(279K)
−sarcoglycan gene
1 gene
