Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata (English)
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- New search for: Derry, Jonathan M.J.
- New search for: Gormally, Emmanuelle
- New search for: Means, Gary D.
- New search for: Zhao, Wei
- New search for: Meindl, Alfons
- New search for: Kelley, Richard I.
- New search for: Boyd, Yvonne
- New search for: Herman, Gail E.
- New search for: Derry, Jonathan M.J.
- New search for: Gormally, Emmanuelle
- New search for: Means, Gary D.
- New search for: Zhao, Wei
- New search for: Meindl, Alfons
- New search for: Kelley, Richard I.
- New search for: Boyd, Yvonne
- New search for: Herman, Gail E.
In:
Nature Genetics
;
22
, 3
;
286-290
;
1999
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
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Contributors:Derry, Jonathan M.J. ( author ) / Gormally, Emmanuelle ( author ) / Means, Gary D. ( author ) / Zhao, Wei ( author ) / Meindl, Alfons ( author ) / Kelley, Richard I. ( author ) / Boyd, Yvonne ( author ) / Herman, Gail E. ( author )
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Published in:Nature Genetics ; 22, 3 ; 286-290
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Publisher:
- New search for: Nature America Inc.
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Publication date:1999-07-01
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Size:5 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 22, Issue 3
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 211
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Array data go public| 1999
- 213
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Data analysis and integration: of steps and arrowsBittner, Michael / Meltzer, Paul / Trent, Jeffrey et al. | 1999
- 215
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Architectural regulations and Hmg1Wolffe, Alan P et al. | 1999
- 217
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Clocks, criteria and critical genesFoster, Russell G / Lucas, Robert J et al. | 1999
- 219
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The weed paves the wayGibbs, Richard A et al. | 1999
- 221
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Touching base| 1999
- 223
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The candidate spermatogenesis gene RBMY has a homologue on the human X chromosomeDelbridge, Margaret L. / Lingenfelter, Patricia A. / Disteche, Christine M. / Graves, Jennifer A. Marshall et al. | 1999
- 224
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RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical geneMazeyrat, Sophie / Saut, Noëmie / Mattei, Marie-Geneviève / Mitchell, Michael J. et al. | 1999
- 226
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Absence of Cd36 mutation in the original spontaneously hypertensive rats with insulin resistanceGotoda, Takanari / Iizuka, Yoko / Kato, Norihiro / Osuga, Jun-ichi / Bihoreau, Marie-Therese / Murakami, Toru / Yamori, Yukio / Shimano, Hitoshi / Ishibashi, Shun / Yamada, Nobuhiro et al. | 1999
- 229
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The flower, the gene, the brain and the creative processAltaba, Ariel Ruiz i et al. | 1999
- 231
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Characterization of single-nucleotide polymorphisms in coding regions of human genesCargill, Michele / Altshuler, David / Ireland, James / Sklar, Pamela / Ardlie, Kristin / Patil, Nila / Lane, Charles R. / Lim, Esther P. / Kalyanaraman, Nilesh / Nemesh, James et al. | 1999
- 239
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Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasisHalushka, Marc K. / Fan, Jian-Bing / Bentley, Kimberly / Hsie, Linda / Shen, Naiping / Weder, Alan / Cooper, Richard / Lipshutz, Robert / Chakravarti, Aravinda et al. | 1999
- 248
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Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosaPierce, Eric A. / Quinn, Tracey / Meehan, Terrence / McGee, Terri L. / Berson, Eliot L. / Dryja, Thaddeus P. et al. | 1999
- 255
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Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosaSullivan, Lori S. / Heckenlively, John R. / Bowne, Sara J. / Zuo, Jian / Hide, Winston A. / Gal, Andreas / Denton, Michael / Inglehearn, Chris F. / Blanton, Susan H. / Daiger, Stephen P. et al. | 1999
- 260
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Regulation of anterior/posterior patterning of the axial skeleton by growth/differentiation factor 11McPherron, Alexandra C. / Lawler, Ann M. / Lee, Se-Jin et al. | 1999
- 265
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A map for sequence analysis of the Arabidopsis thaliana genomeMarra, Marco / Kucaba, Tamara / Sekhon, Mandeep / Hillier, LaDeana / Martienssen, Robert / Chinwalla, Asif / Crockett, Jye'mon / Fedele, Jacqueline / Grover, Heather / Gund, Christopher et al. | 1999
- 271
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A complete BAC-based physical map of the Arabidopsis thaliana genomeMozo, Teresa / Dewar, Ken / Dunn, Pat / Ecker, Joseph R. / Fischer, Sabine / Kloska, Sebastian / Lehrach, Hans / Marra, Marco / Martienssen, Robert / Meier-Ewert, Sebastian et al. | 1999
- 276
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The lack of chromosomal protein Hmg1 does not disrupt cell growth but causes lethal hypoglycaemia in newborn miceCalogero, Sabina / Grassi, Fabio / Aguzzi, Adriano / Voigtländer, Till / Ferrier, Pierre / Ferrari, Simona / Bianchi, Marco E. et al. | 1999
- 281
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Systematic determination of genetic network architectureTavazoie, Saeed / Hughes, Jason D. / Campbell, Michael J. / Cho, Raymond J. / Church, George M. et al. | 1999
- 286
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Mutations in a delta8-delta7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctataDerry, J. M. J. / Gormally, E. / Means, G. D. / Zhao, W. / Meindl, A. / Kelley, R. I. / Boyd, Y. / Herman, G. E. et al. | 1999
- 286
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Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctataDerry, Jonathan M.J. / Gormally, Emmanuelle / Means, Gary D. / Zhao, Wei / Meindl, Alfons / Kelley, Richard I. / Boyd, Yvonne / Herman, Gail E. et al. | 1999
- 291
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Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndromeBraverman, Nancy / Lin, Paul / Moebius, Fabian F. / Obie, Cassandra / Moser, Ann / Glossmann, Hartmut / Wilcox, William R. / Rimoin, David L. / Smith, Moyra / Kratz, Lisa et al. | 1999
- 291
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Mutations in the gene encoding 3-hydroxysteroid-delta8,delta7-isomerase cause X-linked dominant Conradi-Huenermann syndromeBraverman, N. / Lin, P. / Moebius, F. F. / Obie, C. / Moser, A. / Glossmann, H. / Wilcox, W. R. / Rimoin, D. L. / Smith, M. / Kratz, L. et al. | 1999
- 295
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Cryptorchidism in mice mutant for Insl3Nef, Serge / Parada, Luis F. et al. | 1999
- 300
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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafnessLabay, Valentina / Raz, Tal / Baron, Dana / Mandel, Hanna / Williams, Hawys / Barrett, Timothy / Szargel, Raymonde / McDonald, Louise / Shalata, Adel / Nosaka, Kazuto et al. | 1999
- 305
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The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporterFleming, Judith C. / Tartaglini, Elena / Steinkamp, Mara P. / Schorderet, Daniel F. / Cohen, Nadine / Neufeld, Ellis J. et al. | 1999
- 309
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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndromeDiaz, George A. / Banikazemi, Maryam / Oishi, Kimihiko / Desnick, Robert J. / Gelb, Bruce D. et al. | 1999