Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences (English)
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In:
Nature Genetics
;
8
, 3
;
256-263
;
1994
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
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Contributors:Steingrímsson, Eiríkur ( author ) / Moore, Karen J. ( author ) / Lamoreux, M. Lynn ( author ) / Ferré-D'Amaré, Adrian R. ( author ) / Burley, Stephen K. ( author ) / Sanders Zimring, Debra C. ( author ) / Skow, Loren C. ( author ) / Hodgkinson, Colin A. ( author ) / Arnheiter, Heinz ( author ) / Copeland, Neal G. ( author )
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Published in:Nature Genetics ; 8, 3 ; 256-263
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Publisher:
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Publication date:1994-11-01
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Size:8 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 8, 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.
- 205
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Anastasia and the tools of justice| 1994
- 207
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Co-factor insufficiency in Dystonia-Parkinsonian syndromeOzelius, Laurie J. / Breakefield, Xandra O. et al. | 1994
- 209
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Manifestations of microphthalmiaJackson, Ian J. / Raymond, Sophie et al. | 1994
- 211
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Genome linkage scanning: systematic or intelligent?Antonarakis, Stylianos E. et al. | 1994
- 213
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Dynamic mutations hit double figuresWillems, Patrick J. et al. | 1994
- 216
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Age of the ΔF508 cystic fibrosis mutationKaplan, N. L. / Lewis, P. O. / Weir, B. S. et al. | 1994
- 216
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Reply to — Age of the ΔF508 cystic fibrosis mutationEstivill, Xavier / Morral, Núria / Bertranpetit, Jaume et al. | 1994
- 218
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Screening for truncated NF1 proteinsHeim, Ruth A. / Silverman, Lawrence M. / Farber, Rosann A. / Kam-Morgan, Lauren N.W. / Luce, Michael C. et al. | 1994
- 219
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Redundant genes?Hochgeschwender, Ute / Brennan, Miles B. et al. | 1994
- 221
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Kawaguchi, Yoshiya / Okamoto, Toshihiro / Taniwaki, Masafumi / Aizawa, Megumi / Inoue, Miho / Katayama, Sadao / Kawakami, Hideshi / Nakamura, Shigenobu / Nishimura, Masaki / Akiguchi, Ichiro et al. | 1994
- 229
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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXEParrish, Julia E. / Oostra, Ben A. / Verkerk, Annemieke J.M.H. / Richards, C. Sue / Reynolds, James / Spikes, Aimee S. / Shaffer, Lisa G. / Nelson, David L. et al. | 1994
- 236
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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I geneIchinose, Hiroshi / Ohye, Tamae / Takahashi, Ei-ichi / Seki, Naohiko / Hori, Tada-aki / Segawa, Masaya / Nomura, Yoshiko / Endo, Kotaro / Tanaka, Hajime / Tsuji, Shoji et al. | 1994
- 243
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Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotypeLahn, Bruce T. / Ma, Nancy / Breg, W. Roy / Stratton, Robert / Surti, Urvashi / Page, David C. et al. | 1994
- 251
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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) geneTassabehji, Mayada / Newton, Valeria E. / Read, Andrew P. et al. | 1994
- 256
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Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequencesSteingrímsson, Eiríkur / Moore, Karen J. / Lamoreux, M. Lynn / Ferré-D'Amaré, Adrian R. / Burley, Stephen K. / Sanders Zimring, Debra C. / Skow, Loren C. / Hodgkinson, Colin A. / Arnheiter, Heinz / Copeland, Neal G. et al. | 1994
- 264
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A second locus for Marfan syndrome maps to chromosome 3p24.2–p25Collod, Gwenaëlle / Babron, Marie-Claude / Jondeau, Guillaume / Coulon, Monique / Weissenbach, Jean / Dubourg, Olivier / Bourdarias, Jean-Pierre / Bonaïti-Pellié, Catherine / Junien, Claudine / Boileau, Catherine et al. | 1994
- 269
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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeMuenke, Maximilian / Schell, Ute / Hehr, Andreas / Robin, Nathaniel H. / Losken, H. Wolfgang / Schinzel, Albert / Pulleyn, Louise J. / Rutland, Paul / Reardon, William / Malcolm, Sue et al. | 1994
- 275
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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2Jabs, Ethylin Wang / Li, Xiang / Scott, Alan F. / Meyers, Gregory / Chen, Wendy / Eccles, Michael / Mao, Jen-i / Charnas, Lawrence R. / Jackson, Charles E. / Jaye, Michael et al. | 1994
- 280
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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11Ranum, Laura P.W. / Schut, Lawrence J. / Lundgren, Julie K. / Orr, Harry T. / Livingston, Dennis M. et al. | 1994
- 285
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PBDX is the XG blood group geneEllis, Nathan A. / Tippett, Patricia / Petty, Alison / Reid, Marion / Weller, Polly A. / Ye, Tian Z. / German, James / Goodfellow, Peter N. / Thomas, Stephen / Banting, George et al. | 1994
- 291
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A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3Straub, Richard E. / Lehner, Thomas / Luo, Ying / Loth, Jo Ellen / Shao, Wei / Sharpe, Lawrence / Alexander, Joyce R. / Das, Kamna / Simon, Robert / Fieve, Ronald R. et al. | 1994
- 297
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Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) geneXu, Hong / Wu, Xiao-Rong / Wewer, Ulla M. / Engvall, Eva et al. | 1994
- 303
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Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutationPollak, Martin R. / Brown, Edward M. / Estep, Herschel L. / McLaine, Peter N. / Kifor, Olga / Park, Ji / Hebert, Steven C. / Seidman, Christine E. / Seidman, J. G. et al. | 1994