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ARTICLE: Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse
- Weimin Bi,
- Jiong Yan,
- Paweł Stankiewicz,
- Sung-Sup Park,
- Katherina Walz,
- Cornelius F. Boerkoel,
- Lorraine Potocki,
- Lisa G. Shaffer,
- Koen Devriendt,
- Małgorzata J.M. Nowaczyk,
- Ken Inoue,
- and James R. Lupski
Genome Res. May 1, 2002 12: 713-728; doi:10.1101/gr.73702
..., renal anomalies, and mental retardation are still unknown ( Ewart et al. 1993 ). Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by lissencephaly and facial abnormalities ( Dobyns et al. 1984 ). LIS1 , the gene inside the MDS critical region, encodes a subunit of the brain...
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ARTICLE: Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences.
- W Makałowski,
- J Zhang,
- and M S Boguski
Genome Res. September 1996 6: 846-857; doi:10.1101/gr.6.9.846
...disease Miller-Dieker lissencephaly Multiple endocrine neoplasia 2A Myotonic dystrophy Neurofibromatosis type 1 Neurofibromatosis type 2 Norrie disease Retinoblastoma Thomsen disease vonHippebLindau syndrome 93.8 93.4 90.6 83.8 99.3 57.2 81.7 72.4 78.5 80.9 86.9 96.6 97.3 41.6 73.4 92.5 91.18 97.8 84.4 99...

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