Antonarakis SE - Search Results

1

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

Chrast R, Scott HS, Madani R, Huber L, Wolfer DP, Prinz M, Aguzzi A, Lipp HP, Antonarakis SE. Chrast R, et al. Among authors: antonarakis se. Hum Mol Genet. 2000 Jul 22;9(12):1853-64. doi: 10.1093/hmg/9.12.1853. Hum Mol Genet. 2000. PMID: 10915774 Free article.

2

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.

Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Scott HS, et al. Among authors: antonarakis se. Hum Genet. 1997 May;99(5):616-23. doi: 10.1007/s004390050416. Hum Genet. 1997. PMID: 9150728

3

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.

Mittaz L, Antonarakis SE, Higuchi M, Scott HS. Mittaz L, et al. Among authors: antonarakis se. Hum Genet. 1997 Sep;100(3-4):398-400. doi: 10.1007/s004390050523. Hum Genet. 1997. PMID: 9272162

4

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

Lalioti MD, Scott HS, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Hum Mol Genet. 1999 Sep;8(9):1791-8. doi: 10.1093/hmg/8.9.1791. Hum Mol Genet. 1999. PMID: 10441345

5

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.

Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE. Chrast R, et al. Among authors: antonarakis es, antonarakis se. Genome Res. 2000 Dec;10(12):2006-21. doi: 10.1101/gr.10.12.2006. Genome Res. 2000. PMID: 11116095 Free PMC article.

6

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome.

Antonarakis SE, Lyle R, Chrast R, Scott HS. Antonarakis SE, et al. Brain Res Brain Res Rev. 2001 Oct;36(2-3):265-74. doi: 10.1016/s0165-0173(01)00103-5. Brain Res Brain Res Rev. 2001. PMID: 11690624 Review.

7

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21.

Chrast R, Chen H, Morris MA, Antonarakis SE. Chrast R, et al. Among authors: antonarakis se. Genomics. 1995 Jul 1;28(1):119-22. doi: 10.1006/geno.1995.1117. Genomics. 1995. PMID: 7590737

8

Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.

Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu N, Antonarakis SE. Chrast R, et al. Among authors: antonarakis se. Genome Res. 1997 Jun;7(6):615-24. doi: 10.1101/gr.7.6.615. Genome Res. 1997. PMID: 9199934 Free PMC article.

9

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE. Mehenni H, et al. Among authors: antonarakis se. Am J Hum Genet. 1998 Dec;63(6):1641-50. doi: 10.1086/302159. Am J Hum Genet. 1998. PMID: 9837816 Free PMC article.

10

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.

Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE. Guipponi M, et al. Among authors: antonarakis se. Hum Genet. 1998 Oct;103(4):386-92. doi: 10.1007/s004390050838. Hum Genet. 1998. PMID: 9856478

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