Antonarakis SE - Search Results

1

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

2

Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.

Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Mittaz L, et al. Among authors: antonarakis se. Genomics. 1997 Apr 15;41(2):210-7. doi: 10.1006/geno.1997.4655. Genomics. 1997. PMID: 9143496

3

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

4

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.

5

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

6

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.

Guipponi M, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Guipponi M, et al. Among authors: antonarakis se. Cytogenet Cell Genet. 1998;83(3-4):218-20. doi: 10.1159/000015182. Cytogenet Cell Genet. 1998. PMID: 10072581

7

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

8

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.

9

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y.

Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. Chen H, et al. Among authors: antonarakis se. Hum Genet. 1999 Nov;105(5):399-409. doi: 10.1007/s004390051122. Hum Genet. 1999. PMID: 10598804

10

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.

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