Antonarakis SE - Search Results

1

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE. Maiti AK, et al. Among authors: antonarakis se. Cytogenet Cell Genet. 2000;90(1-2):119-22. doi: 10.1159/000015645. Cytogenet Cell Genet. 2000. PMID: 11060460

2

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping.

Bartoloni L, Blouin J, Sainsbury AJ, Gos A, Morris MA, Affara NA, DeLozier-Blanchet CD, Antonarakis SE. Bartoloni L, et al. Among authors: antonarakis se. Cytogenet Cell Genet. 1999;84(3-4):188-9. doi: 10.1159/000015254. Cytogenet Cell Genet. 1999. PMID: 10393427 No abstract available.

3

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.

Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Eur J Hum Genet. 2000 Feb;8(2):109-18. doi: 10.1038/sj.ejhg.5200429. Eur J Hum Genet. 2000. PMID: 10757642

4

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE. Bartoloni L, et al. Among authors: antonarakis se. Genomics. 2001 Feb 15;72(1):21-33. doi: 10.1006/geno.2000.6462. Genomics. 2001. PMID: 11247663

5

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2.

Chen H, Morris MA, Rossier C, Blouin JL, Antonarakis SE. Chen H, et al. Among authors: antonarakis se. Genomics. 1995 Aug 10;28(3):470-6. doi: 10.1006/geno.1995.1176. Genomics. 1995. PMID: 7490082

6

Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.

Hutter P, Antonarakis SE, Delozier-Blanchet CD, Morris MA. Hutter P, et al. Among authors: antonarakis se. Hum Mol Genet. 1994 Apr;3(4):663-5. doi: 10.1093/hmg/3.4.663. Hum Mol Genet. 1994. PMID: 8069315 No abstract available.

7

Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2.

Chen H, Rossier C, Antonarakis SE. Chen H, et al. Among authors: antonarakis se. Genomics. 1996 Nov 15;38(1):30-7. doi: 10.1006/geno.1996.0588. Genomics. 1996. PMID: 8954776

8

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Am J Hum Genet. 1997 Feb;60(2):342-51. Am J Hum Genet. 1997. PMID: 9012407 Free PMC article.

9

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

10

Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.

Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Hum Genet. 1998 Mar;102(3):282-8. doi: 10.1007/s004390050692. Hum Genet. 1998. PMID: 9544839

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