Lalioti MD - Search Results

1

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. Am J Hum Genet. 1997 Feb;60(2):342-51. Am J Hum Genet. 1997. PMID: 9012407 Free PMC article.

2

The human lanosterol synthase gene maps to chromosome 21q22.3.

Young M, Chen H, Lalioti MD, Antonarakis SE. Young M, et al. Among authors: lalioti md. Hum Genet. 1996 May;97(5):620-4. doi: 10.1007/BF02281872. Hum Genet. 1996. PMID: 8655142

3

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE. Chen H, et al. Among authors: lalioti md. Am J Hum Genet. 1996 Jul;59(1):66-75. Am J Hum Genet. 1996. PMID: 8659545 Free PMC article.

4

The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3.

Lalioti MD, Gos A, Green MR, Rossier C, Morris MA, Antonarakis SE. Lalioti MD, et al. Genomics. 1996 Apr 15;33(2):298-300. doi: 10.1006/geno.1996.0196. Genomics. 1996. PMID: 8660980

5

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. Lalioti MD, et al. Nature. 1997 Apr 24;386(6627):847-51. doi: 10.1038/386847a0. Nature. 1997. PMID: 9126745

6

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: lalioti md. Hum Genet. 1997 May;99(5):616-23. doi: 10.1007/s004390050416. Hum Genet. 1997. PMID: 9150728

7

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. Lalioti MD, et al. Am J Hum Genet. 1998 Apr;62(4):842-7. doi: 10.1086/301798. Am J Hum Genet. 1998. PMID: 9529356 Free PMC article.

8

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: lalioti md. Hum Genet. 1998 Oct;103(4):386-92. doi: 10.1007/s004390050838. Hum Genet. 1998. PMID: 9856478

9

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. Hum Mol Genet. 1999 Sep;8(9):1791-8. doi: 10.1093/hmg/8.9.1791. Hum Mol Genet. 1999. PMID: 10441345

10

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.

Lalioti MD, Antonarakis SE, Scott HS. Lalioti MD, et al. Cytogenet Genome Res. 2003;100(1-4):213-23. doi: 10.1159/000072857. Cytogenet Genome Res. 2003. PMID: 14526183 Review.

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