Lalioti MD - Search Results

1

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.

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

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

4

Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3.

Lalioti MD, Chen H, Rossier C, Shafaatian R, Reid JD, Antonarakis SE. Lalioti MD, et al. Genomics. 1996 Jul 15;35(2):321-7. doi: 10.1006/geno.1996.0363. Genomics. 1996. PMID: 8661145

5

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping.

Chen H, Chrast R, Rossier C, Morris MA, Lalioti MD, Antonarakis SE. Chen H, et al. Among authors: lalioti md. Genome Res. 1996 Aug;6(8):747-60. doi: 10.1101/gr.6.8.747. Genome Res. 1996. PMID: 8858350 Free article.

6

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.

7

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

8

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

Scott HS, Kyriakou DS, Peterson P, Heino M, Tähtinen M, Krohn K, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Scott HS, et al. Among authors: lalioti md. Genomics. 1998 Jan 1;47(1):64-70. doi: 10.1006/geno.1997.5066. Genomics. 1998. PMID: 9465297

9

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

10

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

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