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 TitleAuthors / EditorsDate
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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele 2000
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Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1999
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Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) Scott, Hamish Steele; Antonarakis, Stylianos; Lalioti, M. D.; Rossier, Colette; ... Henry, M. F. 1998
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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos 1998
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Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos 1998
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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, Michel; Scott, Hamish Steele; Kudoh, J.; Kawasaki, K.; ... Antonarakis, Stylianos 1998
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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, M. D.; Scott, Hamish Steele; Genton, P.; Grid, D.; ... Antonarakis, Stylianos 1998
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Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 Scott, Hamish Steele; Chen, H.; Rossier, Colette; Lalioti, M. D.; Antonarakis, Stylianos 1997
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos 1997
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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The human lanosterol synthase gene maps to chromosome 21q22.3 Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, Stylianos 1996
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Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 Lalioti, M. D.; Chen, H.; Rossier, Colette; Shafaatian, R.; ... Antonarakis, Stylianos 1996
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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, M. D.; Gos, A.; Green, M. R.; Rossier, Colette; ... Antonarakis, Stylianos 1996
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Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping Chen, H.; Chrast, R.; Rossier, Colette; Morris, Michael Andréw; ... Antonarakis, Stylianos 1996
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996