Positional cloning of the APECED gene von Nagamine, Kentaro, Peterson, Pärt, Scott, Hamish S, Kudoh, Jun, Minoshima, Shinsei, Heino, Maarit, Krohn, Kai J. E, Lalioti, Maria D, Mullis, Primus E, Antonarakis, Stylianos E, Kawasaki, Kazuhiko, Asakawa, Shuichi, Ito, Fumiaki, Shimizu, Nobuyoshi

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High rate of biological loss in assisted reproduction: it is in the seed, not in the soil von Patrizio, P, Bianchi, V, Lalioti, MD, Gerasimova, T, Sakkas, D

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy von Lalioti, Maria D, Scott, Hamish S, Buresi, Catherine, Rossier, Colette, Bottani, Armand, Morris, Michael A, Malafosse, Alain, Antonarakis, Stylianos E

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A new method for generating point mutations in bacterial artificial chromosomes by homologous recombination in Escherichia coli von Lalioti, M, Heath, J

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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 von Lalioti, Maria D., Scott, Hamish S., Antonarakis, Stylianos E.

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Identification and Characterization of Two Putative Human Arginine Methyltransferases (HRMT1L1 and HRMT1L2) von Scott, Hamish S., Antonarakis, Stylianos E., Lalioti, Maria D., Rossier, Colette, Silver, Pamela A., Henry, Michael F.

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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 von CHEN, H, ROSSIER, C, LALIOTI, M. D, LYNN, A, CHAKRAVARTI, A, PERRIN, G, ANTONARAKIS, S. E

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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) von LALIOTI, M. D, MIROTSOU, M, BURESI, C, PEITSCH, M. C, ROSSIER, C, OUAZZANI, R, BALDY-MOULINIER, M, BOTTANI, A, MALAFOSSE, A, ANTONARAKIS, S. E

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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion von Lalioti, M.D., Antonarakis, S.E., Scott, H.S.

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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 von Lalioti, Maria D., Scott, Hamish S., Genton, Pierre, Grid, Djamel, Ouazzani, Réda, M'Rabet, Amel, Ibrahim, Sadi, Gouider, Riadh, Dravet, Charlotte, Chkili, Taieb, Bottani, Armand, Buresi, Catherine, Malafosse, Alain, Antonarakis, Stylianos E.

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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 a... von GUIPPONI, M, SCOTT, H. S, MINOSHIMA, S, SHIMIZU, N, ANTONARAKIS, S. E, KUDOH, J, KAWASAKI, K, SHIBUYA, K, SHINTANI, A, ASAKAWA, S, HAIMING CHEN, LALIOTI, M. D, ROSSIER, C

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What is expanded in progressive myoclonus epilepsy? von Lalioti, Maria D, Scott, Hamish S, Antonarakis, Stylianos E

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Interchromosomal associations between alternatively expressed loci von Lee, Gap Ryol, Flavell, Richard A, Lalioti, Maria D, Spilianakis, Charalampos G, Town, Terrence

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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 von Scott, Hamish S., Kyriakou, Despina S., Peterson, Pärt, Heino, Maarit, Tähtinen, Marja, Krohn, Kai, Chen, Haiming, Rossier, Colette, Lalioti, Maria D., Antonarakis, Stylianos E.

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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins von Scott, H S, Heino, M, Peterson, P, Mittaz, L, Lalioti, M D, Betterle, C, Cohen, A, Seri, M, Lerone, M, Romeo, G, Collin, P, Salo, M, Metcalfe, R, Weetman, A, Papasavvas, M P, Rossier, C, Nagamine, K, Kudoh, J, Shimizu, N, Krohn, K J, Antonarakis, S E

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Human embryonic poly(A)-binding protein (EPAB) alternative splicing is differentially regulated in human oocytes and embryos von Guzeloglu-Kayisli, Ozlem, Lalioti, Maria D, Babayev, Elnur, Torrealday, Saioa, Karakaya, Cengiz, Seli, Emre

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High rate of biological loss in assisted reproduction: it is in the seed, not in the soil von Patrizio, P, Bianchi, V, Lalioti, MD, Gerasimova, T, Sakkas, D

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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 von SCOTT, H. S, CHEN, H, ROSSIER, C, LALIOTI, M. D, ANTONARAKIS, S. E

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Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 von LALIOTI, M. D, CHEN, H, ROSSIER, C, SHAFAATIAN, R, REID, J. D, ANTONARAKIS, S. E

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The human lanosterol synthase gene maps to chromosome 21q22.3 von YOUNG, M, CHEN, H, LALIOTI, M. D, ANTONARAKIS, S. E

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