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	Title	Authors / Editors	Date
unige:9001	A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos	1998
unige:8723	A cSNP map and database for human chromosome 21	Deutsch, Samuel; Iseli, C.; Bucher, P.; Antonarakis, Stylianos; Scott, Hamish Steele	2001
unige:8848	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
unige:8681	A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y	Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos	1999
unige:8818	Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype	Hubert, F. X.; Kinkel, S. A.; Crewther, P. E.; Cannon, P. Z.; ... Scott, Hamish Steele	2009
unige:8846	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
unige:19112	An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss	Guipponi, Michel; Toh, Min-Yen; Tan, Justin; Park, Daeho; ... Scott, Hamish Steele	2008
unige:8798	APECED mutations in the autoimmune regulator (AIRE) gene	Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; ... Krohn, K.	2001
unige:8964	APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J.	1998
unige:1443	Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity	Irla, Magali; Hugues, Stéphanie; Gill, Jason; Nitta, Takeshi; ... Reith, Walter	2008
unige:8797	Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla	Heino, M.; Peterson, P.; Kudoh, J.; Nagamine, K.; ... Krohn, K.	1999
unige:8625	Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos	2001
unige:8771	C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos	2000
unige:9030	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
unige:8627	Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency	Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos	2000
unige:8906	Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Mittaz, L.; Scott, Hamish Steele; Rossier, Colette; Seeburg, P. H.; ... Antonarakis, Stylianos	1997
unige:8686	Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region	Chrast, R.; Scott, Hamish Steele; Chen, H.; Kudoh, J.; ... Antonarakis, Stylianos	1997
unige:9028	Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos	1998
unige:8852	Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3	Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C.	1998
unige:8610	Differential gene expression studies to explore the molecular pathophysiology of Down syndrome	Antonarakis, Stylianos; Lyle, Robert; Chrast, R.; Scott, Hamish Steele	2001
unige:8847	Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos	1997
unige:8773	Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2	Guipponi, Michel; Scott, Hamish Steele; Hattori, M.; Ishii, K.; ... Antonarakis, Stylianos	1998
unige:9099	Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee	White, J. A.; McAlpine, P. J.; Antonarakis, Stylianos; Cann, H.; ... Povey, S.	1997
unige:8774	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
unige:9026	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
unige:8747	Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre	2003
unige:8838	Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3	Krohn, K.; Ovod, V.; Vilja, P.; Heino, M.; ... Peterson, P.	1997
unige:8900	In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis	Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele	2002
unige:9029	Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos	2001
unige:8899	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
unige:8905	Isolation and characterization of the mouse Aire gene	Mittaz, L.; Rossier, Colette; Heino, M.; Peterson, P.; ... Scott, Hamish Steele	1999
unige:9095	Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains	Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele	2001
unige:8593	Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family	Aapola, Ulla; Kawasaki, K.; Scott, Hamish Steele; Ollila, J.; ... Peterson, P.	2000
unige:9027	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
unige:8893	Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel	2004
unige:8685	Linearization and purification of BAC DNA for the development of transgenic mice	Chrast, R.; Scott, Hamish Steele; Antonarakis, Stylianos	1999
unige:8904	Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15	Mittaz, L.; Antonarakis, Stylianos; Higuchi, M.; Scott, Hamish Steele	1997
unige:8891	Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos	1998
unige:9096	Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis	Webster, K. E.; O'Bryan, M. K.; Fletcher, Stephen; Crewther, P. E.; ... Scott, Hamish Steele	2005
unige:8687	Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome	Chrast, R.; Scott, Hamish Steele; Madani, Rime; Huber, L.; ... Antonarakis, Stylianos	2000
unige:8800	Mutation analyses of North American APS-1 patients	Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K.	1999
unige:9092	Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos	2002
unige:8888	Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel	2001
unige:8638	Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness	Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J.	2001
unige:8918	Positional cloning of the APECED gene	Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N.	1997
unige:9259	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
unige:8639	Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region	Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B.	2000
unige:8799	RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse	Heino, M.; Peterson, P.; Sillanpaa, N.; Guerin, S.; ... Krohn, K. J.	2000
unige:20983	SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology	Guipponi, Michel; Li, Qiao-Xin; Hyde, Lavinia; Beissbarth, Tim; ... Scott, Hamish Steele	2010
unige:9000	Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos	1999

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