| 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 |