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Results: 1-25 | 26-31
Results: 1-25/31
A cSNP map and database for human chromosome 21
Authors: Deutsch, S Iseli, C Bucher, P Antonarakis, SE Scott, HS
Citation: S. Deutsch et al., A cSNP map and database for human chromosome 21, GENOME RES, 11(2), 2001, pp. 300-307
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
Authors: Scott, HS Kudoh, J Wattenhofer, M Shibuya, K Berry, A Chrast, R Guipponi, M Wang, J Kawasaki, K Asakawa, S Minoshima, S Younus, F Mehdi, SQ Radhakrishna, U Papasavvas, MP Gehrig, C Rossier, C Korostishevsky, M Gal, A Shimizu, N Bonne-Tamir, B Antonarakis, SE
Citation: Hs. Scott et al., Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness, NAT GENET, 27(1), 2001, pp. 59-63
APECED mutations in the autoimmune regulator (AIRE) gene
Authors: Heino, M Peterson, P Kudoh, J Shimizu, N Antonarakis, SE Scott, HS Krohn, K
Citation: M. Heino et al., APECED mutations in the autoimmune regulator (AIRE) gene, HUM MUTAT, 18(3), 2001, pp. 205-211
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
Authors: Masmoudi, S Antonarakis, SE Schwede, T Ghorbel, AM Gratri, M Pappasavas, MP Drira, M Elgaied-Boutila, A Wattenhofer, M Rossier, C Scott, HS Ayadi, H Guipponi, M
Citation: S. Masmoudi et al., Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness, HUM MUTAT, 18(2), 2001, pp. 101-108
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
Authors: Bartoloni, L Blouin, JL Maiti, AK Sainsbury, A Rossier, C Gehrig, C She, JX Marron, MP Lander, ES Meeks, M Chung, E Armengot, M Jorissen, M Scott, HS Delozier-Blanchet, CD Gardiner, RM Antonarakis, SE
Citation: L. Bartoloni et al., Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia, GENOMICS, 72(1), 2001, pp. 21-33
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
Authors: Wattenhofer, M Shibuya, K Kudoh, J Lyle, R Michaud, J Rossier, C Kawasaki, K Asakawa, S Minoshima, S Berry, A Bonne-Tamir, B Shimizu, N Antonarakis, SE Scott, HS
Citation: M. Wattenhofer et al., Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains, HUM GENET, 108(2), 2001, pp. 140-147
Global transcript expression profiling by Serial analysis of Gene Expression (SAGE)
Authors: Scott, HS Chrast, R
Citation: Hs. Scott et R. Chrast, Global transcript expression profiling by Serial analysis of Gene Expression (SAGE), GENET ENG P, 23, 2001, pp. 201-219
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome
Authors: Antonarakis, SE Lyle, R Chrast, R Scott, HS
Citation: Se. Antonarakis et al., Differential gene expression studies to explore the molecular pathophysiology of Down syndrome, BRAIN RES R, 36(2-3), 2001, pp. 265-274
The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals
Authors: Chrast, R Scott, HS Papasavvas, MP Rossier, C Antonarakis, ES Barras, C Davisson, MT Schmidt, C Estivill, X Dierssen, M Pritchard, M Antonarakis, SE
Citation: R. Chrast et al., The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals, GENOME RES, 10(12), 2000, pp. 2006-2021
Mice trisomic for a bacterial artificial chromosome with the single-minded2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome
Authors: Chrast, R Scott, HS Madani, R Huber, L Wolfer, DP Prinz, M Aguzzi, A Lipp, HP Antonarakis, SE
Citation: R. Chrast et al., Mice trisomic for a bacterial artificial chromosome with the single-minded2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome, HUM MOL GEN, 9(12), 2000, pp. 1853-1864
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency
Authors: Bartoloni, T Wattenhofer, M Kudoh, J Berry, A Shibuya, K Kawasaki, K Wang, J Asakawa, S Talior, I Bonne-Tamir, B Rossier, C Michaud, J McCabe, ERB Minoshima, S Shimizu, N Scott, HS Antonarakis, SE
Citation: T. Bartoloni et al., Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency, GENOMICS, 70(2), 2000, pp. 190-200
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
Authors: Berry, A Scott, HS Kudoh, J Talior, I Korostishevsky, M Wattenhofer, M Guipponi, M Barras, C Rossier, C Shibuya, K Wang, J Kawasaki, K Asakawa, S Minoshima, S Shimizu, N Antonarakis, S Bonne-Tamir, B
Citation: A. Berry et al., 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, GENOMICS, 68(1), 2000, pp. 22-29
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning
Authors: Guipponi, M Brunschwig, K Chamoun, Z Scott, HS Shibuya, K Kudoh, J Delezoide, AL El Samadi, S Chettouh, Z Rossier, C Shimizu, N Mueller, F Delabar, JM Antonarakis, SE
Citation: M. Guipponi et al., C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning, GENOMICS, 68(1), 2000, pp. 30-40
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein
Authors: Michaud, J Kudoh, J Berry, A Bonne-Tamir, B Lalioti, MD Rossier, C Shibuya, K Kawasaki, K Asakawa, S Minoshima, S Shimizu, N Antonarakis, SE Scott, HS
Citation: J. Michaud et al., Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein, GENOMICS, 68(1), 2000, pp. 71-79
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family
Authors: Aapola, U Shibuya, K Scott, HS Ollila, J Vihinen, M Heino, M Shintani, A Kawasaki, K Minoshima, S Krohn, K Antonarakis, SE Shimizu, N Kudoh, J Peterson, P
Citation: U. Aapola et al., Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family, GENOMICS, 65(3), 2000, pp. 293-298
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3
Authors: Scott, HS Antonarakis, SE Mittaz, L Lalioti, MD Younus, F Mohyuddin, A Mehdi, SQ Gal, A
Citation: Hs. Scott et al., Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3, ADV OTO-RH, 56, 2000, pp. 158-163
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
Authors: Pitkanen, J Doucas, V Sternsdorf, T Nakajima, T Aratani, S Jensen, K Will, H Vahamurto, P Ollila, J Vihinen, M Scott, HS Antonarakis, SE Kudoh, J Shimizu, N Krohn, K Peterson, P
Citation: J. Pitkanen et al., The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein, J BIOL CHEM, 275(22), 2000, pp. 16802-16809
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
Authors: Heino, M Peterson, P Sillanpaa, N Guerin, S Wu, L Anderson, G Scott, HS Antonarakis, SE Kudoh, J Shimizu, N Jenkinson, EJ Naquet, P Krohn, KJE
Citation: M. Heino et al., RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse, EUR J IMMUN, 30(7), 2000, pp. 1884-1893
The purification of dilute CO2/air solutions with an annular bed adsorber:numerical and experimental investigations
Authors: Tierney, MJ Scott, HS Erb, T Prasertmanukitch, S
Citation: Mj. Tierney et al., The purification of dilute CO2/air solutions with an annular bed adsorber:numerical and experimental investigations, SEP PURIF T, 17(2), 1999, pp. 159-171
Mutation analyses of North American APS-1 patients
Authors: Heino, M Scott, HS Chen, QY Peterson, P Maenpaa, U Papasavvas, MP Mittaz, L Barras, C Rossier, C Chrousos, GP Stratakis, CA Nagamine, K Kudoh, J Shimizu, N Maclaren, N Antonarakis, SE Krohn, K
Citation: M. Heino et al., Mutation analyses of North American APS-1 patients, HUM MUTAT, 13(1), 1999, pp. 69-74
Altered spacing of promoter elements due to the dodecamer repeat expansioncontributes to reduced expression of the cystatin B gene in EPM1
Authors: Lalioti, MD Scott, HS Antonarakis, SE
Citation: Md. Lalioti et al., Altered spacing of promoter elements due to the dodecamer repeat expansioncontributes to reduced expression of the cystatin B gene in EPM1, HUM MOL GEN, 8(9), 1999, pp. 1791-1798
Linearization and purification of BAC DNA for the development of transgenic mice
Authors: Chrast, R Scott, HS Antonarakis, SE
Citation: R. Chrast et al., Linearization and purification of BAC DNA for the development of transgenic mice, TRANSGEN RE, 8(2), 1999, pp. 147-150
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
Authors: Chen, HM Rossier, C Morris, MA Scott, HS Gos, A Bairoch, A Antonarakis, SE
Citation: Hm. Chen et al., 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, HUM GENET, 105(5), 1999, pp. 399-409
Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)
Authors: Roessler, E Mittaz, L Du, YZ Scott, HS Chang, J Rossier, C Guipponi, M Matsuda, SPT Muenke, M Antonarakis, SE
Citation: E. Roessler et al., Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1), HUM GENET, 105(5), 1999, pp. 489-495
Autoimmune regulator is expressed in the cells regulating immune tolerancein thymus medulla
Authors: Heino, M Peterson, P Kudoh, J Nagamine, K Lagerstedt, A Ovod, V Ranki, A Rantala, I Nieminen, M Tuukkanen, J Scott, HS Antonarakis, SE Shimizu, N Krohn, K
Citation: M. Heino et al., Autoimmune regulator is expressed in the cells regulating immune tolerancein thymus medulla, BIOC BIOP R, 257(3), 1999, pp. 821-825
Risultati: 1-25 | 26-31