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Results: 1-24 |
Results: 24
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
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
From PREDs and open reading frames to cDNA isolation: Revisiting the humanchromosome 21 transcription map
Authors: Reymond, A Friedli, M Henrichsen, CN Chapot, F Deutsch, S Ucla, C Rossier, C Lyle, R Guipponi, M Antonarakis, SE
Citation: A. Reymond et al., From PREDs and open reading frames to cDNA isolation: Revisiting the humanchromosome 21 transcription map, GENOMICS, 78(1-2), 2001, pp. 46-54
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 (vol 44, pg 309, 1997)
Authors: Paoloni-Giacobino, A Chen, HM Peitsch, MC Rossier, C Antonarakis, SE
Citation: A. Paoloni-giacobino et al., Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 (vol 44, pg 309, 1997), GENOMICS, 77(1-2), 2001, pp. 114-114
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
Frequency of replication/transcription errors in (A)/(T) runs of human genes
Authors: Paoloni-Giacobino, A Rossier, C Papasavvas, MP Antonarakis, SE
Citation: A. Paoloni-giacobino et al., Frequency of replication/transcription errors in (A)/(T) runs of human genes, HUM GENET, 109(1), 2001, pp. 40-47
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
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
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
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)
Authors: Maiti, AK Bartoloni, L Mitchison, HM Meeks, M Chung, E Spiden, S Gehrig, C Rossier, C DeLozier-Blanchet, CD Blouin, JL Gardiner, RM Antonarakis, SE
Citation: Ak. Maiti et al., No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD), CYTOG C GEN, 90(1-2), 2000, pp. 119-122
Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia
Authors: Savioz, A Kovari, E Anastasiu, R Rossier, C Saini, K Bouras, C Leuba, G
Citation: A. Savioz et al., Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia, EXP NEUROL, 161(1), 2000, pp. 330-335
Mutations in the fibrinogen A alpha gene account for the majority of casesof congenital afibrinogenemia
Authors: Neerman-Arbez, M de Moerloose, P Bridel, C Honsberger, A Schonborner, A Rossier, C Peerlinck, K Claeyssens, S Di Michele, D d'Oiron, R Dreyfus, M Laubriat-Bianchin, M Dieval, J Antonarakis, SE Morris, MA
Citation: M. Neerman-arbez et al., Mutations in the fibrinogen A alpha gene account for the majority of casesof congenital afibrinogenemia, BLOOD, 96(1), 2000, pp. 149-152
No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a Swiss early-onset Alzheimer's disease family with adominant mode of inheritance
Authors: Savioz, A Leuba, G Forsell, C Lilius, L Rossier, C Saini, K Bouras, C Lannfelt, L
Citation: A. Savioz et al., No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a Swiss early-onset Alzheimer's disease family with adominant mode of inheritance, DEMENT G C, 10(6), 1999, pp. 431-436
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
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
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V factor VIII deficiency
Authors: Neerman-Arbez, M Johnson, KM Morris, MA McVey, JH Peyvandi, F Nichols, WC Ginsburg, D Rossier, C Antonarakis, SE Tuddenham, EGD
Citation: M. Neerman-arbez et al., Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V factor VIII deficiency, BLOOD, 93(7), 1999, pp. 2253-2260
Isolation and characterization of the mouse Aire gene
Authors: Mittaz, L Rossier, C Heino, M Peterson, P Krohn, KJE Gos, A Morris, MA Kudoh, J Shimizu, N Antonarakis, SE Scott, HS
Citation: L. Mittaz et al., Isolation and characterization of the mouse Aire gene, BIOC BIOP R, 255(2), 1999, pp. 483-490
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
Authors: Radhakrishna, U Bornholdt, D Scott, HS Patel, UC Rossier, C Engel, H Bottani, A Chandal, D Blouin, JL Solanki, JV Grzeschik, KH Antonarakis, SE
Citation: U. Radhakrishna et al., The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations, AM J HU GEN, 65(3), 1999, pp. 645-655
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
Authors: Guipponi, M Scott, HS Kudoh, J Kawasaki, K Shibuya, K Shintani, A Asakawa, S Chen, HM Lalioti, MD Rossier, C Minoshima, S Shimizu, N Antonarakis, SE
Citation: M. Guipponi et al., 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, HUM GENET, 103(4), 1998, pp. 386-392
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity
Authors: Mehenni, H Gehrig, C Nezu, J Oku, A Shimane, M Rossier, C Guex, N Blouin, JL Scott, HS Antonarakis, SE
Citation: H. Mehenni et al., Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity, AM J HU GEN, 63(6), 1998, pp. 1641-1650
Risultati: 1-24 |