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 TitleAuthors / EditorsDate
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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
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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
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Molecular genetics of coagulation factor VIII gene and haemophilia A Antonarakis, Stylianos 1998
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10 years of Genomics, chromosome 21, and Down syndrome Antonarakis, Stylianos 1998
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Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group Antonarakis, Stylianos 1998
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Mind the GAP, Rho, Rab and GDI Antonarakis, Stylianos; Van Aelst, L. 1998
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Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. 1998
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Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Guipponi, Michel; Rossier, Colette; ... Antonarakis, Stylianos 1998
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Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. 1998
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Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon Guipponi, Michel; Scott, Hamish Steele; Chen, H.; Schebesta, A.; ... Antonarakis, Stylianos 1998
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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
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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 and sequence Guipponi, Michel; Scott, Hamish Steele; Kudoh, J.; Kawasaki, K.; ... Antonarakis, Stylianos 1998
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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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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
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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos 1998
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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 Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos 1998
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Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. 1998
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly Vargas, F. R.; Roessler, E.; Gaudenz, K.; Belloni, E.; ... Muenke, M. 1998
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APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
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The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 Chen, H.; Antonarakis, Stylianos 1997
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Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1 Knoepfler, P. S.; Calvo, K. R.; Chen, H.; Antonarakis, Stylianos; Kamps, M. P. 1997
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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
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos 1997
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region Bartsch, O.; Hinkel, G. K.; Petersen, M. B.; Konig, U.; ... Antonarakis, Stylianos 1997
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Fortuitous detection of uniparental isodisomy of chromosome 6 Bittencourt, M. C.; Morris, Michael Andréw; Chabod, J.; Gos, A.; ... Tiberghien, P. 1997
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Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 Chen, H.; Antonarakis, Stylianos 1997
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Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
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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
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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
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Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. 1997
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Mutation in GLI3 in postaxial polydactyly type A Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos 1997
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A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years Savioz, Armand; Blouin, Jean-Louis; Guidi, S.; Antonarakis, Stylianos; Bouras, Constantin 1997
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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 Scott, Hamish Steele; Chen, H.; Rossier, Colette; Lalioti, M. D.; Antonarakis, Stylianos 1997
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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard 1997
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Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee White, J. A.; McAlpine, P. J.; Antonarakis, Stylianos; Cann, H.; ... Povey, S. 1997
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Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos 1997
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Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 Mittaz, L.; Antonarakis, Stylianos; Higuchi, M.; Scott, Hamish Steele 1997
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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
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
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Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome Giacobino, Ariane; Chen, H.; Antonarakis, Stylianos 1997
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Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 Giacobino, Ariane; Chen, Haiming; Peitsch, M. C.; Rossier, Colette; Antonarakis, Stylianos 1997
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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Patel, U. C.; ... Antonarakis, Stylianos 1997
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Mapping by sequence homology Antonarakis, Stylianos 1996
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The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene Berry, G. T.; Mallee, J. J.; Blouin, Jean-Louis; Antonarakis, Stylianos 1996
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Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Antonarakis, Stylianos 1996
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