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 TitleAuthors / EditorsDate
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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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Early-onset dementias: clinical, neuropathological and genetic characteristics Giannakopoulos, Panteleimon; Hof, Patrick Raymond; Savioz, Armand; Guimon, José; ... Bouras, Constantin 1996
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Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Jeffery, J. A.; ... Pulver, A. E. 1996
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The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes Pulver, A. E.; Wolyniec, P. S.; Housman, D.; Kazazian, H. H.; ... Kempf, L. 1996
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Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. 1996
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Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 Lalioti, M. D.; Chen, H.; Rossier, Colette; Shafaatian, R.; ... Antonarakis, Stylianos 1996
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The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3 Lalioti, M. D.; Gos, A.; Green, M. R.; Rossier, Colette; ... Antonarakis, Stylianos 1996
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Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis Antonarakis, Stylianos 1996
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Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Chen, H.; Gos, A.; ... Antonarakis, Stylianos 1996
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Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 Chen, H.; Bouras, Constantin; Antonarakis, Stylianos 1996
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Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping Chen, H.; Chrast, R.; Rossier, Colette; Morris, Michael Andréw; ... Antonarakis, Stylianos 1996
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Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter Chen, H.; Gos, A.; Morris, Michael Andréw; Antonarakis, Stylianos 1996
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Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2 Chen, H.; Rossier, Colette; Antonarakis, Stylianos 1996
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
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A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22) Gill, M.; Vallada, H.; Collier, D.; Sham, P.; ... Read, C. M. 1996
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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
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The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS Wacey, A. I.; Kemball-Cook, G.; Kazazian, H. H.; Antonarakis, Stylianos; ... Tuddenham, E. G. 1996
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The human lanosterol synthase gene maps to chromosome 21q22.3 Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, Stylianos 1996
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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996
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Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre 1996
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An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos 1996
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Molecular genetics of coagulation factor VIII gene and hemophilia A Antonarakis, Stylianos 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw 1995
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Localization of 102 exons to a 2.5 Mb region involved in Down syndrome Lucente, D.; Chen, H. M.; Shea, D.; Samec, S. N.; ... McCormick, M. K. 1995
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Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain Margolis, R. L.; Breschel, T. S.; Li, S. H.; Kidwai, A. S.; ... Ross, C. A. 1995
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The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Talbot, C. C.; Avramopoulos, D.; Gerken, S.; Chakravarti, A.; ... Antonarakis, Stylianos 1995
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Characterization and chromosomal localization of a human P2X receptor from the urinary bladder Valera, S.; Talabot, F.; Evans, R. J.; Gos, A.; ... Buell, G. N. 1995
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Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3 Lasseter, V. K.; Pulver, A. E.; Wolyniec, P. S.; Nestadt, G.; ... Kasch, L. 1995
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Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia Rogan, P. K.; Close, P.; Blouin, Jean-Louis; Seip, J. R.; ... Antonarakis, Stylianos 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Schizophrenia and chromosomal deletions within 22q11.2 Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. 1995
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Schizophrenia susceptibility and chromosome 6p24-22 Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. 1995
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Factor VIII gene inversions in severe hemophilia A: results of an international consortium study Antonarakis, Stylianos 1995
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Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A Bi, L.; Lawler, A. M.; Antonarakis, Stylianos; High, K. A.; ... Kazazian, H. H. 1995
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A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos 1995
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Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1 Chen, H.; Antonarakis, Stylianos 1995
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Single-minded and Down syndrome? Chen, H.; Chrast, R.; Rossier, Colette; Gos, A.; ... Minoshima, S. 1995
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Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos 1995
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Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 Chrast, R.; Chen, H.; Morris, Michael Andréw; Antonarakis, Stylianos 1995
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Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe Nakashima, H.; Yi, M.; Ichikawa, N.; LeBlond, G. F.; ... Ts'o, P. O. 1995
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Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene Hutter, P.; Antonarakis, Stylianos; Delozier-Blanchet, C. D.; Morris, Michael Andréw 1994
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Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives Pulver, A. E.; Nestadt, G.; Goldberg, R.; Shprintzen, R. J.; ... Housman, D. 1994
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Dinucleotide repeat polymorphism within ERCC5 gene Samec, S.; Clarkson, S. G.; Blaschak, J.; Chakravarti, A.; ... Antonarakis, Stylianos 1994
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Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes Chen, H.; Lowther, W.; Avramopoulos, D.; Antonarakis, Stylianos 1994
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Discussion on mutation nomenclature Cotton, R. G. H.; Kazazian, H. H.; Antonarakis, Stylianos; McKusick, V. A. 1994
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Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically Blouin, Jean-Louis; Binkert, F.; Antonarakis, Stylianos 1994
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Genome linkage scanning: systematic or intelligent? Antonarakis, Stylianos 1994
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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis Pangalos, C.; Avramopoulos, D.; Blouin, Jean-Louis; Raoul, O.; ... Antonarakis, Stylianos 1994
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Human chromosome 21: genome mapping and exploration, circa 1993 Antonarakis, Stylianos 1993
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Report of the Fourth International Workshop on Human Chromosome 21 Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. 1993
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