| Title | Authors / Editors | Date |
unige:9127 |
Human chromosome 21: genome mapping and exploration, circa 1993 |
Antonarakis, Stylianos |
1993 |
unige:9164 |
Report of the Fourth International Workshop on Human Chromosome 21 |
Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. |
1993 |
unige:8840 |
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A |
Lakich, D.; Kazazian, H. H.; Antonarakis, Stylianos; Gitschier, J. |
1993 |
unige:8644 |
Normal phenotype with paternal uniparental isodisomy for chromosome 21 |
Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos |
1993 |
unige:9205 |
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 |
unige:9247 |
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 |
unige:9257 |
Dinucleotide repeat polymorphism within ERCC5 gene |
Samec, S.; Clarkson, S. G.; Blaschak, J.; Chakravarti, A.; ... Antonarakis, Stylianos |
1994 |
unige:9154 |
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 |
unige:9132 |
Discussion on mutation nomenclature |
Cotton, R. G. H.; Kazazian, H. H.; Antonarakis, Stylianos; McKusick, V. A. |
1994 |
unige:9144 |
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 |
unige:8597 |
Genome linkage scanning: systematic or intelligent? |
Antonarakis, Stylianos |
1994 |
unige:8950 |
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 |
unige:9128 |
Molecular genetics of coagulation factor VIII gene and hemophilia A |
Antonarakis, Stylianos |
1995 |
unige:9130 |
Molecular etiology of factor VIII deficiency in hemophilia A |
Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw |
1995 |
unige:9216 |
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 |
unige:9217 |
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 |
unige:9262 |
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells |
Talbot, C. C.; Avramopoulos, D.; Gerken, S.; Chakravarti, A.; ... Antonarakis, Stylianos |
1995 |
unige:9264 |
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 |
unige:9213 |
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 |
unige:9251 |
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 |
unige:9131 |
Molecular etiology of factor VIII deficiency in hemophilia A |
Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. |
1995 |
unige:8862 |
Schizophrenia and chromosomal deletions within 22q11.2 |
Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. |
1995 |
unige:8606 |
Schizophrenia susceptibility and chromosome 6p24-22 |
Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. |
1995 |
unige:8614 |
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study |
Antonarakis, Stylianos |
1995 |
unige:8641 |
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 |
unige:8645 |
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 |
unige:8672 |
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1 |
Chen, H.; Antonarakis, Stylianos |
1995 |
unige:8675 |
Single-minded and Down syndrome? |
Chen, H.; Chrast, R.; Rossier, Colette; Gos, A.; ... Minoshima, S. |
1995 |
unige:8678 |
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 |
unige:8684 |
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 |
Chrast, R.; Chen, H.; Morris, Michael Andréw; Antonarakis, Stylianos |
1995 |
unige:8919 |
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 |
unige:9129 |
Mapping by sequence homology |
Antonarakis, Stylianos |
1996 |
unige:9142 |
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 |
unige:9145 |
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 |
unige:9176 |
Early-onset dementias: clinical, neuropathological and genetic characteristics |
Giannakopoulos, Panteleimon; Hof, Patrick Raymond; Savioz, Armand; Guimon, José; ... Bouras, Constantin |
1996 |
unige:9207 |
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 |
unige:9248 |
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 |
unige:8822 |
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 |
unige:8842 |
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 |
unige:8843 |
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 |
unige:8598 |
Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis |
Antonarakis, Stylianos |
1996 |
unige:8648 |
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 |
unige:8674 |
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 |
unige:8676 |
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 |
unige:8677 |
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter |
Chen, H.; Gos, A.; Morris, Michael Andréw; Antonarakis, Stylianos |
1996 |
unige:8679 |
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 |
unige:8680 |
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 |
unige:8756 |
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 |
unige:9032 |
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 |
unige:9084 |
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 |