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 TitleAuthors / EditorsDate
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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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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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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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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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The evolution of personality in patients with mild cognitive impairment Donati, A; Studer, J; Petrillo, S; Pocnet, C; ... von Gunten, A 2013
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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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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels Tin, Adrienne; Marten, Jonathan; Halperin Kuhns, Victoria L.; Li, Yong; ... Köttgen, Anna 2019
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Single-cell transcriptomes reveal characteristic features of human pancreatic islet cell types Li, Jin; Klughammer, Johanna; Farlik, Matthias; Penz, Thomas; ... Kubicek, Stefan 2016
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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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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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Quantitative variability of 342 plasma proteins in a human twin population Liu, Yansheng; Buil Demur, Alfonso Alberto; Collins, Ben C; Gillet, Ludovic C J; ... Aebersold, Ruedi 2015
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Protein coding potential of retroviruses and other transposable elements in vertebrate genomes Zdobnov, Evgeny; Campillos, Mónica; Harrington, Eoghan D; Torrents, David; Bork, Peer 2005
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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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Nuclear DNA polymorphism in a Mandenka population from Senegal: comparison with eight other human populations Poloni, Estella S.; Excoffier, Laurent Georges Louis; Mountain, J.L.; Langaney, André; Cavalli-Sforza, LL. 1995
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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos 1999
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations Belledi, M.; Poloni, Estella S.; Casalotti, R.; Conterio, F.; ... Excoffier, Laurent Georges Louis 2000
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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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Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. 1999
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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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