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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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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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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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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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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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Schizophrenia susceptibility and chromosome 6p24-22 Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. 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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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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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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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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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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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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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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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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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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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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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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