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Formation of new chromatin domains determines pathogenicity of genomic duplications Franke, Martin; Ibrahim, Daniel M; Andrey, Guillaume; Schwarzer, Wibke; ... Mundlos, Stefan 2016
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Genetic implication of a novel thiamine transporter in human hypertension International Consortium for Blood Pressure Genome-Wide Association Studies 2014
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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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Landscape of transcription in human cells Djebali, Sarah; Davis, Carrie A 2012
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Specific transgenerational imprinting effects of the endocrine disruptor methoxychlor on male gametes Stouder, Christelle; Giacobino, Ariane 2011
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Standardization of DNA isolation from low cell numbers for chimerism analysis by PCR of short tandem repeats van der Burg, M; Kreyenberg, H; Willasch, A; Barendregt, B H; ... van Dongen, J J M 2011
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Redescription of Testudotaenia testudo (Magath, 1924) (Eucestoda: Proteocephalidea), a parasite of Apalone spinifera (Le Sueur) (Reptilia: Trionychidae) and Amia calva L. (Pisces: Amiidae) in North America and erection of the Testudotaeniinae n. subfam de Chambrier, Alain; Coquille, Sandrine Claire; Mariaux, Jean; Tkach, Vasyl 2009
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Epigenetic features of human mesenchymal stem cells determine their permissiveness for induction of relevant transcriptional changes by SYT-SSX1 Cironi, Luisa; Provero, Paolo; Riggi, Nicola; Janiszewska, Michalina; ... Stamenkovic, Ivan 2009
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Initiation of human myoblast differentiation via dephosphorylation of Kir2.1 K+ channels at tyrosine 242 Hinard, Valérie; Belin, Dominique; Konig, Stéphane; Bader, Charles; Bernheim, Laurent 2008
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DNA typing by microbead arrays and PCR-SSP: apparent false-negative or -positive hybridization or amplification signals disclose new HLA-B and -DRB1 alleles Rahal, M.; Kervaire, B.; Villard, Jean; Tiercy, Jean-Marie 2008
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Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice Herbach, Nadja; Rathkolb, Birgit; Kemter, Elisabeth; Pichl, Lisa; ... Wanke, Ruediger 2007
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The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification Bonnafe, E.; Touka, M.; Ait-Lounis, Aouatef; Baas, Dominique; ... Reith, Walter 2004
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Mutation nomenclature den Dunnen, J. T.; Antonarakis, Stylianos 2003
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Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1 Schwitzgebel Luscher, Valérie; Mamin, Aline; Brun, Thierry; Ritz, Beate Andréa; ... Philippe, Jacques 2003
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Frequency of replication/transcription errors in (A)/(T) runs of human genes Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos 2001
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Disease-causing mutations in the human genome Antonarakis, Stylianos; Krawczak, M.; Cooper, D. N. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Inducible and irreversible control of gene expression using a single transgene Fuhrmann-Benzakein, Edya; Garcia, Irène; Pepper, Michael Sean; Vassalli, Jean-Dominique; Herrera, Pedro Luis 2000
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Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study Quintana-Murci, L.; Semino, O.; Poloni, Estella S.; Liu, A.; ... Santachiara-Benerecetti, A S. 1999
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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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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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A two-step recognition of signal sequences determines the translocation efficiency of proteins Belin, Dominique; Bost, S.; Vassalli, Jean-Dominique; Strub, K. 1996
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Molecular genetics of coagulation factor VIII gene and hemophilia A Antonarakis, Stylianos 1995
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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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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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The use of riboprobes for the analysis of gene expression Belin, Dominique 1994
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Analysis of TAP2 and HLA-DP gene polymorphism in psoriasis Fakler, J. W.; Schmitt-Egenolf, M.; Vejbaesya, S.; Boehncke, Wolf-Henning; ... Eiermann, T. H. 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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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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Interleukin-1-inducible genes in endothelial cells. Cloning of a new gene related to C-reactive protein and serum amyloid P component Breviario, Ferruccio; d'Aniello, Elisabetta M; Golay, Josée; Peri, Guiseppe; ... Introna, Martino 1992
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Intracompartmental sorting of essential myosin light chains: molecular dissection and in vivo monitoring by epitope tagging Soldati, Thierry; Perriard, J C 1991
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Alternative ribosomal initiation gives rise to chicken brain-type creatine kinase isoproteins with heterogeneous amino termini Soldati, Thierry; Schäfer, B W; Perriard, J C 1990
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The segment-specific gene Krox-20 encodes a transcription factor with binding sites in the promoter region of the Hox-1.4 gene Chavrier, Philippe; Vesque, Christine; Galliot, Brigitte; Vigneron, Marc; ... Charnay, Patrick 1990
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Dependence of position-effect variegation in Drosophila on dose of a gene encoding an unusual zinc-finger protein Reuter, Gunter; Giarre Gonczy, Marianna Francesca P.; Farah, Joséph; Gausz, Janos; ... Spierer, Pierre 1990
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A member of a new VH gene family encodes antibromelinized mouse red blood cell autoantibodies Reininger, Luc; Kaushik, A.; Izui, Shozo; Jaton, J. C. 1988
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cDNA cloning of the developmentally regulated lamin LIII of Xenopus laevis Stick, Reimer 1988
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Chromosomal assignments of genes for tissue plasminogen activator and urokinase in mouse Rajput, B.; Marshall, A.; Killary, A. M.; Lalley, P. A.; ... Strickland, S. 1987
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Genes and loops in 320,000 base-pairs of the Drosophila melanogaster chromosome Mirkovitch, Jovan; Spierer, Pierre; Laemmli, Ulrich Karl 1986
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Transcripts, genes and bands in 315,000 base-pairs of Drosophila DNA Hall, Lucinda M. C.; Mason, Philip J.; Spierer, Pierre 1983