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 TitleAuthors / EditorsDate
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors van de Bunt, Martijn; Manning Fox, Jocelyn E; Dai, Xiaoqing; Barrett, Amy; ... Gloyn, Anna L 2015
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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Assessment of transcript reconstruction methods for RNA-seq Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos 2013
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Haplotype diversity generated by ancient recombination-like events in the MHC of Indian rhesus macaques Doxiadis, Gaby G M; de Groot, Nanine; Otting, Nel; de Vos-Rouweler, Annemiek J M; ... Bontrop, Ronald E 2013
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis 2011
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison 2011
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Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite 2009
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Sequence of a novel HLA-A2 allele in a haematopoietic stem cell donor of the international registry Kervaire, B.; Schmidt, A. H.; Villard, Jean; Tiercy, Jean-Marie 2009
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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To aggregate or not to aggregate Neerman Arbez, Marguerite 2007
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Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre 2007
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
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Gene finding in the chicken genome Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. 2005
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Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion Vu, Dung; De Moerloose, Philippe; Batorova, A.; Lazur, J.; ... Neerman Arbez, Marguerite 2005
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo 2005
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Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain De Moerloose, Philippe; Germanos-Haddad, Myrna; Boehlen, Françoise; Neerman Arbez, Marguerite 2004
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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe 2004
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Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. 2003
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Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster Zdobnov, Evgeny; von Mering, Christian; Letunic, Ivica; Torrents, David; ... Bork, Peer 2002
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Role of two dileucine-like motifs in insulin receptor anchoring to microvilli Shackleton, Sue; Hamer, Isabelle; Foti, Michelangelo; Zumwald, Nicole; ... Carpentier, Jean-Louis 2002
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc 2000
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Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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PECAM-1/CD31 trans-homophilic binding at the intercellular junctions is independent of its cytoplasmic domain; evidence for heterophilic interaction with integrin alphavbeta3 in Cis Wong, C. W.; Wiedle, Guido; Ballestrem, Christoph; Wehrle-Haller, Bernhard; ... Imhof, Beat 2000
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion den Dunnen, J. T.; Antonarakis, Stylianos 2000
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C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos 2000
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Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos 2000
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Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele 2000
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Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Gene structure and chromosomal localization of the human P2X7 receptor Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; ... Antonarakis, Stylianos 1998
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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K 1998
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Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. 1998
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Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon Guipponi, Michel; Scott, Hamish Steele; Chen, H.; Schebesta, A.; ... Antonarakis, Stylianos 1998
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Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2 Guipponi, Michel; Scott, Hamish Steele; Hattori, M.; Ishii, K.; ... Antonarakis, Stylianos 1998
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly Vargas, F. R.; Roessler, E.; Gaudenz, K.; Belloni, E.; ... Muenke, M. 1998
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
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Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 Scott, Hamish Steele; Chen, H.; Rossier, Colette; Lalioti, M. D.; Antonarakis, Stylianos 1997
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Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos 1997
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Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome Giacobino, Ariane; Chen, H.; Antonarakis, Stylianos 1997
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Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 Giacobino, Ariane; Chen, Haiming; Peitsch, M. C.; Rossier, Colette; Antonarakis, Stylianos 1997
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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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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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