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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos 2009
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DNAI1 mutations explain only 2% of primary ciliary dykinesia Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis 2008
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome Mehenni, Hamid; Resta, Nicoletta; Guanti, Ginevra; Mota-Vieira, Louisa; ... Picard, Didier 2007
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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos 2003
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos 2002
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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Physicochemical mechanisms of trace metal bioaccumulation by microorganisms Wilkinson, Kevin J; Slaveykova, Vera; Hassler, Christel; Rossier, Colette 2002
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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos 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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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele 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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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos 2001
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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos 2001
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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