Archive ouverte UNIGE

Français

	Title	Authors / Editors	Date
unige:9166	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
unige:8879	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
unige:1798	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
unige:1068	DNAI1 mutations explain only 2% of primary ciliary dykinesia	Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis	2008
unige:4592	Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome	Mehenni, Hamid; Resta, Nicoletta; Guanti, Ginevra; Mota-Vieira, Louisa; ... Picard, Didier	2007
unige:9197	GENCODE: producing a reference annotation for ENCODE	Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic	2006
unige:8720	Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos	2003
unige:9092	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
unige:8776	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
unige:8900	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
unige:8988	Nineteen additional unpredicted transcripts from human chromosome 21	Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos	2002
unige:8626	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
unige:17964	Physicochemical mechanisms of trace metal bioaccumulation by microorganisms	Wilkinson, Kevin J; Slaveykova, Vera; Hassler, Christel; Rossier, Colette	2002
unige:9029	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
unige:9095	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
unige:8775	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
unige:8888	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
unige:8955	Frequency of replication/transcription errors in (A)/(T) runs of human genes	Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos	2001
unige:8989	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
unige:8625	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

View all records: 84513

Back to top About Swiss Copyright

Validator | Admin