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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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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm De Iaco, Alberto; Santoni, Federico; Vannier, Anne; Guipponi, Michel; ... Luban, Jeremy 2013
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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing Fasquelle, Lydie; Scott, Hamish S; Lenoir, Marc; Wang, Jing; ... Delprat, Benjamin 2011
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice Hanifa, Syazana; Scott, Hamish Steele; Crewther, Pauline; Guipponi, Michel; Tan, Justin 2010
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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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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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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development Menzel, Olivier; Vellai, Tibor; Takacs-Vellai, Krisztina; Reymond, Alexandre; ... Guipponi, Michel 2004
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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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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims Perroud, Nader Ali; Neidhart, Elizabeth; Petit, Brice; Vessaz, Monique; ... Guipponi, Michel 2010
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology Guipponi, Michel; Li, Qiao-Xin; Hyde, Lavinia; Beissbarth, Tim; ... Scott, Hamish Steele 2010
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Role of Type II Transmembrane Serine Proteases in Hearing Loss Guipponi, Michel 2011
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Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling Pruitt, W. M.; Karnoub, A. E.; Rakauskas, A. C.; Guipponi, Michel; ... Der, C. J. 2003
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa 2015
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil 2013
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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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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No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos 2017
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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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Next generation diagnostics on cardiomyopathy Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv 2014
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New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation Fabbri, C; Tansey, K E; Perlis, R H; Hauser, J; ... Lewis, C M 2017
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M. 2013
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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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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis 2014
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Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge 2014
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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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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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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Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre 2003
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Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence Guipponi, Michel; Scott, Hamish Steele; Kudoh, J.; Kawasaki, K.; ... Antonarakis, Stylianos 1998
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos 2015
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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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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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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich 2016
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Mefford, Heather C.; Muhle, Hiltrud; Ostertag, Philipp; von Spiczak, S.; ... Eichler, E. E. 2010
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Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis Tansey, Katherine E; Guipponi, Michel; Perroud, Nader Ali; Bondolfi, Guido; ... Uher, Rudolf 2012
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Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family Layouni, Samia; Salzmann, Annick; Guipponi, Michel; Mouthon, Dominique; ... Malafosse, Alain 2010
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Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior Guipponi, Michel; Deutsch, Samuel; Kohler, Karine; Perroud, Nader; ... Malafosse, Alain 2009
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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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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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Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations Nikolaev, Sergey Igorievich; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; ... Antonarakis, Stylianos 2014
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Familial epilepsy in Algeria: Clinical features and inheritance profiles Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos 2015
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos 2014
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André 2014
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