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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain 2009
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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; ... Brusco, Alfredo 2015
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A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos 2012
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An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss Guipponi, Michel; Toh, Min-Yen; Tan, Justin; Park, Daeho; ... Scott, Hamish Steele 2008
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Association of the connexin36 gene with juvenile myoclonic epilepsy Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo 2004
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos E 2017
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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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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Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences Robyr, Daniel; Friedli, Marc; Gehrig, Corinne; Arcangeli, Mélanie; ... Antonarakis, Stylianos 2011
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv 2018
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Copy number variants and therapeutic response to antidepressant medication in major depressive disorder Tansey, K E; Rucker, J J H; Kavanagh, D H; Guipponi, Michel; ... Uher, R 2014
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos 2015
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Domains of genome-wide gene expression dysregulation in Down's syndrome Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos 2014
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Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP Hussain, N. K.; Jenna, S.; Glogauer, M.; Quinn, C. C.; ... McPherson, P. S. 2001
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos 2016
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Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma Nikolaev, Sergey Igorievich; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; ... Antonarakis, Stylianos 2012
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Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes Guipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos 2014
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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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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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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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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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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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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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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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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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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 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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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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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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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 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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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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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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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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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 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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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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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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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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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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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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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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Next generation diagnostics on cardiomyopathy Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv 2014
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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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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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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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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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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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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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