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 TitleAuthors / EditorsDate
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Mendelian disorders and multifactorial traits: the big divide or one for all? Antonarakis, Stylianos; Chakravarti, Aravinda; Cohen, J. C.; Hardy, John 2010
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Mendelian disorders deserve more attention Antonarakis, Stylianos; Beckmann, J. S. 2006
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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Sharp, Andrew James; Migliavacca, Eugenia; Dupre, Yann; Stathaki, Elisavet; ... Antonarakis, Stylianos 2010
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Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome Chrast, R.; Scott, Hamish Steele; Madani, Rime; Huber, L.; ... Antonarakis, Stylianos 2000
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Mind the GAP, Rho, Rab and GDI Antonarakis, Stylianos; Van Aelst, L. 1998
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A 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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Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. 1999
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes Neerman Arbez, Marguerite; De Moerloose, Philippe; Honsberger, A.; Parlier, G.; ... Morris, Michael Andréw 2001
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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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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Molecular genetics of coagulation factor VIII gene and haemophilia A Antonarakis, Stylianos 1998
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Molecular genetics of coagulation factor VIII gene and hemophilia A Antonarakis, Stylianos 1995
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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MOOCs: la fin des facultés de médecine conventionnelles ? Antonarakis, Stylianos 2014
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Mouse models for Down syndrome-associated developmental cognitive disabilities Liu, Chunhong; Belichenko, Pavel V; Zhang, Li; Fu, Dawei; ... Yu, Y Eugene 2011
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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III Levinson, D. F.; Holmans, P.; Straub, R. E.; Owen, M. J.; ... Mallet, J. 2000
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 2014
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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Mutation in GLI3 in postaxial polydactyly type A Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos 1997
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Mutation nomenclature den Dunnen, J. T.; Antonarakis, Stylianos 2003
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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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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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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 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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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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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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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos 2007
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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma Valsesia, Armand; Rimoldi, Donata; Martinet, Danielle; Ibberson, Mark; ... Stevenson, Brian J 2011
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New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism Kapranov, Philipp; Ozsolak, Fatih; Kim, Sang Woo; Foissac, Sylvain; ... Milos, Patrice M. 2010
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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 association between DUP25 and anxiety disorders Henrichsen, C. N.; Delorme, Richard; Boucherie, Maria; Marelli, Dominique; ... Dahoun, Sophie 2004
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome Glaser, Bronwyn; Debbané, Martin; Hinard, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2006
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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos 1999
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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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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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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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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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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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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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Numerous potentially functional but non-genic conserved sequences on human chromosome 21 Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos 2002
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OMIM passes the 1,000-disease-gene mark Antonarakis, Stylianos; McKusick, V. A. 2000
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Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann 2015
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Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Eliez, Stéphan; Antonarakis, Stylianos; Morris, Michael Andréw; Dahoun, S. P.; Reiss, A. L. 2001
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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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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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